Year |
Citation |
Score |
2020 |
Gibbs RA. The Human Genome Project changed everything. Nature Reviews. Genetics. PMID 32770171 DOI: 10.1038/S41576-020-0275-3 |
0.354 |
|
2020 |
Sabo A, Murdock D, Dugan S, Meng Q, Gingras MC, Hu J, Muzny D, Gibbs R. Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability. Molecular Genetics & Genomic Medicine. e1439. PMID 32767738 DOI: 10.1002/Mgg3.1439 |
0.304 |
|
2020 |
Yuan B, Wang L, Liu P, Shaw C, Dai H, Cooper L, Zhu W, Anderson SA, Meng L, Wang X, Wang Y, Xia F, Xiao R, Braxton A, Peacock S, ... ... Gibbs RA, et al. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32576985 DOI: 10.1038/S41436-020-0864-8 |
0.305 |
|
2020 |
Oeyen JP, Baa-Puyoulet P, Benoit JB, Beukeboom LW, Bornberg-Bauer E, Buttstedt A, Calevro F, Cash EI, Chao H, Charles H, Chen MM, Childers C, Cridge AG, Dearden P, Dinh H, ... ... Gibbs RA, et al. Sawfly genomes reveal evolutionary acquisitions that fostered the mega-radiation of parasitoid and eusocial Hymenoptera. Genome Biology and Evolution. PMID 32442304 DOI: 10.1093/Gbe/Evaa106 |
0.344 |
|
2020 |
Narita TB, Kawabe Y, Kin K, Gibbs RA, Kuspa A, Muzny DM, Richards S, Strassmann JE, Sucgang R, Worley KC, Schaap P. Loss of the polyketide synthase StlB results in stalk cell overproduction in Polysphondylium violaceum. Genome Biology and Evolution. PMID 32386295 DOI: 10.1093/Gbe/Evaa079 |
0.325 |
|
2020 |
Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru KC, Pehlivan D, Yuan B, Jimenez J, Sahin Y, Paine IS, Akdemir ZC, Rajamani S, Staples J, Dronzek J, ... ... Gibbs RA, et al. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. European Journal of Human Genetics : Ejhg. PMID 32376988 DOI: 10.1038/S41431-020-0632-X |
0.354 |
|
2020 |
Schloss JA, Gibbs RA, Makhijani VB, Marziali A. Cultivating DNA Sequencing Technology After the Human Genome Project. Annual Review of Genomics and Human Genetics. PMID 32283947 DOI: 10.1146/Annurev-Genom-111919-082433 |
0.326 |
|
2020 |
Thomas GWC, Dohmen E, Hughes DST, Murali SC, Poelchau M, Glastad K, Anstead CA, Ayoub NA, Batterham P, Bellair M, Binford GJ, Chao H, Chen YH, Childers C, Dinh H, ... ... Gibbs RA, et al. Gene content evolution in the arthropods. Genome Biology. 21: 15. PMID 31969194 DOI: 10.1186/S13059-019-1925-7 |
0.341 |
|
2020 |
Chen CA, Pal R, Yin J, Tao H, Amawi A, Sabo A, Bainbridge MN, Gibbs RA, Zoghbi HY, Schaaf CP. Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Human Molecular Genetics. PMID 31943016 DOI: 10.1093/Hmg/Ddz305 |
0.307 |
|
2020 |
Tosur M, Sabo A, Khayat MM, Jhangiani SN, Refaey AK, Muzny D, Gibbs RA, Balasubramanyam A, Redondo MJ. 1550-P: Whole-Exome Sequencing in Children with Suspected Maturity-Onset Diabetes of the Young (MODY) Diabetes. 69. DOI: 10.2337/Db20-1550-P |
0.305 |
|
2019 |
Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, ... ... Gibbs RA, et al. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain : a Journal of Neurology. PMID 31794024 DOI: 10.1093/Brain/Awz374 |
0.318 |
|
2019 |
Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, Deignan JL, Mao Y, Aker M, Posey JE, Jhangiani SN, Coban-Akdemir ZH, Boerwinkle E, Muzny D, Nelson AB, ... ... Gibbs R, et al. A Diagnostic Ceiling for Exome Sequencing in Cerebellar Ataxia and Related Neurological Disorders. Human Mutation. PMID 31692161 DOI: 10.1002/Humu.23946 |
0.357 |
|
2019 |
Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, Coban Akdemir ZH, Sedlazeck FJ, Ashley-Koch AE, Liu P, Muzny DM, Davis EE, ... ... Gibbs RA, et al. A Genocentric Approach to Discovery of Mendelian Disorders. American Journal of Human Genetics. PMID 31668702 DOI: 10.1016/J.Ajhg.2019.09.027 |
0.348 |
|
2019 |
Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, ... ... Gibbs RA, et al. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. American Journal of Human Genetics. PMID 31630790 DOI: 10.1016/J.Ajhg.2019.09.017 |
0.31 |
|
2019 |
Robyns T, Willems R, Van Cleemput J, Jhangiani S, Muzny D, Gibbs R, Lupski JR, Breckpot J, Devriendt K, Corveleyn A. Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in . Acta Cardiologica. 1-6. PMID 31583969 DOI: 10.1080/00015385.2019.1674490 |
0.377 |
|
2019 |
Chander V, Gibbs RA, Sedlazeck FJ. Evaluation of computational genotyping of structural variation for clinical diagnoses. Gigascience. 8. PMID 31494671 DOI: 10.1093/Gigascience/Giz110 |
0.31 |
|
2019 |
Feliciano P, Zhou X, Astrovskaya I, Turner TN, Wang T, Brueggeman L, Barnard R, Hsieh A, Snyder LG, Muzny DM, Sabo A, Gibbs RA, Eichler EE, O'Roak BJ, et al. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. Npj Genomic Medicine. 4: 19. PMID 31452935 DOI: 10.1038/S41525-019-0093-8 |
0.327 |
|
2019 |
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, ... ... Gibbs RA, et al. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. American Journal of Human Genetics. PMID 31256877 DOI: 10.1016/J.Ajhg.2019.06.001 |
0.345 |
|
2019 |
Floyd JS, Bloch KM, Brody JA, Maroteau C, Siddiqui MK, Gregory R, Carr DF, Molokhia M, Liu X, Bis JC, Ahmed A, Liu X, Hallberg P, Yue QY, Magnusson PKE, ... ... Gibbs RA, et al. Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing. Plos One. 14: e0218115. PMID 31242253 DOI: 10.1371/Journal.Pone.0218115 |
0.325 |
|
2019 |
Pehlivan D, Bayram Y, Gunes N, Coban Akdemir Z, Shukla A, Bierhals T, Tabakci B, Sahin Y, Gezdirici A, Fatih JM, Gulec EY, Yesil G, Punetha J, Ocak Z, Grochowski CM, ... ... Gibbs RA, et al. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. American Journal of Human Genetics. PMID 31230720 DOI: 10.1016/J.Ajhg.2019.05.015 |
0.368 |
|
2019 |
Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, ... ... Gibbs RA, et al. Reanalysis of Clinical Exome Sequencing Data. The New England Journal of Medicine. 380: 2478-2480. PMID 31216405 DOI: 10.1056/Nejmc1812033 |
0.31 |
|
2019 |
Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, ... ... Gibbs RA, et al. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Medicine. 11: 30. PMID 31101064 DOI: 10.1186/S13073-019-0639-5 |
0.333 |
|
2019 |
Jolly A, Bayram Y, Turan S, Aycan Z, Tos T, Abali ZY, Hacihamdioglu B, Coban Akdemir ZH, Hijazi H, Bas S, Atay Z, Guran T, Abali S, Bas F, Darendeliler F, ... ... Gibbs RA, et al. Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease. The Journal of Clinical Endocrinology and Metabolism. PMID 31042289 DOI: 10.1210/Jc.2019-00248 |
0.308 |
|
2019 |
Carvalho CMB, Coban-Akdemir Z, Hijazi H, Yuan B, Pendleton M, Harrington E, Beaulaurier J, Juul S, Turner DJ, Kanchi RS, Jhangiani SN, Muzny DM, Gibbs RA, Stankiewicz P, et al. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Medicine. 11: 25. PMID 31014393 DOI: 10.1186/S13073-019-0633-Y |
0.36 |
|
2019 |
Panfilio KA, Vargas Jentzsch IM, Benoit JB, Erezyilmaz D, Suzuki Y, Colella S, Robertson HM, Poelchau MF, Waterhouse RM, Ioannidis P, Weirauch MT, Hughes DST, Murali SC, Werren JH, Jacobs CGC, ... ... Gibbs RA, et al. Molecular evolutionary trends and feeding ecology diversification in the Hemiptera, anchored by the milkweed bug genome. Genome Biology. 20: 64. PMID 30935422 DOI: 10.1186/S13059-019-1660-0 |
0.344 |
|
2019 |
Chiang T, Liu X, Wu TJ, Hu J, Sedlazeck FJ, White S, Schaid D, Andrade M, Jarvik GP, Crosslin D, Stanaway I, Carrell DS, Connolly JJ, Hakonarson H, Groopman EE, ... ... Gibbs RA, et al. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30890783 DOI: 10.1038/S41436-019-0475-4 |
0.352 |
|
2019 |
Rogers J, Raveendran M, Harris RA, Mailund T, Leppälä K, Athanasiadis G, Schierup MH, Cheng J, Munch K, Walker JA, Konkel MK, Jordan V, Steely CJ, Beckstrom TO, Bergey C, ... ... Gibbs RA, et al. The comparative genomics and complex population history of baboons. Science Advances. 5: eaau6947. PMID 30854422 DOI: 10.1126/Sciadv.Aau6947 |
0.332 |
|
2019 |
Beck CR, Carvalho CMB, Akdemir ZC, Sedlazeck FJ, Song X, Meng Q, Hu J, Doddapaneni H, Chong Z, Chen ES, Thornton PC, Liu P, Yuan B, Withers M, Jhangiani SN, ... ... Gibbs RA, et al. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. PMID 30827684 DOI: 10.1016/J.Cell.2019.01.045 |
0.356 |
|
2019 |
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, ... ... Gibbs RA, et al. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Medicine. 11: 12. PMID 30819258 DOI: 10.1186/S13073-019-0623-0 |
0.309 |
|
2019 |
Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, ... ... Gibbs RA, et al. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. American Journal of Human Genetics. PMID 30773277 DOI: 10.1016/J.Ajhg.2019.01.007 |
0.333 |
|
2019 |
Berauer JP, Mezina AI, Okou DT, Sabo A, Muzny DM, Gibbs RA, Hegde MR, Chopra P, Cutler DJ, Perlmutter DH, Bull LN, Thompson RJ, Loomes KM, Spinner NB, Rajagopalan R, et al. Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome. Hepatology (Baltimore, Md.). PMID 30664273 DOI: 10.1002/Hep.30515 |
0.308 |
|
2019 |
Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, ... ... Gibbs RA, et al. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30655598 DOI: 10.1038/S41436-018-0408-7 |
0.399 |
|
2019 |
Petersen M, Armisén D, Gibbs RA, Hering L, Khila A, Mayer G, Richards S, Niehuis O, Misof B. Diversity and evolution of the transposable element repertoire in arthropods with particular reference to insects. Bmc Evolutionary Biology. 19: 11. PMID 30626321 DOI: 10.1186/S12862-018-1324-9 |
0.337 |
|
2019 |
Petty LE, Highland HM, Gamazon ER, Hu H, Karhade M, Chen HH, de Vries PS, Grove ML, Aguilar D, Bell GI, Huff CD, Hanis CL, Doddapaneni H, Munzy DM, Gibbs RA, et al. Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample. Human Molecular Genetics. PMID 30624610 DOI: 10.1093/Hmg/Ddy435 |
0.327 |
|
2019 |
Li AH, Hanchard NA, Azamian M, D'Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, Boone PM, Gambin T, Karaca E, Gu S, Yuan B, ... ... Gibbs RA, et al. Genetic architecture of laterality defects revealed by whole exome sequencing. European Journal of Human Genetics : Ejhg. PMID 30622330 DOI: 10.1038/S41431-018-0307-Z |
0.362 |
|
2019 |
Eckstein OS, Gulati N, Forbes L, Peckham-Gregory E, Ozuah NW, Poli MC, Vogel T, Mace EM, Orange JS, Caldwell J, Jolles S, Saettini F, Chong HJ, Stray-Pedersen A, Heslop HE, ... ... Gibbs R, et al. Genomic Characterization of a Pediatric Cohort with Non-Malignant Lymphoproliferative Disorders Blood. 134: 83-83. DOI: 10.1182/Blood-2019-131884 |
0.306 |
|
2018 |
Normand EA, Braxton A, Nassef S, Ward PA, Vetrini F, He W, Patel V, Qu C, Westerfield LE, Stover S, Dharmadhikari AV, Muzny DM, Gibbs RA, Dai H, Meng L, et al. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Medicine. 10: 74. PMID 30266093 DOI: 10.1186/S13073-018-0582-X |
0.301 |
|
2018 |
Punetha J, Mackay-Loder L, Harel T, Coban-Akdemir Z, Jhangiani SN, Gibbs RA, Lee I, Terespolsky D, Lupski JR, Posey JE. Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis. Molecular Genetics and Metabolism. PMID 30249361 DOI: 10.1016/J.Ymgme.2018.08.005 |
0.319 |
|
2018 |
Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, ... ... Gibbs RA, et al. Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Molecular Psychiatry. PMID 30108311 DOI: 10.1038/S41380-018-0112-7 |
0.35 |
|
2018 |
Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y, Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E, Wu N, Gibbs RA, Posey JE, et al. Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Human Genetics. PMID 30046887 DOI: 10.1007/S00439-018-1907-Y |
0.355 |
|
2018 |
Coban-Akdemir Z, White JJ, Song X, Jhangiani SN, Fatih JM, Gambin T, Bayram Y, Chinn IK, Karaca E, Punetha J, Poli C, Boerwinkle E, Shaw CA, Orange JS, ... Gibbs RA, et al. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. American Journal of Human Genetics. PMID 30032986 DOI: 10.1016/J.Ajhg.2018.06.009 |
0.347 |
|
2018 |
Karaca E, Posey JE, Coban Akdemir Z, Pehlivan D, Harel T, Jhangiani SN, Bayram Y, Song X, Bahrambeigi V, Yuregir OO, Bozdogan S, Yesil G, Isikay S, Muzny D, Gibbs RA, et al. Phenotypic expansion illuminates multilocus pathogenic variation. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29790871 DOI: 10.1038/Gim.2018.33 |
0.346 |
|
2018 |
Lindsey ARI, Kelkar YD, Wu X, Sun D, Martinson EO, Yan Z, Rugman-Jones PF, Hughes DST, Murali SC, Qu J, Dugan S, Lee SL, Chao H, Dinh H, Han Y, ... ... Gibbs RA, et al. Comparative genomics of the miniature wasp and pest control agent Trichogramma pretiosum. Bmc Biology. 16: 54. PMID 29776407 DOI: 10.1186/S12915-018-0520-9 |
0.304 |
|
2018 |
Wiszniewski W, Gawlinski P, Gambin T, Bekiesinska-Figatowska M, Obersztyn E, Antczak-Marach D, Akdemir ZHC, Harel T, Karaca E, Jurek M, Sobecka K, Nowakowska B, Kruk M, Terczynska I, Goszczanska-Ciuchta A, ... ... Gibbs RA, et al. Comprehensive genomic analysis of patients with disorders of cerebral cortical development. European Journal of Human Genetics : Ejhg. PMID 29706646 DOI: 10.1038/S41431-018-0137-Z |
0.352 |
|
2018 |
Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA. The phenotypic spectrum of Xia-Gibbs syndrome. American Journal of Medical Genetics. Part A. PMID 29696776 DOI: 10.1002/Ajmg.A.38699 |
0.325 |
|
2018 |
Poynton HC, Hasenbein S, Benoit JB, Sepulveda MS, Poelchau MF, Hughes DST, Murali SC, Chen S, Glastad KM, Goodisman MAD, Werren JH, Vineis JH, Bowen JL, Friedrich M, Jones J, ... ... Gibbs RA, et al. The Toxicogenome of Hyalella azteca: a model for sediment ecotoxicology and evolutionary toxicology. Environmental Science & Technology. PMID 29634279 DOI: 10.1021/Acs.Est.8B00837 |
0.349 |
|
2018 |
Chinn IK, Eckstein OS, Peckham-Gregory EC, Goldberg BR, Forbes LR, Nicholas SK, Mace EM, Vogel TP, Abhyankar HA, Diaz MI, Heslop HE, Krance RA, Martinez CA, Nguyen TC, Bashir DA, ... ... Gibbs RA, et al. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. PMID 29632024 DOI: 10.1182/Blood-2017-11-814244 |
0.363 |
|
2018 |
Jordan VK, Beck TF, Hernandez-Garcia A, Kundert PN, Kim BJ, Jhangiani SN, Gambin T, Starkovich M, Punetha J, Paine IS, Posey JE, Li AH, Muzny D, Hsu CW, Lashua AJ, ... ... Gibbs RA, et al. The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia. Human Molecular Genetics. PMID 29618029 DOI: 10.1093/Hmg/Ddy110 |
0.31 |
|
2018 |
Feofanova EV, Yu B, Metcalf GA, Liu X, Muzny D, Below JE, Wagenknecht LE, Gibbs RA, Morrison AC, Boerwinkle E. Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study. Genetics. PMID 29610217 DOI: 10.1534/Genetics.118.300751 |
0.323 |
|
2018 |
Naval-Sanchez M, Nguyen Q, McWilliam S, Porto-Neto LR, Tellam R, Vuocolo T, Reverter A, Perez-Enciso M, Brauning R, Clarke S, McCulloch A, Zamani W, Naderi S, Rezaei HR, Pompanon F, ... ... Gibbs RA, et al. Sheep genome functional annotation reveals proximal regulatory elements contributed to the evolution of modern breeds. Nature Communications. 9: 859. PMID 29491421 DOI: 10.1038/S41467-017-02809-1 |
0.375 |
|
2018 |
Dinckan N, Du R, Akdemir ZC, Bayram Y, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Guven Y, Aktoren O, Kayserili H, Boerwinkle E, Gibbs RA, Posey JE, Lupski JR, et al. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. American Journal of Medical Genetics. Part A. PMID 29436111 DOI: 10.1002/Ajmg.A.38625 |
0.353 |
|
2018 |
Harrison MC, Jongepier E, Robertson HM, Arning N, Bitard-Feildel T, Chao H, Childers CP, Dinh H, Doddapaneni H, Dugan S, Gowin J, Greiner C, Han Y, Hu H, Hughes DST, ... ... Gibbs RA, et al. Hemimetabolous genomes reveal molecular basis of termite eusociality. Nature Ecology & Evolution. PMID 29403074 DOI: 10.1038/S41559-017-0459-1 |
0.34 |
|
2018 |
Schoville SD, Chen YH, Andersson MN, Benoit JB, Bhandari A, Bowsher JH, Brevik K, Cappelle K, Chen MM, Childers AK, Childers C, Christiaens O, Clements J, Didion EM, Elpidina EN, ... ... Gibbs RA, et al. A model species for agricultural pest genomics: the genome of the Colorado potato beetle, Leptinotarsa decemlineata (Coleoptera: Chrysomelidae). Scientific Reports. 8: 1931. PMID 29386578 DOI: 10.1038/S41598-018-20154-1 |
0.344 |
|
2018 |
Palesch D, Bosinger SE, Tharp GK, Vanderford TH, Paiardini M, Chahroudi A, Johnson ZP, Kirchhoff F, Hahn BH, Norgren RB, Patel NB, Sodora DL, Dawoud RA, Stewart CB, Seepo SM, ... ... Gibbs RA, et al. Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host. Nature. 553: 77-81. PMID 29300007 DOI: 10.1038/Nature25140 |
0.347 |
|
2018 |
Lin F, Potter S, Ting M, Chandramohan R, Kakkar N, Wang T, Raesz-Martinez R, Scollon S, Bergstrom K, Lopez-Terrada D, Adesina A, Mohila C, Whitehead W, Ramamurthy U, Hilsenbeck S, ... ... Gibbs R, et al. TBIO-20. CLINICAL TUMOR WHOLE EXOME SEQUENCING FOR PEDIATRIC NEURO-ONCOLOGY PATIENTS – RESULTS FROM THE BAYLOR ADVANCING SEQUENCING IN CHILDHOOD CANCER CARE (BASIC3) CLINICAL SEQUENCING STUDY Neuro-Oncology. 20: i184-i184. DOI: 10.1093/Neuonc/Noy059.708 |
0.305 |
|
2017 |
Matz LM, Kamdar KY, Holder ME, Metcalf GA, Weissenberger GM, Meng Q, Vee V, Han Y, Muzny DM, Gibbs RA, Johnson CL, Revell PA, Petrosino JF. Challenges of Francisella classification exemplified by an atypical clinical isolate. Diagnostic Microbiology and Infectious Disease. PMID 29329757 DOI: 10.1016/J.Diagmicrobio.2017.11.023 |
0.335 |
|
2017 |
White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, ... ... Gibbs RA, et al. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. American Journal of Human Genetics. PMID 29276006 DOI: 10.1016/J.Ajhg.2017.10.002 |
0.346 |
|
2017 |
Larsen PA, Harris RA, Liu Y, Murali SC, Campbell CR, Brown AD, Sullivan BA, Shelton J, Brown SJ, Raveendran M, Dudchenko O, Machol I, Durand NC, Shamim MS, Aiden EL, ... ... Gibbs RA, et al. Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus). Bmc Biology. 15: 110. PMID 29145861 DOI: 10.1186/S12915-017-0439-6 |
0.336 |
|
2017 |
