| Year |
Citation |
Score |
| 2020 |
Robak LA, Du R, Yuan B, Gu S, Alfradique-Dunham I, Kondapalli V, Hinojosa E, Stillwell A, Young E, Zhang C, Song X, Du H, Gambin T, Jhangiani SN, Coban Akdemir Z, ... ... Shaw C, et al. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease. Neurology. Genetics. 6: e498. PMID 32802956 DOI: 10.1212/Nxg.0000000000000498 |
0.336 |
|
| 2019 |
Cao Y, Tokita MJ, Chen ES, Ghosh R, Chen T, Feng Y, Gorman E, Gibellini F, Ward PA, Braxton A, Wang X, Meng L, Xiao R, Bi W, Xia F, ... ... Shaw C, et al. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. Genome Medicine. 11: 48. PMID 31349857 DOI: 10.1186/S13073-019-0658-2 |
0.32 |
|
| 2019 |
Madan N, Ghazi AR, Kong X, Chen ES, Shaw CA, Edelstein LC. Functionalization of CD36 Cardiovascular Disease and Expression Associated Variants by Interdisciplinary High Throughput Analysis. Plos Genetics. 15: e1008287. PMID 31344026 DOI: 10.1371/Journal.Pgen.1008287 |
0.324 |
|
| 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, ... ... Shaw CA, 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 |
0.381 |
|
| 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, ... ... Shaw CA, et al. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. PMID 30827684 DOI: 10.1016/J.Cell.2019.01.045 |
0.351 |
|
| 2019 |
Kong X, Ma L, Chen E, Shaw CA, Edelstein LC. Identification of the Regulatory Elements and Target Genes of Megakaryopoietic Transcription Factor MEF2C. Thrombosis and Haemostasis. PMID 30731491 DOI: 10.1055/S-0039-1678694 |
0.365 |
|
| 2019 |
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, et al. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nature Medicine. PMID 30692697 DOI: 10.1038/s41591-018-0334-x |
0.339 |
|
| 2018 |
Callaway DA, Campbell IM, Stover SR, Hernandez-Garcia A, Jhangiani SN, Punetha J, Paine IS, Posey JE, Muzny D, Lally KP, Lupski JR, Shaw CA, Fernandes CJ, Scott DA. Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm. Journal of Pediatric Genetics. 7: 164-173. PMID 30430034 DOI: 10.1055/S-0038-1655755 |
0.331 |
|
| 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, 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 |
0.351 |
|
| 2018 |
Madan N, Ghazi A, Kong X, Chen E, Shaw C, Edelstein LC. Identification of the Genetic Variant Responsible for Variable Platelet CD36 Expression By Massively Parallel Reporter Assay Blood. 132: 520-520. DOI: 10.1182/Blood-2018-99-118607 |
0.318 |
|
| 2017 |
Takada Y, Sakai Y, Matsushita Y, Ohkubo K, Koga Y, Akamine S, Torio M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Kagami M, Hara T, Ohga S. Sustained endocrine profiles of a girl with WAGR syndrome. Bmc Medical Genetics. 18: 117. PMID 29061165 DOI: 10.1186/S12881-017-0477-5 |
0.306 |
|
| 2017 |
Kong X, Simon LM, Holinstat M, Shaw CA, Bray PF, Edelstein LC. Identification of a functional genetic variant driving racially dimorphic platelet gene expression of the thrombin receptor regulator, PCTP. Thrombosis and Haemostasis. PMID 28251237 DOI: 10.1160/Th16-09-0692 |
0.35 |
|
| 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, ... ... Shaw CA, 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 |
0.363 |
|
| 2017 |
Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, ... ... Shaw CA, et al. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. American Journal of Human Genetics. PMID 28132691 DOI: 10.1016/J.Ajhg.2017.01.003 |
0.327 |
|
| 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, 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 |
0.376 |
|
| 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, ... ... Shaw CA, et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. The New England Journal of Medicine. PMID 27959697 DOI: 10.1056/Nejmoa1516767 |