Li AH, Hanchard NA, Furthner D, Fernbach S, Azamian M, Nicosia A, Rosenfeld J, Muzny D, D'Alessandro LCA, Morris S, Jhangiani S, Parekh DR, Franklin WJ, Lewin M, Towbin JA, ... ... Gibbs RA, et al. Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome Medicine. 9: 95. PMID 29089047 DOI: 10.1186/S13073-017-0482-5 |
0.335 |
|
2017 |
Hampton OA, English AC, Wang M, Salerno WJ, Liu Y, Muzny DM, Han Y, Wheeler DA, Worley KC, Lupski JR, Gibbs RA. SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads. Bmc Genomics. 18: 691. PMID 28984202 DOI: 10.1186/S12864-017-4021-Y |
0.36 |
|
2017 |
Vogelaar IP, van der Post RS, van Krieken JHJ, Spruijt L, van Zelst-Stams WA, Kets CM, Lubinski J, Jakubowska A, Teodorczyk U, Aalfs CM, van Hest LP, Pinheiro H, Oliveira C, Jhangiani SN, Muzny DM, ... Gibbs RA, et al. Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. European Journal of Human Genetics : Ejhg. PMID 28875981 DOI: 10.1038/Ejhg.2017.138 |
0.324 |
|
2017 |
de Vries PS, Yu B, Feofanova EV, Metcalf GA, Brown MR, Zeighami AL, Liu X, Muzny DM, Gibbs RA, Boerwinkle E, Morrison AC. Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study. Human Molecular Genetics. 26: 3442-3450. PMID 28854705 DOI: 10.1093/Hmg/Ddx266 |
0.351 |
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2017 |
Dinckan N, Du R, Petty LE, Coban-Akdemir Z, Jhangiani SN, Paine I, Baugh EH, Erdem AP, Kayserili H, Doddapaneni H, Hu J, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, et al. Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. Journal of Dental Research. 22034517724149. PMID 28813618 DOI: 10.1177/0022034517724149 |
0.376 |
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2017 |
Pearce SL, Clarke DF, East PD, Elfekih S, Gordon KHJ, Jermiin LS, McGaughran A, Oakeshott JG, Papanikolaou A, Perera OP, Rane RV, Richards S, Tay WT, Walsh TK, Anderson A, ... ... Gibbs RA, et al. Genomic innovations, transcriptional plasticity and gene loss underlying the evolution and divergence of two highly polyphagous and invasive Helicoverpa pest species. Bmc Biology. 15: 63. PMID 28756777 DOI: 10.1186/S12915-017-0402-6 |
0.313 |
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2017 |
Schwager EE, Sharma PP, Clarke T, Leite DJ, Wierschin T, Pechmann M, Akiyama-Oda Y, Esposito L, Bechsgaard J, Bilde T, Buffry AD, Chao H, Dinh H, Doddapaneni H, Dugan S, ... ... Gibbs RA, et al. The house spider genome reveals an ancient whole-genome duplication during arachnid evolution. Bmc Biology. 15: 62. PMID 28756775 DOI: 10.1186/S12915-017-0399-X |
0.357 |
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2017 |
Bayram Y, White JJ, Elcioglu N, Cho MT, Zadeh N, Gedikbasi A, Palanduz S, Ozturk S, Cefle K, Kasapcopur O, Coban Akdemir Z, Pehlivan D, Begtrup A, Carvalho CMB, Paine IS, ... ... Gibbs RA, et al. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. American Journal of Human Genetics. 101: 149-156. PMID 28686854 DOI: 10.1016/J.Ajhg.2017.06.006 |
0.349 |
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2017 |
Marom R, Jain M, Burrage LC, Song IW, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, ... ... Gibbs RA, et al. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Human Mutation. PMID 28649782 DOI: 10.1002/Humu.23282 |
0.33 |
|
2017 |
Jehee FS, de Oliveira VT, Gurgel-Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, de Freitas ML, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R, White JJ, Akdemir ZC, ... ... Gibbs RA, et al. Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. American Journal of Medical Genetics. Part A. PMID 28631899 DOI: 10.1002/Ajmg.A.38315 |
0.338 |
|
2017 |
Rustagi N, Zhou A, Watkins WS, Gedvilaite E, Wang S, Ramesh N, Muzny D, Gibbs RA, Jorde LB, Yu F, Xing J. Extremely low-coverage whole genome sequencing in South Asians captures population genomics information. Bmc Genomics. 18: 396. PMID 28532386 DOI: 10.1186/S12864-017-3767-6 |
0.342 |
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2017 |
Eyun SI, Young Soh H, Posavi M, Munro JB, Hughes DST, Murali SC, Qu J, Dugan S, Lee SL, Chao H, Dinh H, Han Y, Doddapaneni H, Worley KC, Muzny DM, ... ... Gibbs RA, et al. Evolutionary History of Chemosensory-Related Gene Families Across the Arthropoda. Molecular Biology and Evolution. PMID 28460028 DOI: 10.1093/Molbev/Msx147 |
0.306 |
|
2017 |
Prall TM, Graham ME, Karl JA, Wiseman RW, Ericsen AJ, Raveendran M, Alan Harris R, Muzny DM, Gibbs RA, Rogers J, O'Connor DH. Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques. Immunogenetics. PMID 28343239 DOI: 10.1007/S00251-017-0977-7 |
0.386 |
|
2017 |
Eicher JD, Chen MH, Pitsillides AN, Lin H, Veeraraghavan N, Brody JA, Metcalf GA, Muzny DM, Gibbs RA, Becker DM, Becker LC, Faraday N, Mathias RA, Yanek LR, Boerwinkle E, et al. Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation. Thrombosis and Haemostasis. PMID 28300864 DOI: 10.1160/Th16-09-0677 |
0.31 |
|
2017 |
Wang X, Charng WL, Chen CA, Rosenfeld JA, Al Shamsi A, Al-Gazali L, McGuire M, Mew NA, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, et al. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nature Genetics. PMID 28288113 DOI: 10.1038/Ng.3815 |
0.323 |
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2017 |
Egunsola AT, Bae Y, Jiang MM, Liu DS, Chen-Evenson Y, Bertin T, Chen S, Lu JT, Nevarez L, Magal N, Raas-Rothschild A, Swindell EC, Cohn DH, Gibbs RA, Campeau PM, et al. Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. The Journal of Clinical Investigation. PMID 28263186 DOI: 10.1172/Jci90193 |
0.321 |
|
2017 |
Chen Y, Zhao L, Wang Y, Cao M, Gelowani V, Xu M, Agrawal SA, Li Y, Daiger SP, Gibbs R, Wang F, Chen R. SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. Bmc Bioinformatics. 18: 147. PMID 28253855 DOI: 10.1186/S12859-017-1566-3 |
0.355 |
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2017 |
Liu P, Yuan B, Carvalho CM, Wuster A, Walter K, Zhang L, Gambin T, Chong Z, Campbell IM, Coban Akdemir Z, Gelowani V, Writzl K, Bacino CA, Lindsay SJ, Withers M, ... ... Gibbs RA, et al. An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 168: 830-842.e7. PMID 28235197 DOI: 10.1016/J.Cell.2017.01.037 |
0.359 |
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2017 |
Scarpa A, Chang DK, Nones K, Corbo V, Patch AM, Bailey P, Lawlor RT, Johns AL, Miller DK, Mafficini A, Rusev B, Scardoni M, Antonello D, Barbi S, Sikora KO, ... ... Gibbs RA, et al. Whole-genome landscape of pancreatic neuroendocrine tumours. Nature. PMID 28199314 DOI: 10.1038/Nature21063 |
0.352 |
|
2017 |
Papanicolaou A, Schetelig MF, Arensburger P, Atkinson PW, Benoit JB, Bourtzis K, Castañera P, Cavanaugh JP, Chao H, Childers C, Curril I, Dinh H, Doddapaneni H, Dolan A, Dugan S, ... ... Gibbs RA, et al. Erratum to: The whole genome sequence of the Mediterranean fruit fly, Ceratitis capitata (Wiedemann), reveals insights into the biology and adaptive evolution of a highly invasive pest species. Genome Biology. 18: 11. PMID 28100280 DOI: 10.1186/S13059-017-1155-9 |
0.327 |
|
2017 |
Morrison AC, Huang Z, Yu B, Metcalf G, Liu X, Ballantyne C, Coresh J, Yu F, Muzny D, Feofanova E, Rustagi N, Gibbs R, Boerwinkle E. Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. American Journal of Human Genetics. PMID 28089252 DOI: 10.1016/J.Ajhg.2016.12.009 |
0.373 |
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2017 |
Chinn I, Forbes LR, Nicholas SK, Mace E, Coban-Akdemir Z, Rider NL, Jhangiani SN, Wiszniewski WK, Gibbs RA, Lupski JR, Orange J. Whole Exome Sequencing Identifies Potential Defects in Multiple Immunodeficiency-Associated Genes in Individual Patients and Families with Primary Immunodeficiency Diseases Journal of Allergy and Clinical Immunology. 139: AB172. DOI: 10.1016/J.Jaci.2016.12.566 |
0.331 |
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2016 |
Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC, Campeau PM. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. Journal of Human Genetics. PMID 28003643 DOI: 10.1038/Jhg.2016.151 |
0.324 |
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2016 |
Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CM, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, ... ... Gibbs RA, et al. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Research. PMID 27980096 DOI: 10.1093/Nar/Gkw1237 |
0.351 |
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2016 |
Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. The New England Journal of Medicine. PMID 27959697 DOI: 10.1056/Nejmoa1516767 |
0.346 |
|
2016 |
Xue C, Raveendran M, Harris RA, Fawcett GL, Liu X, White S, Dahdouli M, Rio Deiros D, Below JE, Salerno W, Cox L, Fan G, Ferguson B, Horvath J, Johnson Z, ... ... Gibbs RA, et al. The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences. Genome Research. 26: 1651-1662. PMID 27934697 DOI: 10.1101/Gr.204255.116 |
0.359 |
|
2016 |
Temple KJ, Wright EN, Fierke CA, Gibbs RA. Synthesis of Non-natural, Frame-Shifted Isoprenoid Diphosphate Analogues. Organic Letters. 18: 6038-6041. PMID 27934359 DOI: 10.1021/Acs.Orglett.6B02977 |
0.709 |
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2016 |
Yu B, de Vries PS, Metcalf GA, Wang Z, Feofanova EV, Liu X, Muzny DM, Wagenknecht LE, Gibbs RA, Morrison AC, Boerwinkle E. Whole genome sequence analysis of serum amino acid levels. Genome Biology. 17: 237. PMID 27884205 DOI: 10.1186/S13059-016-1106-X |
0.322 |
|
2016 |
McKenna DD, Scully ED, Pauchet Y, Hoover K, Kirsch R, Geib SM, Mitchell RF, Waterhouse RM, Ahn SJ, Arsala D, Benoit JB, Blackmon H, Bledsoe T, Bowsher JH, Busch A, ... ... Gibbs RA, et al. Genome of the Asian longhorned beetle (Anoplophora glabripennis), a globally significant invasive species, reveals key functional and evolutionary innovations at the beetle-plant interface. Genome Biology. 17: 227. PMID 27832824 DOI: 10.1186/S13059-016-1088-8 |
0.327 |
|
2016 |
Loviglio MN, Beck CR, White JJ, Leleu M, Harel T, Guex N, Niknejad A, Bi W, Chen ES, Crespo I, Yan J, Charng WL, Gu S, Fang P, Coban-Akdemir Z, ... ... Gibbs RA, et al. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Medicine. 8: 105. PMID 27799067 DOI: 10.1186/S13073-016-0359-Z |
0.301 |
|
2016 |
Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, ... ... Gibbs RA, et al. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27657687 DOI: 10.1038/Gim.2016.131 |
0.316 |
|
2016 |
Hsu YH, Li G, Liu CT, Brody JA, Karasik D, Chou WC, Demissie S, Nandakumar K, Zhou Y, Cheng CH, Gill R, Gibbs RA, Muzny D, Santibanez J, Estrada K, et al. Targeted Sequencing of Genome Wide Significant Loci Associated with Bone Mineral Density (BMD) Reveals Significant Novel and Rare Variants: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study. Human Molecular Genetics. PMID 27616567 DOI: 10.1093/Hmg/Ddw289 |
0.316 |
|
2016 |
Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, ... ... Gibbs RA, et al. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. American Journal of Human Genetics. PMID 27616478 DOI: 10.1016/J.Ajhg.2016.07.011 |
0.346 |
|
2016 |
Sun Z, Mehta SC, Adamski CJ, Gibbs RA, Palzkill T. Deep Sequencing of Random Mutant Libraries Reveals the Active Site of the Narrow Specificity CphA Metallo-β-Lactamase is Fragile to Mutations. Scientific Reports. 6: 33195. PMID 27616327 DOI: 10.1038/Srep33195 |
0.304 |
|
2016 |
Huang Z, Rustagi N, Veeraraghavan N, Carroll A, Gibbs R, Boerwinkle E, Venkata MG, Yu F. A hybrid computational strategy to address WGS variant analysis in >5000 samples. Bmc Bioinformatics. 17: 361. PMID 27612449 DOI: 10.1186/S12859-016-1211-6 |
0.306 |
|
2016 |
Yu B, Li AH, Metcalf GA, Muzny DM, Morrison AC, White S, Mosley TH, Gibbs RA, Boerwinkle E. Loss-of-function variants influence the human serum metabolome. Science Advances. 2: e1600800. PMID 27602404 DOI: 10.1126/Sciadv.1600800 |
0.31 |
|
2016 |
Lubitz SA, Brody JA, Bihlmeyer NA, Roselli C, Weng LC, Christophersen IE, Alonso A, Boerwinkle E, Gibbs RA, Bis JC, Cupples LA, Mohler PJ, Nickerson DA, Muzny D, et al. Whole Exome Sequencing in Atrial Fibrillation. Plos Genetics. 12: e1006284. PMID 27589061 DOI: 10.1371/Journal.Pgen.1006284 |
0.308 |
|
2016 |
Polfus LM, Khajuria RK, Schick UM, Pankratz N, Pazoki R, Brody JA, Chen MH, Auer PL, Floyd JS, Huang J, Lange L, van Rooij FJ, Gibbs RA, Metcalf G, Muzny D, et al. Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. American Journal of Human Genetics. 99: 785. PMID 27588453 DOI: 10.1016/J.Ajhg.2016.08.002 |
0.338 |
|
2016 |
Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, ... ... Gibbs RA, et al. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. The Journal of Allergy and Clinical Immunology. PMID 27577878 DOI: 10.1016/J.Jaci.2016.05.042 |
0.319 |
|
2016 |
Polfus LM, Khajuria RK, Schick UM, Pankratz N, Pazoki R, Brody JA, Chen MH, Auer PL, Floyd JS, Huang J, Lange L, van Rooij FJ, Gibbs RA, Metcalf G, Muzny D, et al. Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. American Journal of Human Genetics. 99: 481-488. PMID 27486782 DOI: 10.1016/J.Ajhg.2016.06.016 |
0.321 |
|
2016 |
Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, et al. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. Bmc Medical Genomics. 9: 42. PMID 27435318 DOI: 10.1186/S12920-016-0208-3 |
0.346 |
|
2016 |
Temple KJ, Wright EN, Fierke CA, Gibbs RA. Exploration of GGTase-I substrate requirements. Part 2: Synthesis and biochemical analysis of novel saturated geranylgeranyl diphosphate analogs. Bioorganic & Medicinal Chemistry Letters. PMID 27342751 DOI: 10.1016/J.Bmcl.2016.06.035 |
0.721 |
|
2016 |
Temple KJ, Wright EN, Fierke CA, Gibbs RA. Exploration of GGTase-I substrate requirements. Part 1: Synthesis and biochemical evaluation of novel aryl-modified geranylgeranyl diphosphate analogs. Bioorganic & Medicinal Chemistry Letters. PMID 27342750 DOI: 10.1016/J.Bmcl.2016.06.034 |
0.72 |
|
2016 |
Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A. Two male sibs with severe micrognathia and a missense variant in MED12. European Journal of Medical Genetics. 59: 367-372. PMID 27286923 DOI: 10.1016/J.Ejmg.2016.06.001 |
0.307 |
|
2016 |
Foote AD, Vijay N, Ávila-Arcos MC, Baird RW, Durban JW, Fumagalli M, Gibbs RA, Hanson MB, Korneliussen TS, Martin MD, Robertson KM, Sousa VC, Vieira FG, Vinař T, Wade P, et al. Genome-culture coevolution promotes rapid divergence of killer whale ecotypes. Nature Communications. 7: 11693. PMID 27243207 DOI: 10.1038/Ncomms11693 |
0.336 |
|
2016 |
Bi W, Glass IA, Muzny DM, Gibbs RA, Eng CM, Yang Y, Sun A. Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). American Journal of Medical Genetics. Part A. PMID 27170158 DOI: 10.1002/Ajmg.A.37727 |
0.332 |
|
2016 |
Rustagi N, Hampton OA, Li J, Xi L, Gibbs RA, Plon SE, Kimmel M, Wheeler DA. ITD assembler: an algorithm for internal tandem duplication discovery from short-read sequencing data. Bmc Bioinformatics. 17: 188. PMID 27121965 DOI: 10.1186/S12859-016-1031-8 |
0.34 |
|
2016 |
Hoy MA, Waterhouse RM, Wu K, Estep AS, Ioannidis P, Palmer WJ, Pomerantz AF, Simão FA, Thomas J, Jiggins FM, Murphy TD, Pritham EJ, Robertson HM, Zdobnov EM, Gibbs RA, et al. Genome sequencing of the phytoseiid predatory mite Metaseiulus occidentalis reveals completely atomised Hox genes and super-dynamic intron evolution. Genome Biology and Evolution. PMID 26951779 DOI: 10.1093/Gbe/Evw048 |
0.372 |
|
2016 |
Chen F, Zhang Y, Şenbabaoğlu Y, Ciriello G, Yang L, Reznik E, Shuch B, Micevic G, De Velasco G, Shinbrot E, Noble MS, Lu Y, Covington KR, Xi L, Drummond JA, ... ... Gibbs RA, et al. Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma. Cell Reports. PMID 26947078 DOI: 10.1016/J.Celrep.2016.02.024 |
0.313 |
|
2016 |
Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, ... ... Gibbs RA, et al. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. American Journal of Human Genetics. 98: 562-570. PMID 26942288 DOI: 10.1016/J.Ajhg.2016.01.011 |
0.354 |
|
2016 |
White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA, van Bon BW, Sutton VR, Lupski JR, et al. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. American Journal of Human Genetics. PMID 26924530 DOI: 10.1016/J.Ajhg.2016.01.005 |
0.34 |
|
2016 |
Bailey P, Chang DK, Nones K, Johns AL, Patch AM, Gingras MC, Miller DK, Christ AN, Bruxner TJ, Quinn MC, Nourse C, Murtaugh LC, Harliwong I, Idrisoglu S, Manning S, ... ... Gibbs RA, et al. Genomic analyses identify molecular subtypes of pancreatic cancer. Nature. PMID 26909576 DOI: 10.1038/Nature16965 |
0.311 |
|
2016 |
Saliba J, Zabriskie R, Ghosh R, Powell BC, Hicks S, Kimmel M, Meng Q, Ritter DI, Wheeler DA, Gibbs RA, Tsai FT, Plon SE. Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs. Pharmacogenetics and Genomics. PMID 26906009 DOI: 10.1097/Fpc.0000000000000208 |
0.343 |
|
2016 |
Benoit JB, Adelman ZN, Reinhardt K, Dolan A, Poelchau M, Jennings EC, Szuter EM, Hagan RW, Gujar H, Shukla JN, Zhu F, Mohan M, Nelson DR, Rosendale AJ, Derst C, ... ... Gibbs RA, et al. Unique features of a global human ectoparasite identified through sequencing of the bed bug genome. Nature Communications. 7: 10165. PMID 26836814 DOI: 10.1038/Ncomms10165 |
0.363 |
|
2016 |
Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, ... ... Gibbs RA, et al. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations. American Journal of Human Genetics. PMID 26805781 DOI: 10.1016/J.Ajhg.2015.12.008 |
0.304 |
|
2016 |
Gingras MC, Covington KR, Chang DK, Donehower LA, Gill AJ, Ittmann MM, Creighton CJ, Johns AL, Shinbrot E, Dewal N, Fisher WE, Pilarsky C, Grützmann R, Overman MJ, ... ... Gibbs RA, et al. Ampullary Cancers Harbor the Tumor Suppressor Gene ELF3 and Exhibit Frequent WNT Dysregulation. Cell Reports. PMID 26804919 DOI: 10.1016/J.Celrep.2015.12.005 |
0.307 |
|
2016 |
White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, ... ... Gibbs RA, et al. POGZ truncating alleles cause syndromic intellectual disability. Genome Medicine. 8: 3. PMID 26739615 DOI: 10.1186/S13073-015-0253-0 |
0.333 |
|
2016 |
Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Nuchtern JG, Ramamurthy U, McGuire AL, ... ... Gibbs RA, et al. Abstract IA16: Clinical genomics for children with solid tumors: Current realities and future opportunities Clinical Cancer Research. 22. DOI: 10.1158/1557-3265.Pmsclingen15-Ia16 |
0.303 |
|
2016 |
Herati A, Butler P, Cengiz c, Bainbridge M, Lupski J, Gibbs R, Lipshultz L, Lamb D. MP70-01 IFT140 IS A NOVEL CANDIDATE GENE FOR IMPAIRED SPERMATOGENESIS: IDENTIFICATION BY WHOLE EXOME SEQUENCING AND VALIDATION WITH SANGER SEQUENCING Journal of Urology. 195. DOI: 10.1016/J.Juro.2016.02.1426 |
0.352 |
|
2015 |
Jennings BC, Danowitz AM, Wang YC, Gibbs RA, Distefano MD, Fierke CA. Analogs of farnesyl diphosphate alter CaaX substrate specificity and reactions rates of protein farnesyltransferase. Bioorganic & Medicinal Chemistry Letters. PMID 26803203 DOI: 10.1016/J.Bmcl.2015.12.079 |
0.538 |
|
2015 |
Campbell IM, Gambin T, Jhanghiani S, Grove ML, Veeraraghavan N, Muzny D, Shaw CA, Gibbs RA, Boerwinkle E, Yu F, Lupski JR. Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Human Mutation. PMID 26670213 DOI: 10.1002/Humu.22944 |
0.366 |
|
2015 |
Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, ... ... Gibbs RA, et al. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. American Journal of Human Genetics. 97: 904-13. PMID 26637980 DOI: 10.1016/J.Ajhg.2015.11.006 |
0.341 |
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2015 |
Simakov O, Kawashima T, Marlétaz F, Jenkins J, Koyanagi R, Mitros T, Hisata K, Bredeson J, Shoguchi E, Gyoja F, Yue JX, Chen YC, Freeman RM, Sasaki A, Hikosaka-Katayama T, ... ... Gibbs RA, et al. Hemichordate genomes and deuterostome origins. Nature. PMID 26580012 DOI: 10.1038/Nature16150 |
0.369 |
|
2015 |
Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, ... ... Gibbs RA, et al. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 88: 499-513. PMID 26539891 DOI: 10.1016/J.Neuron.2015.09.048 |
0.352 |
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2015 |
Bechsgaard J, Vanthournout B, Funch P, Vestbo S, Gibbs RA, Richards S, Sanggaard KW, Enghild JJ, Bilde T. Comparative genomic study of arachnid immune systems indicates loss of βGRPs and the IMD pathway. Journal of Evolutionary Biology. PMID 26528622 DOI: 10.1111/Jeb.12780 |
0.309 |
|
2015 |
Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Hsi-Yang Fritz M, Konkel MK, Malhotra A, Stütz AM, Shi X, Paolo Casale F, ... ... Gibbs RA, et al. An integrated map of structural variation in 2,504 human genomes. Nature. 526: 75-81. PMID 26432246 DOI: 10.1038/Nature15394 |
0.377 |
|
2015 |
Liu X, White S, Peng B, Johnson AD, Brody JA, Li AH, Huang Z, Carroll A, Wei P, Gibbs R, Klein RJ, Boerwinkle E. WGSA: an annotation pipeline for human genome sequencing studies. Journal of Medical Genetics. PMID 26395054 DOI: 10.1136/Jmedgenet-2015-103423 |
0.395 |
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2015 |
Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, et al. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26378787 DOI: 10.1038/Gim.2015.124 |
0.308 |
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2015 |
Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, et al. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Human Mutation. 36: 915-21. PMID 26295439 DOI: 10.1002/Humu.22858 |
0.305 |
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2015 |
Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, ... ... Gibbs RA, et al. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Reports. 12: 1169-83. PMID 26257172 DOI: 10.1016/J.Celrep.2015.07.023 |
0.365 |
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2015 |
Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani SN, Akdemir ZC, Gambin T, Bayram Y, Atik MM, Erdin S, Muzny D, Gibbs RA, Lupski JR. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. American Journal of Medical Genetics. Part A. 167: 2795-9. PMID 26238661 DOI: 10.1002/Ajmg.A.37263 |
0.324 |
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2015 |
Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, Lupski JR, Boerwinkle E. Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Medicine. 7: 54. PMID 26195989 DOI: 10.1186/S13073-015-0171-1 |
0.374 |
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2015 |
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, ... ... Gibbs RA, et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. American Journal of Human Genetics. 97: 199-215. PMID 26166479 DOI: 10.1016/J.Ajhg.2015.06.009 |
0.378 |
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2015 |
Anstead CA, Korhonen PK, Young ND, Hall RS, Jex AR, Murali SC, Hughes DS, Lee SF, Perry T, Stroehlein AJ, Ansell BR, Breugelmans B, Hofmann A, Qu J, Dugan S, ... ... Gibbs RA, et al. Lucilia cuprina genome unlocks parasitic fly biology to underpin future interventions. Nature Communications. 6: 7344. PMID 26108605 DOI: 10.1038/Ncomms8344 |
0.333 |
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2015 |
Ostrowski EA, Shen Y, Tian X, Sucgang R, Jiang H, Qu J, Katoh-Kurasawa M, Brock DA, Dinh C, Lara-Garduno F, Lee SL, Kovar CL, Dinh HH, Korchina V, Jackson L, ... ... Gibbs RA, et al. Genomic Signatures of Cooperation and Conflict in the Social Amoeba. Current Biology : Cb. 25: 1661-5. PMID 26051890 DOI: 10.1016/J.Cub.2015.04.059 |
0.321 |
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2015 |
Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, et al. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. American Journal of Human Genetics. 96: 841-9. PMID 25957469 DOI: 10.1016/J.Ajhg.2015.04.004 |
0.32 |
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2015 |
Ramasamy R, Bak?rc?o?lu ME, Cengiz C, Karaca E, Scovell J, Jhangiani SN, Akdemir ZC, Bainbridge M, Yu Y, Huff C, Gibbs RA, Lupski JR, Lamb DJ. Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. Fertility and Sterility. PMID 25956372 DOI: 10.1016/J.Fertnstert.2015.04.001 |
0.35 |
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2015 |
Li AH, Morrison AC, Kovar C, Cupples LA, Brody JA, Polfus LM, Yu B, Metcalf G, Muzny D, Veeraraghavan N, Liu X, Lumley T, Mosley TH, Gibbs RA, Boerwinkle E. Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease. Nature Genetics. 47: 640-2. PMID 25915599 DOI: 10.1038/Ng.3270 |
0.313 |
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2015 |
Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, ... ... Gibbs RA, et al. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nature Genetics. 47: 654-60. PMID 25894502 DOI: 10.1038/Ng.3279 |
0.318 |
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2015 |
Pehlivan D, Coban Akdemir Z, Karaca E, Bayram Y, Jhangiani S, Yildiz EP, Muzny D, Uluc K, Gibbs RA, Elcioglu N, Lupski JR, Harel T. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Human Genetics. 134: 671-3. PMID 25893792 DOI: 10.1007/S00439-015-1548-3 |
0.31 |
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2015 |
Wang M, Beck CR, English AC, Meng Q, Buhay C, Han Y, Doddapaneni HV, Yu F, Boerwinkle E, Lupski JR, Muzny DM, Gibbs RA. PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. Bmc Genomics. 16: 214. PMID 25887218 DOI: 10.1186/S12864-015-1370-2 |
0.374 |
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2015 |
English AC, Salerno WJ, Hampton OA, Gonzaga-Jauregui C, Ambreth S, Ritter DI, Beck CR, Davis CF, Dahdouli M, Ma S, Carroll A, Veeraraghavan N, Bruestle J, Drees B, Hastie A, ... ... Gibbs RA, et al. Assessing structural variation in a personal genome-towards a human reference diploid genome. Bmc Genomics. 16: 286. PMID 25886820 DOI: 10.1186/S12864-015-1479-3 |
0.355 |
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2015 |
Bayram Y, Aydin H, Gambin T, Akdemir ZC, Atik MM, Karaca E, Karaman A, Pehlivan D, Jhangiani SN, Gibbs RA, Lupski JR. Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. American Journal of Medical Genetics. Part A. PMID 25846457 DOI: 10.1002/Ajmg.A.37092 |
0.334 |
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2015 |
White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, ... ... Gibbs RA, et al. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. American Journal of Human Genetics. 96: 612-22. PMID 25817016 DOI: 10.1016/J.Ajhg.2015.02.015 |
0.363 |
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2015 |
Yu F, Lu J, Liu X, Gazave E, Chang D, Raj S, Hunter-Zinck H, Blekhman R, Arbiza L, Van Hout C, Morrison A, Johnson AD, Bis J, Cupples LA, Psaty BM, ... ... Gibbs RA, et al. Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions. Plos One. 10: e0121644. PMID 25807536 DOI: 10.1371/Journal.Pone.0121644 |
0.339 |
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2015 |
Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Gulsuner HU, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, ... ... Gibbs RA, et al. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. The Journal of Clinical Endocrinology and Metabolism. 100: E808-14. PMID 25774885 DOI: 10.1210/Jc.2015-1150 |
0.305 |
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2015 |
Challis D, Antunes L, Garrison E, Banks E, Evani US, Muzny D, Poplin R, Gibbs RA, Marth G, Yu F. The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes. Bmc Genomics. 16: 143. PMID 25765891 DOI: 10.1186/S12864-015-1333-7 |
0.312 |
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2015 |
Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny D, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, et al. FBN1 contributing to familial congenital diaphragmatic hernia. American Journal of Medical Genetics. Part A. 167: 831-6. PMID 25736269 DOI: 10.1002/Ajmg.A.36960 |
0.34 |
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2015 |
Cameron RA, Kudtarkar P, Gordon SM, Worley KC, Gibbs RA. Do echinoderm genomes measure up? Marine Genomics. 22: 1-9. PMID 25701080 DOI: 10.1016/J.Margen.2015.02.004 |
0.334 |
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2015 |
Collison FT, Xie YA, Gambin T, Jhangiani S, Muzny D, Gibbs R, Lupski JR, Fishman GA, Allikmets R. Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull's Eye Maculopathy. Ophthalmic Genetics. 1-6. PMID 25687216 DOI: 10.3109/13816810.2015.1010736 |
0.314 |
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2015 |
McMichael G, Bainbridge MN, Haan E, Corbett M, Gardner A, Thompson S, van Bon BW, van Eyk CL, Broadbent J, Reynolds C, O'Callaghan ME, Nguyen LS, Adelson DL, Russo R, Jhangiani S, ... ... Gibbs RA, et al. Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Molecular Psychiatry. 20: 176-82. PMID 25666757 DOI: 10.1038/Mp.2014.189 |
0.356 |
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2015 |
Jalali A, Amirian ES, Bainbridge MN, Armstrong GN, Liu Y, Tsavachidis S, Jhangiani SN, Plon SE, Lau CC, Claus EB, Barnholtz-Sloan JS, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, ... ... Gibbs RA, et al. Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. Scientific Reports. 5: 8278. PMID 25652157 DOI: 10.1038/Srep08278 |
0.317 |
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2015 |
Foote AD, Liu Y, Thomas GW, Vina? T, Alföldi J, Deng J, Dugan S, van Elk CE, Hunter ME, Joshi V, Khan Z, Kovar C, Lee SL, Lindblad-Toh K, Mancia A, ... ... Gibbs RA, et al. Convergent evolution of the genomes of marine mammals. Nature Genetics. 47: 272-5. PMID 25621460 DOI: 10.1038/Ng.3198 |
0.346 |
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2015 |
Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, ... ... Gibbs RA, et al. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. The Journal of Clinical Investigation. 125: 636-51. PMID 25574841 DOI: 10.1172/Jci77435 |
0.328 |
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2015 |
Ritter DI, Haines K, Cheung H, Davis CF, Lau CC, Berg JS, Brown CW, Thompson PA, Gibbs R, Wheeler DA, Plon SE. Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 25569436 DOI: 10.1038/Gim.2014.189 |
0.376 |
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2015 |
Darling JE, Zhao F, Loftus RJ, Patton LM, Gibbs RA, Hougland JL. Structure-activity analysis of human ghrelin O-acyltransferase reveals chemical determinants of ghrelin selectivity and acyl group recognition. Biochemistry. 54: 1100-10. PMID 25562443 DOI: 10.1021/Bi5010359 |
0.332 |
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2015 |
Peng X, Thierry-Mieg J, Thierry-Mieg D, Nishida A, Pipes L, Bozinoski M, Thomas MJ, Kelly S, Weiss JM, Raveendran M, Muzny D, Gibbs RA, Rogers J, Schroth GP, Katze MG, et al. Tissue-specific transcriptome sequencing analysis expands the non-human primate reference transcriptome resource (NHPRTR). Nucleic Acids Research. 43: D737-42. PMID 25392405 DOI: 10.1093/Nar/Gku1110 |
0.305 |
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2015 |
Schick UM, Auer PL, Bis JC, Lin H, Wei P, Pankratz N, Lange LA, Brody J, Stitziel NO, Kim DS, Carlson CS, Fornage M, Haessler J, Hsu L, Jackson RD, ... ... Gibbs R, et al. Association of exome sequences with plasma C-reactive protein levels in >9000 participants. Human Molecular Genetics. 24: 559-71. PMID 25187575 DOI: 10.1093/Hmg/Ddu450 |
0.323 |
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2015 |
Gonzaga-Jauregui C, Gamble CN, Yuan B, Penney S, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Hecht JT. Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. European Journal of Human Genetics : Ejhg. 23: 342-6. PMID 24986830 DOI: 10.1038/Ejhg.2014.107 |
0.338 |
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2015 |
Gingras M, Johns A, Gill A, Overman M, Pilarsky C, Grimmond S, Biankin A, Wheeler D, Gibbs R. Abstract PR06: The ampullary adenocarcinoma, its molecular characterization and differentiation from the pancreatic ductal adenocarcinoma, duodenal adenocarcinoma, and cholangiocarcinoma Cancer Research. 75. DOI: 10.1158/1538-7445.Panca2014-Pr06 |
0.314 |
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2015 |
Hampton OA, Rustagi N, Li J, Xi L, Gibbs RA, Plon SE, Kimmel M, Wheeler DA. Abstract 4856: ITD Assembler: An algorithm for internal tandem duplication discovery from short-read sequencing data Cancer Research. 75: 4856-4856. DOI: 10.1158/1538-7445.Am2015-4856 |
0.345 |
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2015 |
Gibbs RA. The molecular architecture of disease Pathology. 47: S30. DOI: 10.1097/01.Pat.0000461413.96476.2F |
0.336 |
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2015 |
Gibbs RA. Clinical translation of genomics Pathology. 47: S28. DOI: 10.1097/01.Pat.0000461405.81229.Ee |
0.36 |
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2015 |
Lin FY, Bavle A, Wheeler D, Gibbs R, Lam S, Su J, Chintagumpala M, Adesina A, Roy A, Plon SE, Parsons DW. GE-06 * IDENTIFICATION OF TARGETABLE MUTATIONS IN RARE PEDIATRIC BRAIN TUMORS BY CLINICAL WHOLE EXOME SEQUENCING Neuro-Oncology. 17: iii8-iii8. DOI: 10.1093/Neuonc/Nov061.30 |
0.31 |
|
2014 |
Chipman AD, Ferrier DE, Brena C, Qu J, Hughes DS, Schröder R, Torres-Oliva M, Znassi N, Jiang H, Almeida FC, Alonso CR, Apostolou Z, Aqrawi P, Arthur W, Barna JC, ... ... Gibbs RA, et al. The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima. Plos Biology. 12: e1002005. PMID 25423365 DOI: 10.1371/Journal.Pbio.1002005 |
0.384 |
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2014 |
Totoki Y, Tatsuno K, Covington KR, Ueda H, Creighton CJ, Kato M, Tsuji S, Donehower LA, Slagle BL, Nakamura H, Yamamoto S, Shinbrot E, Hama N, Lehmkuhl M, Hosoda F, ... ... Gibbs RA, et al. Trans-ancestry mutational landscape of hepatocellular carcinoma genomes. Nature Genetics. 46: 1267-73. PMID 25362482 DOI: 10.1038/Ng.3126 |
0.341 |
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2014 |
Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM. Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia. Plos One. 9: e110740. PMID 25360671 DOI: 10.1371/Journal.Pone.0110740 |
0.328 |
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2014 |
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, ... ... Gibbs RA, et al. Molecular findings among patients referred for clinical whole-exome sequencing. Jama. 312: 1870-9. PMID 25326635 DOI: 10.1001/Jama.2014.14601 |
0.313 |
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2014 |
Scollon S, Bergstrom K, Kerstein RA, Wang T, Hilsenbeck SG, Ramamurthy U, Gibbs RA, Eng CM, Chintagumpala MM, Berg SL, McCullough LB, McGuire AL, Plon SE, Parsons DW. Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients. Genome Medicine. 6: 69. PMID 25317207 DOI: 10.1186/S13073-014-0069-3 |
0.312 |
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2014 |
Morrison AC, Bis JC, Hwang SJ, Ehret GB, Lumley T, Rice K, Muzny D, Gibbs RA, Boerwinkle E, Psaty BM, Chakravarti A, Levy D. Sequence analysis of six blood pressure candidate regions in 4,178 individuals: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study. Plos One. 9: e109155. PMID 25275628 DOI: 10.1371/Journal.Pone.0109155 |
0.312 |
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2014 |
Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, ... ... Gibbs RA, et al. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 159: 200-14. PMID 25259927 DOI: 10.1016/J.Cell.2014.09.002 |
0.35 |
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2014 |