0.35 |
|
| 2016 |
Cowan JR, Tariq M, Shaw C, Rao M, Belmont JW, Lalani SR, Smolarek TA, Ware SM. Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 371. PMID 27821535 DOI: 10.1098/Rstb.2015.0406 |
0.38 |
|
| 2016 |
Breman AM, Chow JC, U'Ren L, Normand EA, Qdaisat S, Zhao L, Henke DM, Chen R, Shaw CA, Jackson L, Yang Y, Vossaert L, Needham RH, Chang EJ, Campton D, et al. Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing. Prenatal Diagnosis. PMID 27616633 DOI: 10.1097/01.Ogx.0000511968.79993.Bf |
0.341 |
|
| 2016 |
Normand E, Qdaisat S, Bi W, Shaw C, Van den Veyver I, Beaudet A, Breman A. Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells. Prenatal Diagnosis. PMID 27368744 DOI: 10.1002/Pd.4866 |
0.355 |
|
| 2016 |
Simon LM, Chen ES, Edelstein LC, Kong X, Bhatlekar S, Rigoutsos I, Bray PF, Shaw CA. Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2. American Journal of Human Genetics. 98: 883-897. PMID 27132591 DOI: 10.1016/J.Ajhg.2016.03.007 |
0.327 |
|
| 2016 |
James RA, Campbell IM, Chen ES, Boone PM, Rao MA, Bainbridge MN, Lupski JR, Yang Y, Eng CM, Posey JE, Shaw CA. A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Medicine. 8: 13. PMID 26838676 DOI: 10.1186/S13073-016-0261-8 |
0.343 |
|
| 2016 |
Cheung SW, Pursley AN, Ladha FA, Song RH, Anderson SA, Cooper ML, Shaw C, Bacino CA, Patel A. Unexpected Chromosomal Abnormalities Identified by CMA Confirmation Studies Cancer Genetics and Cytogenetics. 209: 239. DOI: 10.1016/J.Cancergen.2016.05.033 |
0.302 |
|
| 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 |
0.337 |
|
| 2015 |
Hsu TY, Simon LM, Neill NJ, Marcotte R, Sayad A, Bland CS, Echeverria GV, Sun T, Kurley SJ, Tyagi S, Karlin KL, Dominguez-Vidaña R, Hartman JD, Renwick A, Scorsone K, ... ... Shaw CA, et al. The spliceosome is a therapeutic vulnerability in MYC-driven cancer. Nature. PMID 26331541 DOI: 10.1038/Nature14985 |
0.313 |
|
| 2015 |
Probst FJ, James RA, Burrage LC, Rosenfeld JA, Bohan TP, Ward Melver CH, Magoulas P, Austin E, Franklin AI, Azamian M, Xia F, Patel A, Bi W, Bacino C, Belmont JW, ... ... Shaw C, et al. De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. Orphanet Journal of Rare Diseases. 10: 75. PMID 26070612 DOI: 10.1186/S13023-015-0291-0 |
0.36 |
|
| 2015 |
Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Somatic mosaicism: implications for disease and transmission genetics. Trends in Genetics : Tig. 31: 382-92. PMID 25910407 DOI: 10.1016/J.Tig.2015.03.013 |
0.336 |
|
| 2015 |
Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Human Molecular Genetics. 24: 4061-77. PMID 25908615 DOI: 10.1093/Hmg/Ddv146 |
0.375 |
|
| 2015 |
Chen L, Chen K, Lavery LA, Baker SA, Shaw CA, Li W, Zoghbi HY. MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proceedings of the National Academy of Sciences of the United States of America. 112: 5509-14. PMID 25870282 DOI: 10.1073/Pnas.1505909112 |
0.311 |
|
| 2015 |
Carvalho CM, Pfundt R, King DA, Lindsay SJ, Zuccherato LW, Macville MV, Liu P, Johnson D, Stankiewicz P, Brown CW, Shaw CA, Hurles ME, Ira G, Hastings PJ, et al. Absence of heterozygosity due to template switching during replicative rearrangements. American Journal of Human Genetics. 96: 555-64. PMID 25799105 DOI: 10.1016/J.Ajhg.2015.01.021 |
0.355 |
|
| 2015 |
Shaw CA, Campbell IM. Variant interpretation through Bayesian fusion of frequency and genomic knowledge. Genome Medicine. 7: 4. PMID 25632303 DOI: 10.1186/S13073-015-0129-3 |
0.325 |
|
| 2015 |
Startek M, Szafranski P, Gambin T, Campbell IM, Hixson P, Shaw CA, Stankiewicz P, Gambin A. Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination. Nucleic Acids Research. 43: 2188-98. PMID 25613453 DOI: 10.1093/Nar/Gku1394 |