Carbone L, Harris RA, Gnerre S, Veeramah KR, Lorente-Galdos B, Huddleston J, Meyer TJ, Herrero J, Roos C, Aken B, Anaclerio F, Archidiacono N, Baker C, Barrell D, Batzer MA, ... ... Gibbs RA, et al. Gibbon genome and the fast karyotype evolution of small apes. Nature. 513: 195-201. PMID 25209798 DOI: 10.1038/Nature13679 |
0.336 |
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2014 |
Davis CF, Ricketts CJ, Wang M, Yang L, Cherniack AD, Shen H, Buhay C, Kang H, Kim SC, Fahey CC, Hacker KE, Bhanot G, Gordenin DA, Chu A, Gunaratne PH, ... ... Gibbs RA, et al. The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 26: 319-30. PMID 25155756 DOI: 10.1016/J.Ccr.2014.07.014 |
0.348 |
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2014 |
Li Q, Liu X, Gibbs RA, Boerwinkle E, Polychronakos C, Qu HQ. Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. Plos One. 9: e104452. PMID 25136813 DOI: 10.1371/Journal.Pone.0104452 |
0.303 |
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2014 |
Kyrpides NC, Hugenholtz P, Eisen JA, Woyke T, Göker M, Parker CT, Amann R, Beck BJ, Chain PS, Chun J, Colwell RR, Danchin A, Dawyndt P, Dedeurwaerdere T, DeLong EF, ... ... Gibbs R, et al. Genomic encyclopedia of bacteria and archaea: sequencing a myriad of type strains. Plos Biology. 12: e1001920. PMID 25093819 DOI: 10.1371/Journal.Pbio.1001920 |
0.344 |
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2014 |
Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, Kosmicki JA, Rehnström K, Mallick S, Kirby A, Wall DP, MacArthur DG, Gabriel SB, DePristo M, Purcell SM, ... ... Gibbs RA, et al. A framework for the interpretation of de novo mutation in human disease. Nature Genetics. 46: 944-50. PMID 25086666 DOI: 10.1038/Ng.3050 |
0.319 |
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2014 |
Rajagopal A, Braslavsky D, Lu JT, Kleppe S, Clément F, Cassinelli H, Liu DS, Liern JM, Vallejo G, Bergadá I, Gibbs RA, Campeau PM, Lee BH. Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis. The Journal of Clinical Endocrinology and Metabolism. 99: E2451-6. PMID 25050900 DOI: 10.1210/Jc.2014-1517 |
0.313 |
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2014 |
Chen PC, Yin J, Yu HW, Yuan T, Fernandez M, Yung CK, Trinh QM, Peltekova VD, Reid JG, Tworog-Dube E, Morgan MB, Muzny DM, Stein L, McPherson JD, Roberts AE, ... Gibbs RA, et al. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proceedings of the National Academy of Sciences of the United States of America. 111: 11473-8. PMID 25049390 DOI: 10.1073/Pnas.1324128111 |
0.348 |
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2014 |
Bayram Y, Pehlivan D, Karaca E, Gambin T, Jhangiani SN, Erdin S, Gonzaga-Jauregui C, Wiszniewski W, Muzny D, Elcioglu NH, Yildirim MS, Bozkurt B, Zamani AG, Boerwinkle E, ... Gibbs RA, et al. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. American Journal of Medical Genetics. Part A. 164: 2328-34. PMID 25045128 DOI: 10.1002/Ajmg.A.36678 |
0.354 |
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2014 |
Murali C, Lu JT, Jain M, Liu DS, Lachman R, Gibbs RA, Lee BH, Cohn D, Campeau PM. Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. Molecular Genetics and Metabolism Reports. 1: 213-219. PMID 25019053 DOI: 10.1016/J.Ymgmr.2014.04.004 |
0.301 |
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2014 |
Chen ZX, Sturgill D, Qu J, Jiang H, Park S, Boley N, Suzuki AM, Fletcher AR, Plachetzki DC, FitzGerald PC, Artieri CG, Atallah J, Barmina O, Brown JB, Blankenburg KP, ... ... Gibbs RA, et al. Comparative validation of the D. melanogaster modENCODE transcriptome annotation. Genome Research. 24: 1209-23. PMID 24985915 DOI: 10.1101/Gr.159384.113 |
0.365 |
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2014 |
Cornes BK, Brody JA, Nikpoor N, Morrison AC, Dang HC, Ahn BS, Wang S, Dauriz M, Barzilay JI, Dupuis J, Florez JC, Coresh J, Gibbs RA, Kao WH, Liu CT, et al. Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circulation. Cardiovascular Genetics. 7: 374-82. PMID 24951664 DOI: 10.1161/Circgenetics.113.000169 |
0.322 |
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2014 |
Bis JC, White CC, Franceschini N, Brody J, Zhang X, Muzny D, Santibanez J, Gibbs R, Liu X, Lin H, Boerwinkle E, Psaty BM, North KE, Cupples LA, O'Donnell CJ, et al. Sequencing of 2 subclinical atherosclerosis candidate regions in 3669 individuals: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circulation. Cardiovascular Genetics. 7: 359-64. PMID 24951662 DOI: 10.1161/Circgenetics.113.000116 |
0.302 |
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2014 |
London SJ, Gao W, Gharib SA, Hancock DB, Wilk JB, House JS, Gibbs RA, Muzny DM, Lumley T, Franceschini N, North KE, Psaty BM, Kovar CL, Coresh J, Zhou Y, et al. ADAM19 and HTR4 variants and pulmonary function: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circulation. Cardiovascular Genetics. 7: 350-8. PMID 24951661 DOI: 10.1161/Circgenetics.113.000066 |
0.323 |
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2014 |
Liu CT, Young KL, Brody JA, Olden M, Wojczynski MK, Heard-Costa N, Li G, Morrison AC, Muzny D, Gibbs RA, Reid JG, Shao Y, Zhou Y, Boerwinkle E, Heiss G, et al. Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circulation. Cardiovascular Genetics. 7: 344-9. PMID 24951660 DOI: 10.1161/Circgenetics.13.000067 |
0.325 |
|
2014 |
Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, ... ... Gibbs RA, et al. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. American Journal of Human Genetics. 95: 96-107. PMID 24931394 DOI: 10.1016/J.Ajhg.2014.05.007 |
0.336 |
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2014 |
Xie YA, Lee W, Cai C, Gambin T, Nõupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny D, Boerwinkle E, Gibbs R, Greenstein VC, Lupski JR, Tsang SH, Allikmets R. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Human Molecular Genetics. 23: 5774-80. PMID 24916380 DOI: 10.1093/Hmg/Ddu291 |
0.335 |
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2014 |
Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, ... ... Gibbs RA, et al. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. American Journal of Human Genetics. 94: 915-23. PMID 24906020 DOI: 10.1016/J.Ajhg.2014.05.005 |
0.323 |
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2014 |
Wang L, Yamaguchi S, Burstein MD, Terashima K, Chang K, Ng HK, Nakamura H, He Z, Doddapaneni H, Lewis L, Wang M, Suzuki T, Nishikawa R, Natsume A, Terasaka S, ... ... Gibbs RA, et al. Novel somatic and germline mutations in intracranial germ cell tumours. Nature. 511: 241-5. PMID 24896186 DOI: 10.1038/Nature13296 |
0.322 |
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2014 |
Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, ... ... Gibbs RA, et al. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. American Journal of Human Genetics. 94: 784-9. PMID 24791903 DOI: 10.1016/J.Ajhg.2014.04.006 |
0.326 |
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2014 |
Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM, Gonzaga-Jauregui C, Gambin T, ... ... Gibbs RA, et al. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 157: 636-50. PMID 24766809 DOI: 10.1016/J.Cell.2014.02.058 |
0.314 |
|
2014 |
Lindstrand A, Davis EE, Carvalho CM, Pehlivan D, Willer JR, Tsai IC, Ramanathan S, Zuppan C, Sabo A, Muzny D, Gibbs R, Liu P, Lewis RA, Banin E, Lupski JR, et al. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. American Journal of Human Genetics. 94: 745-54. PMID 24746959 DOI: 10.1016/J.Ajhg.2014.03.017 |
0.368 |
|
2014 |
Huang W, Massouras A, Inoue Y, Peiffer J, Ràmia M, Tarone AM, Turlapati L, Zichner T, Zhu D, Lyman RF, Magwire MM, Blankenburg K, Carbone MA, Chang K, Ellis LL, ... ... Gibbs RA, et al. Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines. Genome Research. 24: 1193-208. PMID 24714809 DOI: 10.1101/Gr.171546.113 |
0.373 |
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2014 |
Rogers J, Gibbs RA. Comparative primate genomics: emerging patterns of genome content and dynamics. Nature Reviews. Genetics. 15: 347-59. PMID 24709753 DOI: 10.1038/Nrg3707 |
0.336 |
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2014 |
Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, ... ... Gibbs RA, et al. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. Plos Genetics. 10: e1004258. PMID 24676022 DOI: 10.1371/Journal.Pgen.1004258 |
0.335 |
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2014 |
Gonzaga-Jauregui C, Mir S, Penney S, Jhangiani S, Midgen C, Finegold M, Muzny DM, Wang M, Bacino CA, Gibbs RA, Lupski JR, Kellermayer R, Hanchard NA. Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. Journal of Pediatric Gastroenterology and Nutrition. 59: 17-21. PMID 24614124 DOI: 10.1097/Mpg.0000000000000363 |
0.353 |
|
2014 |
Elsik CG, Worley KC, Bennett AK, Beye M, Camara F, Childers CP, de Graaf DC, Debyser G, Deng J, Devreese B, Elhaik E, Evans JD, Foster LJ, Graur D, Guigo R, ... ... Gibbs RA, et al. Finding the missing honey bee genes: lessons learned from a genome upgrade. Bmc Genomics. 15: 86. PMID 24479613 DOI: 10.1186/1471-2164-15-86 |
0.365 |
|
2014 |
Reid JG, Carroll A, Veeraraghavan N, Dahdouli M, Sundquist A, English A, Bainbridge M, White S, Salerno W, Buhay C, Yu F, Muzny D, Daly R, Duyk G, Gibbs RA, et al. Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. Bmc Bioinformatics. 15: 30. PMID 24475911 DOI: 10.1186/1471-2105-15-30 |
0.329 |
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2014 |
Wang L, Swierczek SI, Lanikova L, Kim SJ, Hickman K, Walker K, Wang K, Drummond J, Doddapaneni H, Reid JG, Muzny DM, Gibbs RA, Wheeler DA, Prchal JT. The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera. Leukemia. 28: 938-41. PMID 24463469 DOI: 10.1038/Leu.2014.20 |
0.308 |
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2014 |
Pehlivan D, Karaca E, Aydin H, Beck CR, Gambin T, Muzny DM, Bilge Geckinli B, Karaman A, Jhangiani SN, Gibbs RA, Lupski JR. Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. European Journal of Human Genetics : Ejhg. 22: 1145-8. PMID 24424126 DOI: 10.1038/Ejhg.2013.291 |
0.338 |
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2014 |
Wang L, Swierczek SI, Drummond J, Hickman K, Kim SJ, Walker K, Doddapaneni H, Muzny DM, Gibbs RA, Wheeler DA, Prchal JT. Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes. Leukemia. 28: 935-8. PMID 24413320 DOI: 10.1038/Leu.2014.7 |
0.335 |
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2014 |
Sloan DB, Nakabachi A, Richards S, Qu J, Murali SC, Gibbs RA, Moran NA. Parallel histories of horizontal gene transfer facilitated extreme reduction of endosymbiont genomes in sap-feeding insects. Molecular Biology and Evolution. 31: 857-71. PMID 24398322 DOI: 10.1093/Molbev/Msu004 |
0.327 |
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2014 |
Gazave E, Ma L, Chang D, Coventry A, Gao F, Muzny D, Boerwinkle E, Gibbs RA, Sing CF, Clark AG, Keinan A. Neutral genomic regions refine models of recent rapid human population growth. Proceedings of the National Academy of Sciences of the United States of America. 111: 757-62. PMID 24379384 DOI: 10.1073/Pnas.1310398110 |
0.341 |
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2014 |
Parikh N, Hilsenbeck S, Creighton CJ, Dayaram T, Shuck R, Shinbrot E, Xi L, Gibbs RA, Wheeler DA, Donehower LA. Effects of TP53 mutational status on gene expression patterns across 10 human cancer types. The Journal of Pathology. 232: 522-33. PMID 24374933 DOI: 10.1002/Path.4321 |
0.306 |
|
2014 |
Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, ... ... Gibbs RA, et al. The genetic basis of DOORS syndrome: an exome-sequencing study. The Lancet. Neurology. 13: 44-58. PMID 24291220 DOI: 10.1016/S1474-4422(13)70265-5 |
0.311 |
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2014 |
Lin H, Sinner MF, Brody JA, Arking DE, Lunetta KL, Rienstra M, Lubitz SA, Magnani JW, Sotoodehnia N, McKnight B, McManus DD, Boerwinkle E, Psaty BM, Rotter JI, Bis JC, ... Gibbs RA, et al. Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study. Heart Rhythm : the Official Journal of the Heart Rhythm Society. 11: 452-7. PMID 24239840 DOI: 10.1016/J.Hrthm.2013.11.012 |
0.352 |
|
2014 |
Shalev SA, Tenenbaum-Rakover Y, Horovitz Y, Paz VP, Ye H, Carmody D, Highland HM, Boerwinkle E, Hanis CL, Muzny DM, Gibbs RA, Bell GI, Philipson LH, Greeley SA. Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. Pediatric Diabetes. 15: 252-6. PMID 24138066 DOI: 10.1111/Pedi.12086 |
0.309 |
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2014 |
Okamoto Y, Goksungur MT, Pehlivan D, Beck CR, Gonzaga-Jauregui C, Muzny DM, Atik MM, Carvalho CM, Matur Z, Bayraktar S, Boone PM, Akyuz K, Gibbs RA, Battaloglu E, Parman Y, et al. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 386-94. PMID 24136616 DOI: 10.1038/Gim.2013.155 |
0.309 |
|
2014 |
Parsons DW, Roy A, Monzon FA, Yang Y, Lopez-Terrada DH, Chintagumpala MM, Berg SL, Nuchtern JG, Hilsenbeck SG, Wang T, Kerstein RA, Scollon S, Bergstrom K, Ramamurthy U, Reid JG, ... ... Gibbs RA, et al. What’s in an exome? Diversity of diagnostic and incidental findings revealed by clinical tumor and germline sequencing of 100 children with solid tumors. Journal of Clinical Oncology. 32: 10012-10012. DOI: 10.1200/Jco.2014.32.15_Suppl.10012 |
0.322 |
|
2014 |
Wang L, Yamaguchi S, Terashima K, Burstein MD, Nakamura H, Susuki T, Nishikawa R, Natsume A, Terasaka S, Ng HK, Adesina A, Gibbs R, Wheeler D, Lau C. Abstract PR04: Novel somatic and germline mutations in intracranial germ cell tumors Cancer Research. 74. DOI: 10.1158/1538-7445.Pedcan-Pr04 |
0.333 |
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2014 |
Saliba J, Zabriskie R, Powell B, Hicks S, Kimmel M, Cheung H, Ritter D, Muzny DM, Reid JG, Wheeler DA, Gibbs RA, Plon SE. Abstract A8: Functional analysis of genomic variants identified through whole exome sequencing of pediatric lymphocytic leukemia kindreds Cancer Research. 74. DOI: 10.1158/1538-7445.Pedcan-A8 |
0.358 |
|
2014 |
Plon SE, Scollon S, Bergstrom K, Kerstein RA, Chintagumpala M, Berg SL, Hilsenbeck SG, Wang T, Rednam S, Wheeler D, McCullough L, Street R, McGuire AL, Jeffrey RG, Muzny DM, ... ... Gibbs RA, et al. Abstract 11: Evaluating cancer susceptibility mutations and incidental findings from whole exome sequencing of sequentially diagnosed pediatric solid and brain tumor patients: Early results of the BASIC3 study Cancer Research. 74: 11-11. DOI: 10.1158/1538-7445.Cansusc14-11 |
0.341 |
|
2014 |
Wheeler DA, Wang L, Swierczek S, Hickman K, Drummond JA, Muzny D, Gibbs RA, Prchal J. Abstract LB-311: Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes Cancer Research. 74. DOI: 10.1158/1538-7445.Am2014-Lb-311 |
0.332 |
|
2014 |
Parsons DW, Roy A, Monzon FA, Yang Y, López-Terrada DH, Chintagumpala MM, Berg SL, Hilsenbeck SG, Wang T, Kerstein RA, Scollon S, Bergstrom K, Street RL, McCullough LB, McGuire AL, ... ... Gibbs RA, et al. Abstract 5169: Diagnostic yield of clinical tumor and germline exome sequencing for newly diagnosed children with solid tumors Cancer Research. 74: 5169-5169. DOI: 10.1158/1538-7445.Am2014-5169 |
0.331 |
|
2014 |
Hampton OA, Gibbs RA, Wheeler DA. Abstract 2370: Comparative evaluation of somatic mutations calls on single nucleotide variants and structural variants using breast cancer cell lines Cancer Research. 74: 2370-2370. DOI: 10.1158/1538-7445.Am2014-2370 |
0.376 |
|
2014 |
Larsen JE, Davis CF, Huffman K, Girard L, Wheeler DA, Gibbs RA, Minna JD. Abstract 1525: Exome sequencing to identify permissive mutations representing acquired vulnerabilities in lung cancer Cancer Research. 74: 1525-1525. DOI: 10.1158/1538-7445.Am2014-1525 |
0.306 |
|
2014 |
Parsons DW, Roy A, Monzon FA, Lopez-Terrada DH, Chintagumpala MM, Berg SL, Hilsenbeck SG, Wang T, Adesina AM, Li X, Kerstein RA, Scollon S, Bergstrom K, Street RL, McCullough LB, ... ... Gibbs RA, et al. ASSESSING THE UTILITY OF CLINICAL TUMOR SEQUENCING IN THE PEDIATRIC NEURO-ONCOLOGY CLINIC Neuro-Oncology. 16: iii24-iii24. DOI: 10.1093/Neuonc/Nou208.5 |
0.302 |
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2014 |
Mezina A, Gandhi K, Sabo A, Muzny D, Gibbs R, Hegde M, Karpen SJ. 845 Whole Exome Sequencing Identifies ABCB4 Gene Variants As Modifiers of Biliary Atresia Outcomes Gastroenterology. 146: S-928. DOI: 10.1016/S0016-5085(14)63373-4 |
0.333 |
|
2014 |
Brennan C, Verhaak R, McKenna A, Campos B, Noushmehr H, Salama S, Zheng S, Chakravarty D, Sanborn J, Berman S, Beroukhim R, Bernard B, Wu C, Genovese G, Shmulevich I, ... ... Gibbs R, et al. The Somatic Genomic Landscape of Glioblastoma Cell. 157: 753. DOI: 10.1016/J.Cell.2014.04.004 |
0.318 |
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2013 |
Hughes JF, Skaletsky H, Bellott DW, Chowdhary BP, Warren WC, Worley KC, Wilson RK, Gibbs RA, Page DC. No bull: upholding community standards in public sharing of biological datasets. Proceedings of the National Academy of Sciences of the United States of America. 110: E4277. PMID 24173037 DOI: 10.1073/Pnas.1315122110 |
0.313 |
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2013 |
Fang Y, Yao Q, Chen Z, Xiang J, William FE, Gibbs RA, Chen C. Genetic and molecular alterations in pancreatic cancer: implications for personalized medicine. Medical Science Monitor : International Medical Journal of Experimental and Clinical Research. 19: 916-26. PMID 24172537 DOI: 10.12659/Msm.889636 |
0.319 |
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2013 |
Gonzaga-Jauregui C, Lotze T, Jamal L, Penney S, Campbell IM, Pehlivan D, Hunter JV, Woodbury SL, Raymond G, Adesina AM, Jhangiani SN, Reid JG, Muzny DM, Boerwinkle E, Lupski JR, ... Gibbs RA, et al. Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. Jama Neurology. 70: 1491-8. PMID 24126608 DOI: 10.1001/Jamaneurol.2013.4598 |
0.344 |
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2013 |
Brennan CW, Verhaak RG, McKenna A, Campos B, Noushmehr H, Salama SR, Zheng S, Chakravarty D, Sanborn JZ, Berman SH, Beroukhim R, Bernard B, Wu CJ, Genovese G, Shmulevich I, ... ... Gibbs R, et al. The somatic genomic landscape of glioblastoma. Cell. 155: 462-77. PMID 24120142 DOI: 10.1016/J.Cell.2013.09.034 |
0.362 |
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2013 |
Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, ... ... Gibbs R, et al. Integrative annotation of variants from 1092 humans: application to cancer genomics. Science (New York, N.Y.). 342: 1235587. PMID 24092746 DOI: 10.1126/Science.1235587 |
0.359 |
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2013 |
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, ... ... Gibbs RA, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. The New England Journal of Medicine. 369: 1502-11. PMID 24088041 DOI: 10.1056/Nejmoa1306555 |
0.376 |
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2013 |
He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliffe JS, Schellenberg GD, Gibbs RA, Daly MJ, Buxbaum JD, State MW, Devlin B, Roeder K. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. Plos Genetics. 9: e1003671. PMID 23966865 DOI: 10.1371/Journal.Pgen.1003671 |
0.348 |
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2013 |
Bradnam KR, Fass JN, Alexandrov A, Baranay P, Bechner M, Birol I, Boisvert S, Chapman JA, Chapuis G, Chikhi R, Chitsaz H, Chou WC, Corbeil J, Del Fabbro C, Docking TR, ... ... Gibbs RA, et al. Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species. Gigascience. 2: 10. PMID 23870653 DOI: 10.1186/2047-217X-2-10 |
0.335 |
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2013 |
Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA. Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Medicine. 5: 57. PMID 23806086 DOI: 10.1186/Gm461 |
0.38 |
|
2013 |
Caramins M, Colebatch JG, Bainbridge MN, Scherer SS, Abrams CK, Hackett EL, Freidin MM, Jhangiani SN, Wang M, Wu Y, Muzny DM, Lindeman R, Gibbs RA. Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). Human Molecular Genetics. 22: 4329-38. PMID 23773993 DOI: 10.1093/Hmg/Ddt282 |
0.381 |
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2013 |
Morrison AC, Voorman A, Johnson AD, Liu X, Yu J, Li A, Muzny D, Yu F, Rice K, Zhu C, Bis J, Heiss G, O'Donnell CJ, Psaty BM, Cupples LA, ... Gibbs R, et al. Whole-genome sequence-based analysis of high-density lipoprotein cholesterol. Nature Genetics. 45: 899-901. PMID 23770607 DOI: 10.1038/Ng.2671 |
0.353 |
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2013 |
Schafer CM, Campbell NG, Cai G, Yu F, Makarov V, Yoon S, Daly MJ, Gibbs RA, Schellenberg GD, Devlin B, Sutcliffe JS, Buxbaum JD, Roeder K. Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA. Genomics. 102: 270-7. PMID 23743231 DOI: 10.1016/J.Ygeno.2013.05.005 |
0.333 |
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2013 |
Cheung YH, Gayden T, Campeau PM, LeDuc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, ... ... Gibbs RA, et al. A recurrent PDGFRB mutation causes familial infantile myofibromatosis. American Journal of Human Genetics. 92: 996-1000. PMID 23731537 DOI: 10.1016/J.Ajhg.2013.04.026 |
0.316 |
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2013 |
Baud A, Hermsen R, Guryev V, Stridh P, Graham D, McBride MW, Foroud T, Calderari S, Diez M, Ockinger J, Beyeen AD, Gillett A, Abdelmagid N, Guerreiro-Cacais AO, ... ... Gibbs RA, et al. Combined sequence-based and genetic mapping analysis of complex traits in outbred rats. Nature Genetics. 45: 767-75. PMID 23708188 DOI: 10.1038/Ng.2644 |
0.33 |
|
2013 |
Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kröger H, Cole WG, ... ... Gibbs RA, et al. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. The New England Journal of Medicine. 368: 1809-16. PMID 23656646 DOI: 10.1056/Nejmoa1215458 |
0.305 |
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2013 |
Lotta LA, Tuana G, Yu J, Martinelli I, Wang M, Yu F, Passamonti SM, Pappalardo E, Valsecchi C, Scherer SE, Hale W, Muzny DM, Randi G, Rosendaal FR, Gibbs RA, et al. Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis Journal of Thrombosis and Haemostasis. 11: 1228-1239. PMID 23648131 DOI: 10.1111/Jth.12291 |
0.34 |
|
2013 |
Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, et al. Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. American Journal of Human Genetics. 92: 781-91. PMID 23623387 DOI: 10.1016/J.Ajhg.2013.03.020 |
0.318 |
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2013 |
Pickering CR, Zhang J, Yoo SY, Bengtsson L, Moorthy S, Neskey DM, Zhao M, Ortega Alves MV, Chang K, Drummond J, Cortez E, Xie TX, Zhang D, Chung W, Issa JP, ... ... Gibbs RA, et al. Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers. Cancer Discovery. 3: 770-81. PMID 23619168 DOI: 10.1158/2159-8290.Cd-12-0537 |
0.358 |
|
2013 |
Chen Y, Hong J, Cui W, Zaneveld J, Wang W, Gibbs R, Xiao Y, Chen R. CGAP-Align: A High Performance DNA Short Read Alignment Tool Plos One. 8. PMID 23593381 DOI: 10.1371/Journal.Pone.0061033 |
0.316 |
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2013 |
Liu L, Sabo A, Neale BM, Nagaswamy U, Stevens C, Lim E, Bodea CA, Muzny D, Reid JG, Banks E, Coon H, Depristo M, Dinh H, Fennel T, Flannick J, ... ... Gibbs RA, et al. Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. Plos Genetics. 9: e1003443. PMID 23593035 DOI: 10.1371/Journal.Pgen.1003443 |
0.324 |
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2013 |
Ling PD, Reid JG, Qin X, Muzny DM, Gibbs R, Petrosino J, Peng R, Zong JC, Heaggans SY, Hayward GS. Complete Genome Sequence of Elephant Endotheliotropic Herpesvirus 1A. Genome Announcements. 1: e0010613. PMID 23580705 DOI: 10.1128/Genomea.00106-13 |
0.345 |
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2013 |
Burrage LC, Lu JT, Liu DS, Moss TJ, Gibbs R, Schlesinger AE, Bacino CA, Campeau PM, Lee BH. Early childhood presentation of Czech dysplasia. Clinical Dysmorphology. 22: 76-80. PMID 23448908 DOI: 10.1097/Mcd.0B013E32835Fff39 |
0.309 |
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2013 |
Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Medicine. 5: 11. PMID 23383720 DOI: 10.1186/Gm415 |
0.355 |
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2013 |
Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, ... ... Gibbs RA, et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 77: 235-42. PMID 23352160 DOI: 10.1016/J.Neuron.2012.12.029 |
0.316 |
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2013 |
Wang Y, Lu J, Yu J, Gibbs RA, Yu F. An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data Genome Research. 23: 833-842. PMID 23296920 DOI: 10.1101/Gr.146084.112 |
0.325 |
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2013 |
Powell BC, Jiang L, Muzny DM, Treviño LR, Dreyer ZE, Strong LC, Wheeler DA, Gibbs RA, Plon SE. Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing. Pediatric Blood & Cancer. 60: E1-3. PMID 23255406 DOI: 10.1002/Pbc.24417 |
0.352 |
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2013 |
Wang QY, Song J, Gibbs RA, Boerwinkle E, Dong JF, Yu FL. Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes. Journal of Thrombosis and Haemostasis : Jth. 11: 261-9. PMID 23216583 DOI: 10.1111/Jth.12093 |
0.603 |
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2013 |
Hanchard NA, Murdock DR, Magoulas PL, Bainbridge M, Muzny D, Wu YQ, Wang M, McGuire AL, Lupski JR, Gibbs RA, Brown CW. Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clinical Genetics. 83: 457-61. PMID 22901280 DOI: 10.1111/J.1399-0004.2012.01951.X |
0.328 |
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2013 |
Donehower LA, Creighton CJ, Schultz N, Shinbrot E, Chang K, Gunaratne PH, Muzny D, Sander C, Hamilton SR, Gibbs RA, Wheeler D. MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes. The Journal of Pathology. 229: 99-110. PMID 22899370 DOI: 10.1002/Path.4087 |
0.311 |
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2013 |
Crowley JJ, Hilliard CE, Kim Y, Morgan MB, Lewis LR, Muzny DM, Hawes AC, Sabo A, Wheeler DA, Lieberman JA, Sullivan PF, Gibbs RA. Deep resequencing and association analysis of schizophrenia candidate genes. Molecular Psychiatry. 18: 138-40. PMID 22472875 DOI: 10.1038/Mp.2012.28 |
0.32 |
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2013 |
Ritter D, Walker K, Kwon M, Lulla P, Bollard CM, Sheehan A, Heslop HE, Gibbs RA, Wheeler DA, Mims MP. Whole genome sequencing of sporadic Burkitt lymphoma in HIV-infected and uninfected patients. Journal of Clinical Oncology. 31: 8577-8577. DOI: 10.1200/Jco.2013.31.15_Suppl.8577 |
0.305 |
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2013 |
Sheehan VA, Crosby JR, Sabo A, Howard TA, Muzny DM, Reid JG, Aygun B, Boerwinkle E, Gibbs RA, Ware RE. FOXO3 Variants Are Associated With Lower Fetal Hemoglobin Levels In Children With Sickle Cell Disease Blood. 122: 778-778. DOI: 10.1182/Blood.V122.21.778.778 |
0.362 |
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2013 |
Lotta LA, Fornili M, Ambrogi F, Mancuso ME, Santagostino E, Garagiola I, Seregni S, Muzny DM, Metcalf G, Gibbs RA, Biganzoli E, Peyvandi F. Rare Genetic Variants Of The Protein-Coding Area Of The Genome and The Risk Of Inhibitor Development: An Exome-Sequencing Study Of 28 Patients With Severe Hemophilia A Blood. 122: 571-571. DOI: 10.1182/Blood.V122.21.571.571 |
0.383 |
|
2013 |
Wang L, Yamaguchi S, Terashima K, Burstein MD, Sun JM, Suzuki T, Nishikawa R, Nakamura H, Natsume A, Terasaka S, Ng H, Dauser RC, Whitehead WE, Adekunle AM, Muzny DM, ... Gibbs RA, et al. Abstract LB-355: Whole-exome sequencing of intracranial germ cell tumors reveals frequent mutations in KIT and RAS pathways and histone demethylases. Cancer Research. 73. DOI: 10.1158/1538-7445.Am2013-Lb-355 |
0.321 |
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2013 |
Peddibhotla S, Powell B, Patel MP, Rao PH, Wheeler DA, Gibbs RA, Plon SE. Abstract 3814: Exome sequencing for identification of causative genes for mosaic variegated aneuploidy. Cancer Research. 73: 3814-3814. DOI: 10.1158/1538-7445.Am2013-3814 |
0.355 |
|
2012 |
English AC, Richards S, Han Y, Wang M, Vee V, Qu J, Qin X, Muzny DM, Reid JG, Worley KC, Gibbs RA. Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology. Plos One. 7: e47768. PMID 23185243 DOI: 10.1371/Journal.Pone.0047768 |
0.334 |
|
2012 |
Biankin AV, Waddell N, Kassahn KS, Gingras MC, Muthuswamy LB, Johns AL, Miller DK, Wilson PJ, Patch AM, Wu J, Chang DK, Cowley MJ, Gardiner BB, Song S, Harliwong I, ... ... Gibbs RA, et al. Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature. 491: 399-405. PMID 23103869 DOI: 10.1038/Nature11547 |
0.342 |
|
2012 |
Deng Z, Huang W, Bakkalbasi E, Brown NG, Adamski CJ, Rice K, Muzny D, Gibbs RA, Palzkill T. Deep sequencing of systematic combinatorial libraries reveals β-lactamase sequence constraints at high resolution Journal of Molecular Biology. 424: 150-167. PMID 23017428 DOI: 10.1016/J.Jmb.2012.09.014 |
0.336 |
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2012 |
McIntyre JC, Davis EE, Joiner A, Williams CL, Tsai IC, Jenkins PM, McEwen DP, Zhang L, Escobado J, Thomas S, Szymanska K, Johnson CA, Beales PL, Green ED, Mullikin JC, ... ... Gibbs RA, et al. Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nature Medicine. 18: 1423-8. PMID 22941275 DOI: 10.1038/Nm.2860 |
0.301 |
|
2012 |
Campeau PM, Lu JT, Sule G, Jiang MM, Bae Y, Madan S, Högler W, Shaw NJ, Mumm S, Gibbs RA, Whyte MP, Lee BH. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Human Molecular Genetics. 21: 4904-9. PMID 22875837 DOI: 10.1093/Hmg/Dds326 |
0.332 |
|
2012 |
Muzny DM, Bainbridge MN, Chang K, Dinh HH, Drummond JA, Fowler G, Kovar CL, Lewis LR, Morgan MB, Newsham IF, Reid JG, Santibanez J, Shinbrot E, Trevino LR, Wu YQ, ... ... Gibbs RA, et al. Comprehensive molecular characterization of human colon and rectal cancer Nature. 487: 330-337. PMID 22810696 DOI: 10.1038/Nature11252 |
0.366 |
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2012 |
Bergman JA, Hahne K, Song J, Hrycyna CA, Gibbs RA. S-Farnesyl-Thiopropionic Acid (FTPA) Triazoles as Potent Inhibitors of Isoprenylcysteine Carboxyl Methyltransferase. Acs Medicinal Chemistry Letters. 3: 15-19. PMID 22754607 DOI: 10.1021/Ml200106D |
0.544 |
|
2012 |
Lee E, Iskow R, Yang L, Gokcumen O, Haseley P, Luquette LJ, Lohr JG, Harris CC, Ding L, Wilson RK, Wheeler DA, Gibbs RA, Kucherlapati R, Lee C, Kharchenko PV, et al. Landscape of somatic retrotransposition in human cancers. Science (New York, N.Y.). 337: 967-71. PMID 22745252 DOI: 10.1126/Science.1222077 |
0.344 |
|
2012 |
Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Human Mutation. 33: 1520-5. PMID 22715153 DOI: 10.1002/Humu.22141 |
0.304 |
|
2012 |
Tu Q, Cameron RA, Worley KC, Gibbs RA, Davidson EH. Gene structure in the sea urchin Strongylocentrotus purpuratus based on transcriptome analysis. Genome Research. 22: 2079-87. PMID 22709795 DOI: 10.1101/Gr.139170.112 |
0.341 |
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2012 |
Hahne K, Vervacke JS, Shrestha L, Donelson JL, Gibbs RA, Distefano MD, Hrycyna CA. Evaluation of substrate and inhibitor binding to yeast and human isoprenylcysteine carboxyl methyltransferases (Icmts) using biotinylated benzophenone-containing photoaffinity probes. Biochemical and Biophysical Research Communications. 423: 98-103. PMID 22634004 DOI: 10.1016/J.Bbrc.2012.05.089 |
0.316 |
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2012 |
Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA. The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. American Journal of Medical Genetics. Part A. 158: 1523-5. PMID 22628075 DOI: 10.1002/Ajmg.A.35470 |
0.372 |
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2012 |
Ober U, Ayroles JF, Stone EA, Richards S, Zhu D, Gibbs RA, Stricker C, Gianola D, Schlather M, Mackay TF, Simianer H. Using whole-genome sequence data to predict quantitative trait phenotypes in Drosophila melanogaster. Plos Genetics. 8: e1002685. PMID 22570636 DOI: 10.1371/Journal.Pgen.1002685 |
0.314 |
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2012 |
Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, ... ... Gibbs RA, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 485: 242-5. PMID 22495311 DOI: 10.1038/Nature11011 |
0.337 |
|
2012 |
Fondon JW, Martin A, Richards S, Gibbs RA, Mittelman D. Analysis of microsatellite variation in Drosophila melanogaster with population-scale genome sequencing Plos One. 7. PMID 22427938 DOI: 10.1371/Journal.Pone.0033036 |
0.396 |
|
2012 |
Gibbs RA, Rogers J. Genomics: Gorilla gorilla gorilla Nature. 483: 164-165. PMID 22398552 DOI: 10.1038/483164A |
0.309 |
|
2012 |
Lotta LA, Wang M, Yu J, Martinelli I, Yu F, Passamonti SM, Consonni D, Pappalardo E, Menegatti M, Scherer SE, Lewis LL, Akbar H, Wu Y, Bainbridge MN, Muzny DM, ... ... Gibbs RA, et al. Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes. Bmc Medical Genomics. 5: 7. PMID 22353194 DOI: 10.1186/1755-8794-5-7 |
0.364 |
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2012 |
MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang ZD, Conrad DF, Lunter G, Zheng H, ... ... Gibbs RA, et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science (New York, N.Y.). 335: 823-8. PMID 22344438 DOI: 10.1126/Science.1215040 |
0.393 |
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2012 |
Mackay TF, Richards S, Stone EA, Barbadilla A, Ayroles JF, Zhu D, Casillas S, Han Y, Magwire MM, Cridland JM, Richardson MF, Anholt RR, Barrón M, Bess C, Blankenburg KP, ... ... Gibbs RA, et al. The Drosophila melanogaster Genetic Reference Panel. Nature. 482: 173-8. PMID 22318601 DOI: 10.1038/Nature10811 |
0.328 |
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2012 |
Cejková D, Zobaníková M, Chen L, Pospíšilová P, Strouhal M, Qin X, Mikalová L, Norris SJ, Muzny DM, Gibbs RA, Fulton LL, Sodergren E, Weinstock GM, Smajs D. Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence. Plos Neglected Tropical Diseases. 6: e1471. PMID 22292095 DOI: 10.1371/Journal.Pntd.0001471 |
0.309 |
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2012 |
Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, ... ... Gibbs RA, et al. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. American Journal of Human Genetics. 90: 282-9. PMID 22265014 DOI: 10.1016/J.Ajhg.2011.11.023 |
0.318 |
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2012 |
Gonzaga-Jauregui C, Lupski JR, Gibbs RA. Human genome sequencing in health and disease Annual Review of Medicine. 63: 35-61. PMID 22248320 DOI: 10.1146/Annurev-Med-051010-162644 |
0.369 |
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2012 |
Challis D, Yu J, Evani US, Jackson AR, Paithankar S, Coarfa C, Milosavljevic A, Gibbs RA, Yu F. An integrative variant analysis suite for whole exome next-generation sequencing data Bmc Bioinformatics. 13. PMID 22239737 DOI: 10.1186/1471-2105-13-8 |
0.367 |
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2012 |
Wang Y, Zhang Y, Yang J, Ni X, Liu S, Li Z, Hodges SE, Fisher WE, Brunicardi FC, Gibbs RA, Gingras MC, Li M. Genomic sequencing of key genes in mouse pancreatic cancer cells. Current Molecular Medicine. 12: 331-41. PMID 22208613 DOI: 10.2174/156652412799218868 |
0.344 |
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2012 |
Majmudar JD, Hodges-Loaiza HB, Hahne K, Donelson JL, Song J, Shrestha L, Harrison ML, Hrycyna CA, Gibbs RA. Amide-modified prenylcysteine based Icmt inhibitors: Structure-activity relationships, kinetic analysis and cellular characterization. Bioorganic & Medicinal Chemistry. 20: 283-95. PMID 22142613 DOI: 10.1016/J.Bmc.2011.10.087 |
0.553 |
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2012 |
Sexton DP, Dahdouli M, Bainbridge M, Challis D, Yu F, Boerwinkle E, Reid JG, Gibbs R. Mercury: next generation sequencing data analysis and annotation pipeline F1000research. 3. DOI: 10.7490/F1000Research.1092102.1 |
0.31 |
|
2012 |
Lu JT, Wang Y, Gibbs RA, Yu F. Characterizing linkage disequilibrium and evaluating imputation power of human genomic insertion-deletion polymorphisms Genome Biology. 13. DOI: 10.1186/Gb-2012-13-2-R15 |
0.354 |
|
2012 |
Lotta LA, Tuana G, Yu J, Martinelli I, Wang M, Yu F, Passamonti SM, Pappalardo E, IV WH, Muzny DM, Rosendaal FR, Gibbs RA, Peyvandi F. Rare Coding Single Nucleotide Variants of ADAMTS13 Are Associated with Deep Vein Thrombosis in a Next-Generation Sequencing Association Study Blood. 120: 107-107. DOI: 10.1182/Blood.V120.21.107.107 |
0.357 |
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2012 |
Biankin AV, McPherson JD, Gibbs RA. Abstract IA3: Genomic analysis reveals roles for chromatin modification and axon guidance in pancreatic cancer. Cancer Research. 72. DOI: 10.1158/1538-7445.Panca2012-Ia3 |
0.35 |
|
2012 |
Gingras M, Wheeler DA, Muzny DM, Hodges SE, Fisher WE, Gibbs RA. Abstract A14: Can mutation profile be of help to define the cellular origin of ampullary adenocarcinoma? Cancer Research. 72. DOI: 10.1158/1538-7445.Panca2012-A14 |
0.314 |
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2012 |
Saliba J, Trevino LR, Meng Q, Zabriskie R, Powell B, Hicks S, Kimmel M, Cheung H, Muzny DM, Reid JG, Wheeler D, Gibbs RA, Plon SE. Abstract 5113: Functional analysis of genomic variants identified through whole exome sequencing for susceptibility to lymphocytic leukemia Cancer Research. 72: 5113-5113. DOI: 10.1158/1538-7445.Am2012-5113 |
0.371 |
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2012 |
Czerniak BA, Majewski T, Bondaruk J, Zhang S, Lee S, Baggerly K, Dinney C, Grossman HB, Wu X, Issa J, Zhang W, Gibbs R, Scherer SE. Abstract 5066: Genome sequence and epigenome map of bladder cancer development from occult field effects Cancer Research. 72: 5066-5066. DOI: 10.1158/1538-7445.Am2012-5066 |
0.331 |
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2012 |
Majmudar JD, Morrison-Logue A, Song J, Hrycyna CA, Gibbs RA. Identification of a novel nanomolar inhibitor of hIcmt via a carboxylate replacement approach Medchemcomm. 3: 1125-1137. DOI: 10.1039/C2Md20108A |
0.562 |
|
2011 |
Xi R, Hadjipanayis AG, Luquette LJ, Kim TM, Lee E, Zhang J, Johnson MD, Muzny DM, Wheeler DA, Gibbs RA, Kucherlapati R, Park PJ. Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. Proceedings of the National Academy of Sciences of the United States of America. 108: E1128-36. PMID 22065754 DOI: 10.1073/Pnas.1110574108 |
0.359 |
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2011 |
Lindblad-Toh K, Garber M, Zuk O, Lin MF, Parker BJ, Washietl S, Kheradpour P, Ernst J, Jordan G, Mauceli E, Ward LD, Lowe CB, Holloway AK, Clamp M, Gnerre S, ... ... Gibbs RA, et al. A high-resolution map of human evolutionary constraint using 29 mammals. Nature. 478: 476-82. PMID 21993624 DOI: 10.1038/Nature10530 |
0.354 |
|
2011 |
Lupski JR, Belmont JW, Boerwinkle E, Gibbs RA. Clan genomics and the complex architecture of human disease. Cell. 147: 32-43. PMID 21962505 DOI: 10.1016/J.Cell.2011.09.008 |
0.389 |
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2011 |
Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, ... ... Gibbs R, et al. The functional spectrum of low-frequency coding variation. Genome Biology. 12: R84. PMID 21917140 DOI: 10.1186/Gb-2011-12-9-R84 |
0.332 |
|
2011 |
Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, Gore A, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Zhang K, Muzny D, Gibbs RA, et al. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Human Mutation. 32: 1450-9. PMID 21901789 DOI: 10.1002/Humu.21587 |
0.346 |
|
2011 |
Renfree MB, Papenfuss AT, Deakin JE, Lindsay J, Heider T, Belov K, Rens W, Waters PD, Pharo EA, Shaw G, Wong ES, Lefèvre CM, Nicholas KR, Kuroki Y, Wakefield MJ, ... ... Gibbs RA, et al. Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development. Genome Biology. 12: R81. PMID 21854559 DOI: 10.1186/Gb-2011-12-8-R81 |
0.37 |
|
2011 |
Murdock DR, Clark GD, Bainbridge MN, Newsham I, Wu YQ, Muzny DM, Cheung SW, Gibbs RA, Ramocki MB. Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. American Journal of Medical Genetics. Part A. 155: 2071-7. PMID 21834044 DOI: 10.1002/Ajmg.A.34165 |
0.356 |
|
2011 |
Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R, White L, Miki R, Cohn DH, Crawford S, Travers R, et al. Mutations in SERPINF1 cause osteogenesis imperfecta type VI Journal of Bone and Mineral Research. 26: 2798-2803. PMID 21826736 DOI: 10.1002/Jbmr.487 |
0.328 |
|
2011 |
Bainbridge MN, Wang M, Wu Y, Newsham I, Muzny DM, Jefferies JL, Albert TJ, Burgess DL, Gibbs RA. Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biology. 12: R68. PMID 21787409 DOI: 10.1186/Gb-2011-12-7-R68 |
0.349 |
|
2011 |
Gravel S, Henn BM, Gutenkunst RN, Indap AR, Marth GT, Clark AG, Yu F, Gibbs RA, Bustamante CD. Demographic history and rare allele sharing among human populations. Proceedings of the National Academy of Sciences of the United States of America. 108: 11983-8. PMID 21730125 DOI: 10.1073/Pnas.1019276108 |
0.326 |
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2011 |
Bell D, Berchuck A, Birrer M, Chien J, Cramer DW, Dao F, Dhir R, Disaia P, Gabra H, Glenn P, Godwin AK, Gross J, Hartmann L, Huang M, Huntsman DG, ... ... Gibbs RA, et al. Integrated genomic analyses of ovarian carcinoma Nature. 474: 609-615. PMID 21720365 DOI: 10.1038/Nature10166 |
0.318 |
|
2011 |
Klassen T, Davis C, Goldman A, Burgess D, Chen T, Wheeler D, McPherson J, Bourquin T, Lewis L, Villasana D, Morgan M, Muzny D, Gibbs R, Noebels J. Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell. 145: 1036-48. PMID 21703448 DOI: 10.1016/J.Cell.2011.05.025 |
0.32 |
|
2011 |
Bainbridge MN, Wiszniewski W, Murdock DR, Friedman J, Gonzaga-Jauregui C, Newsham I, Reid JG, Fink JK, Morgan MB, Gingras MC, Muzny DM, Hoang LD, Yousaf S, Lupski JR, Gibbs RA. Whole-genome sequencing for optimized patient management. Science Translational Medicine. 3: 87re3. PMID 21677200 DOI: 10.1126/Scitranslmed.3002243 |
0.374 |
|
2011 |
Fawcett GL, Raveendran M, Deiros DR, Chen D, Yu F, Harris RA, Ren Y, Muzny DM, Reid JG, Wheeler DA, Worley KC, Shelton SE, Kalin NH, Milosavljevic A, Gibbs R, et al. Characterization of single-nucleotide variation in Indian-origin rhesus macaques (Macaca mulatta). Bmc Genomics. 12: 311. PMID 21668978 DOI: 10.1186/1471-2164-12-311 |
0.346 |
|
2011 |
Šmajs D, Zobaníková M, Strouhal M, Čejková D, Dugan-Rocha S, Pospíšilová P, Norris SJ, Albert T, Qin X, Hallsworth-Pepin K, Buhay C, Muzny DM, Chen L, Gibbs RA, Weinstock GM. Complete genome sequence of Treponema paraluiscuniculi, strain Cuniculi A: the loss of infectivity to humans is associated with genome decay. Plos One. 6: e20415. PMID 21655244 DOI: 10.1371/Journal.Pone.0020415 |
0.357 |
|
2011 |
Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Human Molecular Genetics. 20: 3366-75. PMID 21624971 DOI: 10.1093/Hmg/Ddr243 |
0.325 |
|
2011 |
Yilmaz P, Kottmann R, Field D, Knight R, Cole JR, Amaral-Zettler L, Gilbert JA, Karsch-Mizrachi I, Johnston A, Cochrane G, Vaughan R, Hunter C, Park J, Morrison N, Rocca-Serra P, ... ... Gibbs RA, et al. Minimum information about a marker gene sequence (MIMARKS) and minimum information about any (x) sequence (MIxS) specifications. Nature Biotechnology. 29: 415-20. PMID 21552244 DOI: 10.1038/Nbt.1823 |
0.366 |
|
2011 |
Brunicardi FC, Gibbs RA, Wheeler DA, Nemunaitis J, Fisher W, Goss J, Chen C. Overview of the development of personalized genomic medicine and surgery. World Journal of Surgery. 35: 1693-9. PMID 21424870 DOI: 10.1007/S00268-011-1056-0 |
0.302 |
|
2011 |
Plon SE, Wheeler DA, Strong LC, Tomlinson GE, Pirics M, Meng Q, Cheung HC, Begin PR, Muzny DM, Lewis L, Biegel JA, Gibbs RA. Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genetics. 204: 19-25. PMID 21356188 DOI: 10.1016/J.Cancergencyto.2010.11.001 |
0.329 |
|
2011 |
Gibbs RA. Genome-sequencing anniversary. Bringing genomics and genetics back together Science (New York, N.Y.). 331: 548. PMID 21292968 DOI: 10.1126/Science.1203017 |
0.38 |
|
2011 |
Locke DP, Hillier LW, Warren WC, Worley KC, Nazareth LV, Muzny DM, Yang SP, Wang Z, Chinwalla AT, Minx P, Mitreva M, Cook L, Delehaunty KD, Fronick C, Schmidt H, ... ... Gibbs RA, et al. Comparative and demographic analysis of orang-utan genomes. Nature. 469: 529-33. PMID 21270892 DOI: 10.1038/Nature09687 |
0.353 |
|
2011 |
Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, ... ... Gibbs RA, et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature Genetics. 43: 189-96. PMID 21258341 DOI: 10.1038/Ng.756 |
0.34 |
|
2011 |
Nguyen NT, Cotton RT, Harring TR, Guiteau JJ, Gingras MC, Wheeler DA, O'Mahony CA, Gibbs RA, Brunicardi FC, Goss JA. A primer on a hepatocellular carcinoma bioresource bank using the cancer genome atlas guidelines: practical issues and pitfalls. World Journal of Surgery. 35: 1732-7. PMID 21221581 DOI: 10.1007/S00268-010-0953-Y |
0.308 |
|
2011 |
Daines B, Wang H, Wang L, Li Y, Han Y, Emmert D, Gelbart W, Wang X, Li W, Gibbs R, Chen R. The Drosophila melanogaster transcriptome by paired-end RNA sequencing. Genome Research. 21: 315-24. PMID 21177959 DOI: 10.1101/Gr.107854.110 |
0.315 |
|
2011 |
Lotta LA, Wang M, Yu J, Yu F, Martinelli I, Passamonti S, Pappalardo E, Menegatti M, Lewis LL, Hale W, Muzny DM, Mannucci PM, Gibbs RA, Peyvandi F. Identification of DEEP Vein Thrombosis GENETIC RISK Variants by NEXT GENERATION Sequencing of Hemostatic Genes Blood. 118: 710-710. DOI: 10.1182/Blood.V118.21.710.710 |
0.405 |
|
2011 |
Lotta LA, Wu HM, Scully MA, Noris M, Veyradier A, Mackie IJ, Remuzzi G, Coppo P, Liesner R, Donadelli R, Loirat C, Gibbs RA, Horne A, Yang S, Palla R, et al. Residual Plasmatic Activity of ADAMTS13 in Congenital Thrombotic Thrombocytopenic Purpura Correlates with Disease Phenotype Blood. 118: 2219-2219. DOI: 10.1182/Blood.V118.21.2219.2219 |
0.303 |
|
2010 |
Degnan PH, Leonardo TE, Cass BN, Hurwitz B, Stern D, Gibbs RA, Richards S, Moran NA. Dynamics of genome evolution in facultative symbionts of aphids. Environmental Microbiology. 12: 2060-9. PMID 21966902 DOI: 10.1111/J.1462-2920.2009.02085.X |
0.366 |
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2010 |
Coventry A, Bull-Otterson LM, Liu X, Clark AG, Maxwell TJ, Crosby J, Hixson JE, Rea TJ, Muzny DM, Lewis LR, Wheeler DA, Sabo A, Lusk C, Weiss KG, Akbar H, ... ... Gibbs R, et al. Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nature Communications. 1: 131. PMID 21119644 DOI: 10.1038/Ncomms1130 |
0.348 |
|
2010 |
Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. A map of human genome variation from population-scale sequencing. Nature. 467: 1061-73. PMID 20981092 DOI: 10.1038/Nature09534 |
0.407 |
|
2010 |
Altshuler DM, Gibbs RA, Peltonen L, Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, Yu F, Peltonen L, Dermitzakis E, Bonnen PE, Altshuler DM, Gibbs RA, ... ... Gibbs RA, ... ... Gibbs RA, et al. Integrating common and rare genetic variation in diverse human populations. Nature. 467: 52-8. PMID 20811451 DOI: 10.1038/Nature09298 |
0.335 |
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2010 |
Bainbridge MN, Wang M, Burgess DL, Kovar C, Rodesch MJ, D'Ascenzo M, Kitzman J, Wu YQ, Newsham I, Richmond TA, Jeddeloh JA, Muzny D, Albert TJ, Gibbs RA. Whole exome capture in solution with 3 Gbp of data. Genome Biology. 11: R62. PMID 20565776 DOI: 10.1186/Gb-2010-11-6-R62 |
0.35 |
|
2010 |
Nelson KE, Weinstock GM, Highlander SK, Worley KC, Creasy HH, Wortman JR, Rusch DB, Mitreva M, Sodergren E, Chinwalla AT, Feldgarden M, Gevers D, Haas BJ, Madupu R, ... ... Gibbs RA, et al. A catalog of reference genomes from the human microbiome. Science (New York, N.Y.). 328: 994-9. PMID 20489017 DOI: 10.1126/Science.1183605 |
0.375 |
|
2010 |
Shigenobu S, Richards S, Cree AG, Morioka M, Fukatsu T, Kudo T, Miyagishima S, Gibbs RA, Stern DL, Nakabachi A. A full-length cDNA resource for the pea aphid, Acyrthosiphon pisum Insect Molecular Biology. 19: 23-31. PMID 20482637 DOI: 10.1111/J.1365-2583.2009.00946.X |
0.372 |
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2010 |
Wang H, Chattopadhyay A, Li Z, Daines B, Li Y, Gao C, Gibbs R, Zhang K, Chen R. Rapid identification of heterozygous mutations in Drosophila melanogaster using genomic capture sequencing. Genome Research. 20: 981-8. PMID 20472684 DOI: 10.1101/Gr.102921.109 |
0.375 |
|
2010 |
Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, ... ... Gibbs RA, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. The New England Journal of Medicine. 362: 1181-91. PMID 20220177 DOI: 10.1056/Nejmoa0908094 |
0.403 |
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2010 |
Schuster SC, Miller W, Ratan A, Tomsho LP, Giardine B, Kasson LR, Harris RS, Petersen DC, Zhao F, Qi J, Alkan C, Kidd JM, Sun Y, Drautz DI, Bouffard P, ... ... Gibbs RA, et al. Complete Khoisan and Bantu genomes from southern Africa. Nature. 463: 943-7. PMID 20164927 DOI: 10.1038/Nature08795 |
0.38 |
|
2010 |
Worley KC, Gibbs RA. Genetics: Decoding a national treasure. Nature. 463: 303-4. PMID 20090741 DOI: 10.1038/463303A |
0.356 |
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2010 |
Werren JH, Richards S, Desjardins CA, Niehuis O, Gadau J, Colbourne JK, Werren JH, Richards S, Desjardins CA, Niehuis O, Gadau J, Colbourne JK, Beukeboom LW, Desplan C, ... ... Gibbs RA, et al. Functional and evolutionary insights from the genomes of three parasitoid Nasonia species. Science (New York, N.Y.). 327: 343-8. PMID 20075255 DOI: 10.1126/Science.1178028 |
0.363 |
|
2010 |
Shen Y, Wan Z, Coarfa C, Drabek R, Chen L, Ostrowski EA, Liu Y, Weinstock GM, Wheeler DA, Gibbs RA, Yu F. A SNP discovery method to assess variant allele probability from next-generation resequencing data. Genome Research. 20: 273-80. PMID 20019143 DOI: 10.1101/Gr.096388.109 |
0.308 |
|
2010 |
Krzysiak AJ, Aditya AV, Hougland JL, Fierke CA, Gibbs RA. Synthesis and screening of a CaaL peptide library versus FTase reveals a surprising number of substrates. Bioorganic & Medicinal Chemistry Letters. 20: 767-70. PMID 20005705 DOI: 10.1016/J.Bmcl.2009.11.011 |
0.777 |
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2010 |
Yilmaz P, Kottmann R, Field D, Knight R, Cole JR, Amaral-Zettler L, Gilbert JA, Karsch-Mizrachi I, Johnston A, Cochrane G, Vaughan R, Hunter C, Park J, Morrison N, Rocca-Serra P, ... ... Gibbs RA, et al. The “Minimum Information about an ENvironmental Sequence” (MIENS) specification Nature Precedings. 5: 1-1. DOI: 10.1038/Npre.2010.5252.1 |
0.332 |
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2010 |
JANDA KD, ASHLEY JA, JONES TM, MCLEOD DA, SCHLOEDER DM, WEINHOUSE MI, LERNER RA, GIBBS RA, BENKOVIC PA, HILHORST R, BENKOVIC SJ. ChemInform Abstract: Catalytic Antibodies with Acyl-Transfer Capabilities: Mechanistic and Kinetic Investigations. Cheminform. 22: no-no. DOI: 10.1002/chin.199115055 |
0.315 |
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2009 |
Chain PS, Grafham DV, Fulton RS, Fitzgerald MG, Hostetler J, Muzny D, Ali J, Birren B, Bruce DC, Buhay C, Cole JR, Ding Y, Dugan S, Field D, Garrity GM, ... Gibbs R, et al. Genomics. Genome project standards in a new era of sequencing. Science (New York, N.Y.). 326: 236-7. PMID 19815760 DOI: 10.1126/Science.1180614 |
0.351 |
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2009 |
Temple G, Gerhard DS, Rasooly R, Feingold EA, Good PJ, Robinson C, Mandich A, Derge JG, Lewis J, Shoaf D, Collins FS, Jang W, Wagner L, Shenmen CM, ... ... Gibbs RA, et al. The completion of the Mammalian Gene Collection (MGC). Genome Research. 19: 2324-33. PMID 19767417 DOI: 10.1101/Gr.095976.109 |
0.341 |
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2009 |
Alkan C, Kidd JM, Marques-Bonet T, Aksay G, Antonacci F, Hormozdiari F, Kitzman JO, Baker C, Malig M, Mutlu O, Sahinalp SC, Gibbs RA, Eichler EE. Personalized copy number and segmental duplication maps using next-generation sequencing. Nature Genetics. 41: 1061-7. PMID 19718026 DOI: 10.1038/Ng.437 |
0.354 |
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2009 |
Sillanpää J, Nallapareddy SR, Qin X, Singh KV, Muzny DM, Kovar CL, Nazareth LV, Gibbs RA, Ferraro MJ, Steckelberg JM, Weinstock GM, Murray BE. A collagen-binding adhesin, Acb, and ten other putative MSCRAMM and pilus family proteins of Streptococcus gallolyticus subsp. gallolyticus (Streptococcus bovis Group, biotype I). Journal of Bacteriology. 191: 6643-53. PMID 19717590 DOI: 10.1128/Jb.00909-09 |
0.333 |
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2009 |
Daines B, Wang H, Li Y, Han Y, Gibbs R, Chen R. High-throughput multiplex sequencing to discover copy number variants in Drosophila. Genetics. 182: 935-41. PMID 19528327 DOI: 10.1534/Genetics.109.103218 |
0.371 |
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2009 |
Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, ... ... Gibbs RA, et al. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nature Genetics. 41: 739-45. PMID 19430481 DOI: 10.1038/Ng.366 |
0.33 |
|
2009 |
Gibbs RA, Taylor JF, Van Tassell CP, Barendse W, Eversole KA, Gill CA, Green RD, Hamernik DL, Kappes SM, Lien S, Matukumalli LK, McEwan JC, Nazareth LV, Schnabel RD, et al. Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds. Science (New York, N.Y.). 324: 528-32. PMID 19390050 DOI: 10.1126/Science.1167936 |
0.341 |
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2009 |
Elsik CG, Tellam RL, Worley KC, Gibbs RA, Muzny DM, Weinstock GM, Adelson DL, Eichler EE, Elnitski L, Guigó R, Hamernik DL, Kappes SM, Lewin HA, Lynn DJ, et al. The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (New York, N.Y.). 324: 522-8. PMID 19390049 DOI: 10.1126/Science.1169588 |
0.623 |
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2009 |
Donelson JL, Hodges-Loaiza HB, Henriksen BS, Hrycyna CA, Gibbs RA. Solid-phase synthesis of prenylcysteine analogs. The Journal of Organic Chemistry. 74: 2975-81. PMID 19320430 DOI: 10.1021/Jo8021692 |
0.704 |
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2009 |
Petrosino JF, Highlander S, Luna RA, Gibbs RA, Versalovic J. Metagenomic pyrosequencing and microbial identification Clinical Chemistry. 55: 856-866. PMID 19264858 DOI: 10.1373/Clinchem.2008.107565 |
0.371 |
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2009 |
Vakoc CR, Wen YY, Gibbs RA, Johnstone CN, Rustgi AK, Blobel GA. Low frequency of MLL3 mutations in colorectal carcinoma. Cancer Genetics and Cytogenetics. 189: 140-1. PMID 19215798 DOI: 10.1016/J.Cancergencyto.2008.10.014 |
0.349 |
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2009 |
Hougland JL, Lamphear CL, Scott SA, Gibbs RA, Fierke CA. Context-dependent substrate recognition by protein farnesyltransferase. Biochemistry. 48: 1691-701. PMID 19199818 DOI: 10.1021/Bi801710G |
0.547 |
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2009 |
Maheshwari M, Shi J, Badner JA, Skol A, Willour VL, Muzny DM, Wheeler DA, Gerald FR, Detera-Wadleigh S, McMahon FJ, Potash JB, Gershon ES, Liu C, Gibbs RA. Common and rare variants of DAOA in bipolar disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 150: 960-6. PMID 19194963 DOI: 10.1002/Ajmg.B.30925 |
0.318 |
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2009 |
Voidonikolas G, Gingras MC, Hodges S, McGuire AL, Chen C, Gibbs RA, Brunicardi FC, Fisher WE. Developing a tissue resource to characterize the genome of pancreatic cancer. World Journal of Surgery. 33: 723-31. PMID 19137368 DOI: 10.1007/S00268-008-9877-1 |
0.331 |
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2009 |
Voidonikolas G, Kreml SS, Chen C, Fisher WE, Brunicardi FC, Gibbs RA, Gingras MC. Basic principles and technologies for deciphering the genetic map of cancer. World Journal of Surgery. 33: 615-29. PMID 19115029 DOI: 10.1007/S00268-008-9851-Y |
0.324 |
|
2009 |
Rodriguez JA, Guiteau JJ, Nazareth L, Reid JG, Goss JA, Gibbs RA, Gingras MC. Sequencing the full-length of the phosphatase and tensin homolog (PTEN) gene in hepatocellular carcinoma (HCC) using the 454 GS20 and Illumina GA DNA sequencing platforms. World Journal of Surgery. 33: 647-52. PMID 19082655 DOI: 10.1007/S00268-008-9852-X |
0.345 |
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2009 |
Hampton OA, Den Hollander P, Miller CA, Delgado DA, Li J, Coarfa C, Harris RA, Richards S, Scherer SE, Muzny DM, Gibbs RA, Lee AV, Milosavljevic A. A sequence-level map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer genome. Genome Research. 19: 167-77. PMID 19056696 DOI: 10.1101/Gr.080259.108 |
0.335 |
|
2009 |
Li Y, Wang H, Peng J, Gibbs RA, Lewis RA, Lupski JR, Mardon G, Chen R. Mutation survey of known LCA genes and loci in the Saudi Arabian population. Investigative Ophthalmology & Visual Science. 50: 1336-43. PMID 18936139 DOI: 10.1167/Iovs.08-2589 |
0.327 |
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2009 |
Gingras M, Liu S, Zhou G, Li M, Catania R, Fisher W, Gibbs R, Brunicardi F. 50: The Identification of Numerous Somatic and Germline Mutations of PDX-1 in Pancreatic Cancer Using Genomic Analysis Journal of Surgical Research. 151: 193-194. DOI: 10.1016/J.Jss.2008.11.060 |
0.318 |
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2008 |
Ding L, Getz G, Wheeler DA, Mardis ER, McLellan MD, Cibulskis K, Sougnez C, Greulich H, Muzny DM, Morgan MB, Fulton L, Fulton RS, Zhang Q, Wendl MC, Lawrence MS, ... ... Gibbs RA, et al. Somatic mutations affect key pathways in lung adenocarcinoma. Nature. 455: 1069-75. PMID 18948947 DOI: 10.1038/Nature07423 |
0.331 |
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2008 |
McLendon R, Friedman A, Bigner D, Van Meir EG, Brat DJ, Mastrogianakis GM, Olson JJ, Mikkelsen T, Lehman N, Aldape K, Yung WKA, Bogler O, Weinstein JN, VandenBerg S, Berger M, ... ... Gibbs RA, et al. Comprehensive genomic characterization defines human glioblastoma genes and core pathways Nature. 455: 1061-1068. PMID 18772890 DOI: 10.1038/Nature07385 |
0.353 |
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2008 |
Srivatsan A, Han Y, Peng J, Tehranchi AK, Gibbs R, Wang JD, Chen R. High-precision, whole-genome sequencing of laboratory strains facilitates genetic studies Plos Genetics. 4. PMID 18670626 DOI: 10.1371/Journal.Pgen.1000139 |
0.374 |
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2008 |
Twigger SN, Pruitt KD, Fernández-Suárez XM, Karolchik D, Worley KC, Maglott DR, Brown G, Weinstock G, Gibbs RA, Kent J, Birney E, Jacob HJ. What everybody should know about the rat genome and its online resources. Nature Genetics. 40: 523-7. PMID 18443589 DOI: 10.1038/Ng0508-523 |
0.308 |
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2008 |
Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, ... ... Gibbs RA, et al. The complete genome of an individual by massively parallel DNA sequencing. Nature. 452: 872-6. PMID 18421352 DOI: 10.1038/Nature06884 |
0.383 |
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2008 |
Richards S, Gibbs RA, Weinstock GM, Brown SJ, Denell R, Beeman RW, Gibbs R, Beeman RW, Brown SJ, Bucher G, Friedrich M, Grimmelikhuijzen CJ, Klingler M, Lorenzen M, ... ... Gibbs RA, ... ... Gibbs RA, et al. The genome of the model beetle and pest Tribolium castaneum. Nature. 452: 949-55. PMID 18362917 DOI: 10.1038/Nature06784 |
0.339 |
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2008 |
Park Y, Aikins J, Wang LJ, Beeman RW, Oppert B, Lord JC, Brown SJ, Lorenzen MD, Richards S, Weinstock GM, Gibbs RA. Analysis of transcriptome data in the red flour beetle, Tribolium castaneum. Insect Biochemistry and Molecular Biology. 38: 380-6. PMID 18342244 DOI: 10.1016/J.Ibmb.2007.09.008 |
0.362 |
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2008 |
Durfee T, Nelson R, Baldwin S, Plunkett G, Burland V, Mau B, Petrosino JF, Qin X, Muzny DM, Ayele M, Gibbs RA, Csörgo B, Pósfai G, Weinstock GM, Blattner FR. The complete genome sequence of Escherichia coli DH10B: Insights into the biology of a laboratory workhorse Journal of Bacteriology. 190: 2597-2606. PMID 18245285 DOI: 10.1128/Jb.01695-07 |
0.382 |
|
2008 |
Rawat DS, Krzysiak AJ, Gibbs RA. Synthesis and biochemical evaluation of 3,7-disubstituted farnesyl diphosphate analogues. The Journal of Organic Chemistry. 73: 1881-7. PMID 18225915 DOI: 10.1021/Jo701725B |
0.58 |
|
2008 |
Worley KC, Weinstock GM, Gibbs RA. Rats in the genomic era Physiological Genomics. 32: 273-282. PMID 18029439 DOI: 10.1152/Physiolgenomics.00208.2007 |
0.31 |
|
2007 |
Miller W, Rosenbloom K, Hardison RC, Hou M, Taylor J, Raney B, Burhans R, King DC, Baertsch R, Blankenberg D, Kosakovsky Pond SL, Nekrutenko A, Giardine B, Harris RS, Tyekucheva S, ... ... Gibbs RA, et al. 28-way vertebrate alignment and conservation track in the UCSC Genome Browser. Genome Research. 17: 1797-808. PMID 17984227 DOI: 10.1101/Gr.6761107 |
0.364 |
|
2007 |
Weir BA, Woo MS, Getz G, Perner S, Ding L, Beroukhim R, Lin WM, Province MA, Kraja A, Johnson LA, Shah K, Sato M, Thomas RK, Barletta JA, Borecki IB, ... ... Gibbs RA, et al. Characterizing the cancer genome in lung adenocarcinoma. Nature. 450: 893-8. PMID 17982442 DOI: 10.1038/Nature06358 |
0.327 |
|
2007 |
Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES, Frazer KA, Ballinger DG, ... ... Gibbs RA, ... ... Gibbs RA, et al. Genome-wide detection and characterization of positive selection in human populations. Nature. 449: 913-8. PMID 17943131 DOI: 10.1038/Nature06250 |
0.315 |
|
2007 |
Albert TJ, Molla MN, Muzny DM, Nazareth L, Wheeler D, Song X, Richmond TA, Middle CM, Rodesch MJ, Packard CJ, Weinstock GM, Gibbs RA. Direct selection of human genomic loci by microarray hybridization. Nature Methods. 4: 903-5. PMID 17934467 DOI: 10.1038/Nmeth1111 |
0.365 |
|
2007 |
Krzysiak AJ, Scott SA, Hicks KA, Fierke CA, Gibbs RA. Evaluation of protein farnesyltransferase substrate specificity using synthetic peptide libraries. Bioorganic & Medicinal Chemistry Letters. 17: 5548-51. PMID 17804232 DOI: 10.1016/J.Bmcl.2007.08.024 |
0.534 |
|
2007 |
Birney E, Stamatoyannopoulos JA, Dutta A, Guigó R, Gingeras TR, Margulies EH, Weng Z, Snyder M, Dermitzakis ET, Thurman RE, Kuehn MS, Taylor CM, Neph S, Koch CM, ... ... Gibbs RA, et al. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 447: 799-816. PMID 17571346 DOI: 10.1038/Nature05874 |
0.359 |
|
2007 |
Margulies EH, Cooper GM, Asimenos G, Thomas DJ, Dewey CN, Siepel A, Birney E, Keefe D, Schwartz AS, Hou M, Taylor J, Nikolaev S, Montoya-Burgos JI, Löytynoja A, Whelan S, ... ... Gibbs RA, et al. Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Research. 17: 760-74. PMID 17567995 DOI: 10.1101/Gr.6034307 |
0.364 |
|
2007 |
Krzysiak AJ, Rawat DS, Scott SA, Pais JE, Handley M, Harrison ML, Fierke CA, Gibbs RA. Combinatorial modulation of protein prenylation. Acs Chemical Biology. 2: 385-9. PMID 17530735 DOI: 10.1021/Cb700062B |
0.675 |
|
2007 |
Gibbs RA, Rogers J, Katze MG, Bumgarner R, Weinstock GM, Mardis ER, Remington KA, Strausberg RL, Venter JC, Wilson RK, Batzer MA, Bustamante CD, Eichler EE, Hahn MW, et al. Evolutionary and biomedical insights from the rhesus macaque genome. Science (New York, N.Y.). 316: 222-34. PMID 17431167 DOI: 10.1126/Science.1139247 |
0.36 |
|
2007 |
Cotton RG, Appelbe W, Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody L, Brookes A, Brown AF, Byers P, Cantu JM, Cassiman JJ, ... ... Gibbs R, et al. Recommendations of the 2006 Human Variome Project meeting. Nature Genetics. 39: 433-6. PMID 17392799 DOI: 10.1038/Ng2024 |
0.304 |
|
2007 |
Solignac M, Zhang L, Mougel F, Li B, Vautrin D, Monnerot M, Cornuet JM, Worley KC, Weinstock GM, Gibbs RA. The genome of Apis mellifera: Dialog between linkage mapping and sequence assembly Genome Biology. 8. PMID 17381825 DOI: 10.1186/Gb-2007-8-3-403 |
0.317 |
|
2006 |
Johnson ME, Cheng Z, Morrison VA, Scherer S, Ventura M, Gibbs RA, Green ED, Eichler EE. Recurrent duplication-driven transposition of DNA during hominoid evolution. Proceedings of the National Academy of Sciences of the United States of America. 103: 17626-31. PMID 17101969 DOI: 10.1073/Pnas.0605426103 |
0.329 |
|
2006 |
Sodergren E, Shen Y, Song X, Zhang L, Gibbs RA, Weinstock GM. Shedding genomic light on Aristotle's lantern Developmental Biology. 300: 2-8. PMID 17097628 DOI: 10.1016/J.Ydbio.2006.10.005 |
0.38 |
|
2006 |
Sodergren E, Weinstock GM, Davidson EH, Cameron RA, Gibbs RA, Angerer RC, Angerer LM, Arnone MI, Burgess DR, Burke RD, Coffman JA, Dean M, Elphick MR, Ettensohn CA, et al. The genome of the sea urchin Strongylocentrotus purpuratus. Science (New York, N.Y.). 314: 941-52. PMID 17095691 DOI: 10.1126/Science.1133609 |
0.617 |
|
2006 |
Elsik CG, Worley KC, Zhang L, Milshina NV, Jiang H, Reese JT, Childs KL, Venkatraman A, Dickens CM, Weinstock GM, Gibbs RA. Community annotation: procedures, protocols, and supporting tools. Genome Research. 16: 1329-33. PMID 17065605 DOI: 10.1101/Gr.5580606 |
0.305 |
|
2006 |
Donelson JL, Hodges HB, Macdougall DD, Henriksen BS, Hrycyna CA, Gibbs RA. Amide-substituted farnesylcysteine analogs as inhibitors of human isoprenylcysteine carboxyl methyltransferase. Bioorganic & Medicinal Chemistry Letters. 16: 4420-3. PMID 16777414 DOI: 10.1016/J.Bmcl.2006.05.029 |
0.702 |
|
2006 |
Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, ... ... Gibbs RA, et al. The DNA sequence, annotation and analysis of human chromosome 3. Nature. 440: 1194-8. PMID 16641997 DOI: 10.1038/Nature04728 |
0.356 |
|
2006 |
McGuire AL, Gibbs RA. Genetics. No longer de-identified. Science (New York, N.Y.). 312: 370-1. PMID 16627725 DOI: 10.1126/Science.1125339 |
0.301 |
|
2006 |
Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, ... ... Gibbs RA, et al. The finished DNA sequence of human chromosome 12. Nature. 440: 346-51. PMID 16541075 DOI: 10.1038/Nature04569 |
0.319 |
|
2005 |
Zhang J, Wheeler DA, Yakub I, Wei S, Sood R, Rowe W, Liu PP, Gibbs RA, Buetow KH. SNPdetector: a software tool for sensitive and accurate SNP detection. Plos Computational Biology. 1: e53. PMID 16261194 DOI: 10.1371/Journal.Pcbi.0010053 |
0.32 |
|
2005 |
Gibbs R. Deeper into the genome Nature. 437: 1233-1234. PMID 16251930 DOI: 10.1038/4371233A |
0.329 |
|
2005 |
Yu F, Sabeti PC, Hardenbol P, Fu Q, Fry B, Lu X, Ghose S, Vega R, Perez A, Pasternak S, Leal SM, Willis TD, Nelson DL, Belmont J, Gibbs RA. Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. Plos Genetics. 1: e41. PMID 16205789 DOI: 10.1371/Journal.Pgen.0010041 |
0.336 |
|
2005 |
Henriksen BS, Anderson JL, Hrycyna CA, Gibbs RA. Synthesis of desthio prenylcysteine analogs: sulfur is important for biological activity. Bioorganic & Medicinal Chemistry Letters. 15: 5080-3. PMID 16183278 DOI: 10.1016/J.Bmcl.2005.07.075 |
0.702 |
|
2005 |
Reigard SA, Zahn TJ, Haworth KB, Hicks KA, Fierke CA, Gibbs RA. Interplay of isoprenoid and peptide substrate specificity in protein farnesyltransferase. Biochemistry. 44: 11214-23. PMID 16101305 DOI: 10.1021/Bi050725L |
0.74 |
|
2005 |
Henriksen BS, Zahn TJ, Evanseck JD, Firestine SM, Gibbs RA. Computational and conformational evaluation of FTase alternative substrates: insight into a novel enzyme binding pocket. Journal of Chemical Information and Modeling. 45: 1047-52. PMID 16045300 DOI: 10.1021/Ci0496550 |
0.697 |
|
2005 |
Siepel A, Bejerano G, Pedersen JS, Hinrichs AS, Hou M, Rosenbloom K, Clawson H, Spieth J, Hillier LW, Richards S, Weinstock GM, Wilson RK, Gibbs RA, Kent WJ, Miller W, et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Research. 15: 1034-50. PMID 16024819 DOI: 10.1101/Gr.3715005 |
0.335 |
|
2005 |
Anderson JL, Henriksen BS, Gibbs RA, Hrycyna CA. The isoprenoid substrate specificity of isoprenylcysteine carboxylmethyltransferase: development of novel inhibitors. The Journal of Biological Chemistry. 280: 29454-61. PMID 15946942 DOI: 10.1074/Jbc.M504982200 |
0.71 |
|
2005 |
Eichinger L, Pachebat JA, Glöckner G, Rajandream MA, Sucgang R, Berriman M, Song J, Olsen R, Szafranski K, Xu Q, Tunggal B, Kummerfeld S, Madera M, Konfortov BA, Rivero F, ... ... Gibbs R, et al. The genome of the social amoeba Dictyostelium discoideum. Nature. 435: 43-57. PMID 15875012 DOI: 10.1038/Nature03481 |
0.332 |
|
2005 |
Milosavljevic A, Harris RA, Sodergren EJ, Jackson AR, Kalafus KJ, Hodgson A, Cree A, Dai W, Csuros M, Zhu B, de Jong PJ, Weinstock GM, Gibbs RA. Pooled genomic indexing of rhesus macaque. Genome Research. 15: 292-301. PMID 15687293 DOI: 10.1101/Gr.3162505 |
0.343 |
|
2005 |
Richards S, Liu Y, Bettencourt BR, Hradecky P, Letovsky S, Nielsen R, Thornton K, Hubisz MJ, Chen R, Meisel RP, Couronne O, Hua S, Smith MA, Zhang P, Liu J, ... ... Gibbs RA, et al. Comparative genome sequencing of Drosophila pseudoobscura: chromosomal, gene, and cis-element evolution. Genome Research. 15: 1-18. PMID 15632085 DOI: 10.1101/Gr.3059305 |
0.371 |
|
2004 |
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, ... ... Gibbs RA, et al. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Research. 14: 2121-7. PMID 15489334 DOI: 10.1101/Gr.2596504 |
0.344 |
|
2004 |
Li J, Jiang T, Mao JH, Balmain A, Peterson L, Harris C, Rao PH, Havlak P, Gibbs R, Cai WW. Genomic segmental polymorphisms in inbred mouse strains. Nature Genetics. 36: 952-4. PMID 15322544 DOI: 10.1038/Ng1417 |
0.314 |
|
2004 |
McFarland MJ, Porter AC, Rakhshan FR, Rawat DS, Gibbs RA, Barker EL. A role for caveolae/lipid rafts in the uptake and recycling of the endogenous cannabinoid anandamide. The Journal of Biological Chemistry. 279: 41991-7. PMID 15292270 DOI: 10.1074/Jbc.M407250200 |
0.533 |
|
2004 |
Belmont JW, Gibbs RA. Genome-wide linkage disequilibrium and haplotype maps. American Journal of Pharmacogenomics : Genomics-Related Research in Drug Development and Clinical Practice. 4: 253-62. PMID 15287819 DOI: 10.2165/00129785-200404040-00005 |
0.324 |
|
2004 |
Wu JQ, Garcia AM, Hulyk S, Sneed A, Kowis C, Yuan Y, Steffen D, McPherson JD, Gunaratne PH, Gibbs RA. Large-scale RT-PCR recovery of full-length cDNA clones. Biotechniques. 36: 690-6, 698-700. PMID 15088387 DOI: 10.2144/04364Dd03 |
0.311 |
|
2004 |
Havlak P, Chen R, Durbin KJ, Egan A, Ren Y, Song XZ, Weinstock GM, Gibbs RA. The Atlas genome assembly system Genome Research. 14: 721-732. PMID 15060016 DOI: 10.1101/Gr.2264004 |
0.354 |
|
2004 |
Chen R, Sodergren E, Weinstock GM, Gibbs RA. Dynamic building of a BAC clone tiling path for the rat genome sequencing project Genome Research. 14: 679-684. PMID 15060010 DOI: 10.1101/Gr.2171704 |
0.357 |
|
2004 |
Wu JQ, Shteynberg D, Arumugam M, Gibbs RA, Brent MR. Identification of rat genes by TWINSCAN gene prediction, RT-PCR, and direct sequencing. Genome Research. 14: 665-71. PMID 15060008 DOI: 10.1101/Gr.1959604 |
0.366 |
|
2004 |
Dewey C, Wu JQ, Cawley S, Alexandersson M, Gibbs R, Pachter L. Accurate identification of novel human genes through simultaneous gene prediction in human, mouse, and rat. Genome Research. 14: 661-4. PMID 15060007 DOI: 10.1101/Gr.1939804 |
0.304 |
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2004 |
Gibbs RA, Weinstock GM, Metzker ML, Muzny DM, Sodergren EJ, Scherer S, Scott G, Steffen D, Worley KC, Burch PE, Okwuonu G, Hines S, Lewis L, DeRamo C, Delgado O, et al. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature. 428: 493-521. PMID 15057822 DOI: 10.1038/Nature02426 |
0.375 |
|
2003 |
Gunaratne PH, Wu JQ, Garcia AM, Hulyk S, Worley KC, Margolin JF, Gibbs RA. Concatenation cDNA sequencing for transcriptome analysis. Comptes Rendus Biologies. 326: 971-7. PMID 14744103 DOI: 10.1016/J.Crvi.2003.09.032 |
0.334 |
|
2003 |
Gibbs RA, Nelson DL. Human genetics. Primate shadow play. Science (New York, N.Y.). 299: 1331-3. PMID 12610290 DOI: 10.1126/Science.1082931 |
0.352 |
|
2003 |
Belmont JW, Hardenbol P, Willis TD, Yu F, Yang H, Ch'Ang LY, Huang W, Liu B, Shen Y, Tam PKH, Tsui LC, Waye MMY, Wong JTF, Zeng C, Zhang Q, ... ... Gibbs RA, et al. The international HapMap project Nature. 426: 789-796. DOI: 10.1038/Nature02168 |
0.357 |
|
2002 |
Celniker SE, Wheeler DA, Kronmiller B, Carlson JW, Halpern A, Patel S, Adams M, Champe M, Dugan SP, Frise E, Hodgson A, George RA, Hoskins RA, Laverty T, Muzny DM, ... ... Gibbs RA, et al. Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence. Genome Biology. 3: RESEARCH0079. PMID 12537568 DOI: 10.1186/Gb-2002-3-12-Research0079 |
0.351 |
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2002 |
Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, ... ... Gibbs RA, et al. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99: 16899-903. PMID 12477932 DOI: 10.1073/Pnas.242603899 |
0.344 |
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2002 |
Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF, Agarwal P, Agarwala R, Ainscough R, Alexandersson M, An P, Antonarakis SE, Attwood J, Baertsch R, Bailey J, ... ... Gibbs RA, et al. Initial sequencing and comparative analysis of the mouse genome. Nature. 420: 520-62. PMID 12466850 DOI: 10.1038/Nature01262 |
0.384 |
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2002 |
Rawat DS, Gibbs RA. Synthesis of 7-substituted farnesyl diphosphate analogues. Organic Letters. 4: 3027-30. PMID 12201708 DOI: 10.1021/Ol026176I |
0.567 |
|
2002 |
Scott GBI, Steffen DL, Edgar D, Warren JT, Kovář CL, Scherer SE, Havlak PH, Gibbs RA. Loader lite: A new software tool for the ABI PRISM® 3700 DNA sequencer Biotechniques. 32: 1366-1371. PMID 12074168 DOI: 10.2144/02326Bc01 |
0.305 |
|
2002 |
Shah G, Brugada R, Gonzalez O, Czernuszewicz G, Gibbs RA, Bachinski L, Roberts R. The cloning, genomic organization and tissue expression profile of the human DLG5 gene: Correction. Bmc Genomics. 3: 14. PMID 12060488 DOI: 10.1186/1471-2164-3-14 |
0.305 |
|
2002 |
Dederich DA, Okwuonu G, Garner T, Denn A, Sutton A, Escotto M, Martindale A, Delgado O, Muzny DM, Gibbs RA, Metzker ML. Glass bead purification of plasmid template DNA for high throughput sequencing of mammalian genomes. Nucleic Acids Research. 30: e32. PMID 11917038 DOI: 10.1093/Nar/30.7.E32 |
0.342 |
|
2002 |
Shah G, Brugada R, Gonzalez O, Czernuszewicz G, Gibbs RA, Bachinski L, Roberts R. The cloning, genomic organization and tissue expression profile of the human DLG5 gene. Bmc Genomics. 3: 6. PMID 11876824 DOI: 10.1186/1471-2164-3-6 |
0.344 |
|
2001 |
Chen R, Bouck JB, Weinstock GM, Gibbs RA. Comparing vertebrate whole-genome shotgun reads to the human genome Genome Research. 11: 1807-1816. PMID 11691844 DOI: 10.1101/Gr.203601 |
0.37 |
|
2001 |
Cai WW, Chen R, Gibbs RA, Bradley A. A clone-array pooled shotgun strategy for sequencing large genomes. Genome Research. 11: 1619-23. PMID 11591638 DOI: 10.1101/Gr.198101 |
0.36 |
|
2001 |
McPherson JD, Marra M, Hillier L, Waterston RH, Chinwalla A, Wallis J, Sekhon M, Wylie K, Mardis ER, Wilson RK, Fulton R, Kucaba TA, Wagner-McPherson C, Barbazuk WB, Gregory SG, ... ... Gibbs R, et al. A physical map of the human genome. Nature. 409: 934-41. PMID 11237014 DOI: 10.1038/35057157 |
0.338 |
|
2001 |
Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, ... ... Gibbs RA, et al. Initial sequencing and analysis of the human genome. Nature. 409: 860-921. PMID 11237011 DOI: 10.1038/35057062 |
0.358 |
|
2001 |
Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, Fitzhugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, ... ... Gibbs RA, et al. Erratum: Initial sequencing and analysis of the human genome: International Human Genome Sequencing Consortium (Nature (2001) 409 (860-921)) Nature. 412: 565-566. DOI: 10.1038/35087627 |
0.354 |
|
2000 |
Bouck J, McLeod MP, Worley K, Gibbs RA. The Human Transcript Database: A catalogue of full length cDNA inserts Bioinformatics. 16: 176-177. PMID 10842740 DOI: 10.1093/Bioinformatics/16.2.176 |
0.311 |
|
2000 |
Bouck JB, Metzker ML, Gibbs RA. Shotgun sample sequence comparisons between mouse and human genomes Nature Genetics. 25: 31-33. PMID 10802652 DOI: 10.1038/75563 |
0.355 |
|
2000 |
Schwartz S, Zhang Z, Frazer KA, Smit A, Riemer C, Bouck J, Gibbs R, Hardison R, Miller W. PipMaker - A web server for aligning two genomic DNA sequences Genome Research. 10: 577-586. PMID 10779500 DOI: 10.1101/Gr.10.4.577 |
0.352 |
|
2000 |
Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, ... ... Gibbs RA, et al. The genome sequence of Drosophila melanogaster. Science (New York, N.Y.). 287: 2185-95. PMID 10731132 DOI: 10.1126/Science.287.5461.2185 |
0.381 |
|
2000 |
Bidichandani SI, Purandare SM, Taylor EE, Gumin G, Machkhas H, Harati Y, Gibbs RA, Ashizawa T, Patel PI. Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence. Human Molecular Genetics. 8: 2425-36. PMID 10556290 DOI: 10.1093/Hmg/8.13.2425 |
0.357 |
|
1999 |
Gibbs RA. The weed paves the way Nature Genetics. 22: 219-220. PMID 10391205 DOI: 10.1038/10274 |
0.384 |
|
1999 |
Bouck J, Yu W, Gibbs R, Worley K. Comparison of gene indexing databases Trends in Genetics. 15: 159-162. PMID 10203827 DOI: 10.1016/S0168-9525(99)01709-6 |
0.318 |
|
1998 |
Timms KM, Ansari-Lari MA, Morris W, Brown SN, Gibbs RA. The genomic organization of Isopeptidase T-3 (ISOT-3), a new member of the ubiquitin specific protease family (UBP). Gene. 217: 101-6. PMID 9841226 DOI: 10.1016/S0378-1119(98)00341-2 |
0.333 |
|
1998 |
Bouck J, Miller W, Gorrell JH, Muzny D, Gibbs RA. Analysis of the quality and utility of random shotgun sequencing at low redundancies. Genome Research. 8: 1074-84. PMID 9799794 DOI: 10.1101/Gr.8.10.1074 |
0.347 |
|
1998 |
Timms KM, Huckett LE, Belmont JW, Shapira SK, Gibbs RA. DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression. Human Mutation. 11: 121-6. PMID 9482575 DOI: 10.1002/(Sici)1098-1004(1998)11:2<121::Aid-Humu4>3.0.Co;2-M |
0.336 |
|
1998 |
Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Human Molecular Genetics. 6: 1595-603. PMID 9285799 DOI: 10.1093/Hmg/6.9.1595 |
0.353 |
|
1997 |
Gibbs RA. Hares and tortoises in the race to sequence the human genome: expectations and realities. Trends in Genetics : Tig. 13: 381-3. PMID 9351336 DOI: 10.1016/S0168-9525(97)01267-5 |
0.35 |
|
1997 |
Huq AH, Sutcliffe JS, Nakao M, Shen Y, Gibbs RA, Beaudet AL. Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity. Genome Research. 7: 642-8. PMID 9199937 DOI: 10.1101/Gr.7.6.642 |
0.324 |
|
1997 |
Timms KM, Bondeson ML, Ansari-Lari MA, Lagerstedt K, Muzny DM, Dugan-Rocha SP, Nelson DL, Pettersson U, Gibbs RA. Molecular and phenotypic variation in patients with severe Hunter syndrome. Human Molecular Genetics. 6: 479-86. PMID 9147653 DOI: 10.1093/Hmg/6.3.479 |
0.311 |
|
1997 |
Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA. Large-scale concatenation cDNA sequencing. Genome Research. 7: 353-8. PMID 9110174 DOI: 10.1101/Gr.7.4.353 |
0.338 |
|
1997 |
Oeltjen JC, Malley TM, Muzny DM, Miller W, Gibbs RA, Belmont JW. Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains Genome Research. 7: 315-329. PMID 9110171 DOI: 10.1101/Gr.7.4.315 |
0.362 |
|
1997 |
Ansari-Lari MA, Shen Y, Muzny DM, Lee W, Gibbs RA. Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. Genome Research. 7: 268-80. PMID 9074930 DOI: 10.1101/Gr.7.3.268 |
0.367 |
|
1997 |
Andersson B, Lu J, Shen Y, Wentland MA, Gibbs RA. Simultaneous shotgun sequencing of multiple cDNA clones. Dna Sequence : the Journal of Dna Sequencing and Mapping. 7: 63-70. PMID 9063643 DOI: 10.3109/10425179709020153 |
0.331 |
|
1997 |
Boguski M, Chakravarti A, Gibbs R, Green E, Myers RM. The end of the beginning: the race to begin human genome sequencing. Genome Research. 6: 771-2. PMID 8889545 DOI: 10.1101/Gr.6.9.771 |
0.346 |
|
1996 |
Jones SN, Ansari-Lari MA, Hancock AR, Jones WJ, Gibbs RA, Donehower LA, Bradley A. Genomic organization of the mouse double minute 2 gene Gene. 175: 209-213. PMID 8917101 DOI: 10.1016/0378-1119(96)00151-5 |
0.342 |
|
1996 |
Eichler EE, Lu F, Shen Y, Antonacci R, Jurecic V, Doggett NA, Moyzis RK, Baldini A, Gibbs RA, Nelson DL. Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. Human Molecular Genetics. 5: 899-912. PMID 8817324 DOI: 10.1093/Hmg/5.7.899 |
0.359 |
|
1996 |
Ansari-Lari MA, Muzny DM, Lu J, Lu F, Lilley CE, Spanos S, Malley T, Gibbs RA. A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13 Genome Research. 6: 314-326. PMID 8723724 DOI: 10.1101/Gr.6.4.314 |
0.365 |
|
1996 |
Gu Y, Shen Y, Gibbs RA, Nelson DL. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nature Genetics. 13: 109-13. PMID 8673086 DOI: 10.1038/Ng0596-109 |
0.304 |
|
1996 |
Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nature Genetics. 12: 288-97. PMID 8589720 DOI: 10.1038/Ng0396-288 |
0.311 |
|
1995 |
Timms KM, Lu F, Shen Y, Pierson CA, Muzny DM, Gu Y, Nelson DL, Gibbs RA. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Research. 5: 71-8. PMID 8717057 DOI: 10.1101/Gr.5.1.71 |
0.363 |
|
1995 |
Andersson B, Lu F, Muzny DM, Warren ST, Gibbs RA. Complete sequence of a 38.4-kb human cosmid insert containing the polymorphic marker DXS455 from xq28 Mitochondrial Dna. 5: 219-223. PMID 7626781 DOI: 10.3109/10425179509030969 |
0.334 |
|
1995 |
Gibbs RA. Pressing ahead with human genome sequencing Nature Genetics. 11: 121-125. PMID 7550337 DOI: 10.1038/Ng1095-121 |
0.353 |
|
1995 |
Liotta LJ, Gibbs RA, Taylor SD, Benkovic PA, Benkovic SJ. Antibody-Catalyzed Rearrangement of a Peptide Bond: Mechanistic and Kinetic Investigations Journal of the American Chemical Society. 117: 4729-4741. DOI: 10.1021/Ja00122A001 |
0.721 |
|
1995 |
Liotta LJ, Gibbs RA, Taylor SD, Benkovic PA, Benkovic SJ. Antibody-catalyzed rearrangement of a peptide bond: Mechanistic and kinetic investigations Journal of the American Chemical Society. 117: X-4737. |
0.687 |
|
1995 |
Liotta LJ, Gibbs RA, Taylor SD, Benkovic PA, Benkovic SJ. Antibody-catalyzed rearrangement of a peptide bond: Mechanistic and kinetic investigations Journal of the American Chemical Society. 117: X-4737. |
0.687 |
|
1994 |
Andersson B, Povinelli CM, Wentland MA, Shen Y, Muzny DM, Gibbs RA. Adaptor-based uracil DNA glycosylase cloning simplifies shotgun library construction for large-scale sequencing. Analytical Biochemistry. 218: 300-8. PMID 8074284 DOI: 10.1006/Abio.1994.1182 |
0.304 |
|
1994 |
Burgess K, Gibbs RA, Metzker ML, Raghavachari R. Synthesis of an oxyamide linked nucleotide dimer and incorporation into antisense oligonucleotide sequences Journal of the Chemical Society, Chemical Communications. 915-916. DOI: 10.1039/C39940000915 |
0.306 |
|
1993 |
Povinelli CM, Gibbs RA. Large-scale sequencing library production: an adaptor-based strategy. Analytical Biochemistry. 210: 16-26. PMID 8489013 DOI: 10.1006/Abio.1993.1144 |
0.306 |
|
1993 |
Eichler EE, Richards S, Gibbs RA, Nelson DL. Fine structure of the human FMR1 gene. Human Molecular Genetics. 2: 1147-53. PMID 8401496 DOI: 10.1093/Hmg/2.8.1147 |
0.34 |
|
1993 |
Andersson B, Ying JH, Lewis DE, Gibbs RA. Rapid characterization of HIV-1 sequence diversity using denaturing gradient gel electrophoresis and direct automated DNA sequencing of PCR products. Pcr Methods and Applications. 2: 293-300. PMID 8324502 DOI: 10.1101/Gr.2.4.293 |
0.318 |
|
1993 |
Zu Z, Yu Y, Gibbs RA, Caskey CT, Hsie AW. Multiplex DNA amplification and solid-phase direct sequencing for mutation analysis at the hprt locus in Chinese hamster cells. Mutation Research. 288: 237-48. PMID 7688083 DOI: 10.1016/0027-5107(93)90090-3 |
0.335 |
|
1992 |
Yu Y‐, Xu Z, Gibbs RA, Hsie AW. Polymerase chain reaction-based comprehensive procedure for the analysis of the mutation spectrum at the hypoxanthine-guanine phosphoribosyltransferase locus in Chinese hamster cells. Environmental and Molecular Mutagenesis. 19: 267-273. PMID 1600952 DOI: 10.1002/Em.2850190402 |
0.31 |
|
1992 |
Gibbs RA, Taylor S, Benkovic SJ. Antibody-catalyzed rearrangement of the peptide bond. Science (New York, N.Y.). 258: 803-5. PMID 1439788 DOI: 10.1126/Science.1439788 |
0.422 |
|
1992 |
Edwards MC, Gibbs RA. A human dimorphism resulting from loss of an Alu Genomics. 14: 590-597. PMID 1330888 DOI: 10.1016/S0888-7543(05)80156-9 |
0.363 |
|
1992 |
Pizzuti A, Pieretti M, Fenwick RG, Gibbs RA, Caskey CT. A transposon-like element in the deletion-prone region of the dystrophin gene. Genomics. 13: 594-600. PMID 1322353 DOI: 10.1016/0888-7543(92)90129-G |
0.332 |
|
1992 |
Gibbs RA, Benkovic PA, Janda KD, Lerner RA, Benkovic SJ. Substituent effects of an antibody-catalyzed hydrolysis of phenyl esters: further evidence for an acyl-antibody intermediate Journal of the American Chemical Society. 114: 3528-3534. DOI: 10.1021/Ja00035A057 |
0.414 |
|
1991 |
Gibbs RA, Posner BA, Filpula DR, Dodd SW, Finkelman MA, Lee TK, Wroble M, Whitlow M, Benkovic SJ. Construction and characterization of a single-chain catalytic antibody. Proceedings of the National Academy of Sciences of the United States of America. 88: 4001-4. PMID 2023948 DOI: 10.1073/Pnas.88.9.4001 |
0.358 |
|
1991 |
Zheng H, Hasty P, Brenneman MA, Grompe M, Gibbs RA, Wilson JH, Bradley A. Fidelity of targeted recombination in human fibroblasts and murine embryonic stem cells. Proceedings of the National Academy of Sciences of the United States of America. 88: 8067-71. PMID 1896453 DOI: 10.1073/Pnas.88.18.8067 |
0.303 |
|
1991 |
Gordon RB, Dawson PA, Sculley DG, Emmerson BT, Caskey CT, Gibbs RA. The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO: two Lesch-Nyhan patients with reduced amounts of mRNA. Gene. 108: 299-304. PMID 1840549 DOI: 10.1016/0378-1119(91)90450-P |
0.339 |
|
1989 |
Gibbs RA, Nguyen PN, McBride LJ, Koepf SM, Caskey CT. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proceedings of the National Academy of Sciences of the United States of America. 86: 1919-23. PMID 2928313 DOI: 10.1073/Pnas.86.6.1919 |
0.325 |
|
1989 |
Okamura WH, Aurrecoechea JM, Gibbs RA, Norman AW. Studies of vitamin D (calciferol) and its analogs. 35. Synthesis and biological activity of 9,11-dehydrovitamin D3 analogs: stereoselective preparation of 6.beta.-vitamin D vinylallenes and a concise enynol synthesis for preparing the A-ring The Journal of Organic Chemistry. 54: 4072-4083. DOI: 10.1021/Jo00278A018 |
0.493 |
|
1989 |
Gibbs RA, Bartels K, Lee RWK, Okamura WH. An enantioselective central-axial-central chiral element transfer process leading to a concise synthesis of (+)-sterpurene: intramolecular Diels-Alder reactions of vinylallene sulfoxides Journal of the American Chemical Society. 111: 3717-3725. DOI: 10.1021/Ja00192A033 |
0.506 |
|
1989 |
GIBBS RA, BARTELS K, LEE RWK, OKAMURA WH. ChemInform Abstract: An Enantioselective Central-Axial-Central Chiral Element Transfer Process Leading to a Concise Synthesis of (+)-Sterpurene: Intramolecular Diels-Alder Reactions of Vinylallene Sulfoxides. Cheminform. 20. DOI: 10.1002/chin.198936079 |
0.433 |
|
1988 |
Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Research. 16: 11141-56. PMID 3205741 DOI: 10.1093/Nar/16.23.11141 |
0.352 |
|
1988 |
Barrack SA, Gibbs RA, Okamura WH. Studies of vitamin D (calciferol) and its analogs. 34. Potential inhibitors of vitamin D metabolism: an oxa analog of vitamin D The Journal of Organic Chemistry. 53: 1790-1796. DOI: 10.1021/Jo00243A035 |
0.486 |
|
1988 |
Gibbs RA, Okamura WH. A short enantioselective synthesis of (+)-sterpurene: complete intramolecular transfer of central to axial to central chiral elements Journal of the American Chemical Society. 110: 4062-4063. DOI: 10.1021/Ja00220A069 |
0.498 |
|
1988 |
BARRACK SA, GIBBS RA, OKAMURA WH. ChemInform Abstract: Studies of Vitamin D (Calciferol) and Its Analogues. Part 34. Potential Inhibitors of Vitamin D Metabolism: An Oxa Analogue of Vitamin D. Cheminform. 19. DOI: 10.1002/chin.198840285 |
0.417 |
|
1988 |
GIBBS RA, OKAMURA WH. ChemInform Abstract: A Short Enantioselective Synthesis of (+)-Sterpurene: Complete Intramolecular Transfer of Central to Axial to Central Chiral Elements. Cheminform. 19. DOI: 10.1002/chin.198839272 |
0.436 |
|
1988 |
GIBBS RA, OKAMURA WH. ChemInform Abstract: Synthesis of 3-Deoxy-1α,25-dihydroxy-9,11-dehydrovitamin D3 (II). Selective Formation of 6β-Vitamin D Vinylallenes and Their Thermal (1,5)-Sigmatropic Hydrogen Shift. Cheminform. 19. DOI: 10.1002/chin.198820292 |
0.421 |
|
1987 |
Veres G, Gibbs RA, Scherer SE, Caskey CT. The molecular basis of the sparse fur mouse mutation. Science (New York, N.Y.). 237: 415-7. PMID 3603027 DOI: 10.1126/Science.3603027 |
0.341 |
|
1987 |
Gibbs RA, Okamura WH. Synthesis of 3-deoxy-1α,25-dihydroxy-9,11-dehydrovitamin D3: Selective formation of 6β-vitamin D vinylallenes and their thermal [1,5]-sigmatropic hydrogen shift Tetrahedron Letters. 28: 6021-6024. DOI: 10.1016/S0040-4039(00)96853-9 |
0.429 |
|
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