0.323 |
|
| 2015 |
Kong X, Simon L, Leung K, Holinstat M, Shaw C, Bray PF, Edelstein LC. Identification of the Genetic Mechanism Responsible for Racially-Dimorphic Expression of the Thrombin-Receptor Regulator, Pctp Blood. 126: 415-415. DOI: 10.1182/Blood.V126.23.415.415 |
0.352 |
|
| 2015 |
Westbrook TF, Nair A, Sun T, Karlin KL, Kessler J, Migliaccio I, Nguyen DX, Bernardi RJ, Renwick A, Creighton CJ, Dephoure N, Gygi SP, Shaw CA, Gibbs R, Wheeler D, et al. Abstract P6-11-01: A broad spectrum therapeutic strategy for TNBC revealed by a new pathway that coordinates oncogenic RTKs Cancer Research. 75. DOI: 10.1158/1538-7445.Sabcs14-P6-11-01 |
0.302 |
|
| 2015 |
Xu X, Nardone A, Hu H, Qin L, Nanda S, Heiser LM, Wang N, Covington KR, Chen ES, Renwick A, Wang T, Angelis CD, Contreras A, Gutierrez C, Fuqua SA, ... ... Shaw C, et al. Abstract P5-05-03: Clonal evolution of the HER2 L755S mutation leads to acquired HER-targeted therapy resistance that can be reversed by the irreversible HER1/2 inhibitor afatinib Cancer Research. 75. DOI: 10.1158/1538-7445.Sabcs14-P5-05-03 |
0.303 |
|
| 2015 |
Giuliano M, Herrera S, Christiny P, Shaw C, Creighton CJ, Mitchell T, Bhat R, Zhang X, Mao S, Dobrolecki L, Al-rawi A, Chen F, Veneziani BM, Zhang XH, Hilsenbeck SG, et al. Abstract P4-01-06: Circulating and disseminated tumor cells from breast cancer patient-derived xenograft-bearing mice as a novel model to study metastasis Cancer Research. 75. DOI: 10.1158/1538-7445.Sabcs14-P4-01-06 |
0.302 |
|
| 2014 |
Campbell IM, Gambin T, Dittwald P, Beck CR, Shuvarikov A, Hixson P, Patel A, Gambin A, Shaw CA, Rosenfeld JA, Stankiewicz P. Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination. Bmc Biology. 12: 74. PMID 25246103 DOI: 10.1186/S12915-014-0074-4 |
0.349 |
|
| 2014 |
Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wiśniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, ... ... Shaw CA, et al. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. American Journal of Human Genetics. 95: 173-82. PMID 25087610 DOI: 10.1016/J.Ajhg.2014.07.003 |
0.307 |
|
| 2014 |
Bayer DK, Martinez CA, Sorte HS, Forbes LR, Demmler-Harrison GJ, Hanson IC, Pearson NM, Noroski LM, Zaki SR, Bellini WJ, Leduc MS, Yang Y, Eng CM, Patel A, Rodningen OK, ... ... Shaw CA, et al. Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. Clinical and Experimental Immunology. 178: 459-69. PMID 25046553 DOI: 10.1111/Cei.12421 |
0.339 |
|
| 2014 |
Putluri N, Maity S, Kommagani R, Kommangani R, Creighton CJ, Putluri V, Chen F, Nanda S, Bhowmik SK, Terunuma A, Dorsey T, Nardone A, Fu X, Shaw C, Sarkar TR, et al. Pathway-centric integrative analysis identifies RRM2 as a prognostic marker in breast cancer associated with poor survival and tamoxifen resistance. Neoplasia (New York, N.Y.). 16: 390-402. PMID 25016594 DOI: 10.1016/J.Neo.2014.05.007 |
0.322 |
|
| 2014 |
Galloway JN, Shaw C, Yu P, Parghi D, Poidevin M, Jin P, Nelson DL. CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome. Human Molecular Genetics. 23: 5906-15. PMID 24986919 DOI: 10.1093/Hmg/Ddu314 |
0.316 |
|
| 2014 |
Sakai Y, Souzaki R, Yamamoto H, Matsushita Y, Nagata H, Ishizaki Y, Torisu H, Oda Y, Taguchi T, Shaw CA, Hara T. Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome. Bmc Medical Genomics. 7: 19. PMID 24755370 DOI: 10.1186/1755-8794-7-19 |
0.346 |
|
| 2014 |
Pham J, Shaw C, Pursley A, Hixson P, Sampath S, Roney E, Gambin T, Kang SH, Bi W, Lalani S, Bacino C, Lupski JR, Stankiewicz P, Patel A, Cheung SW. Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. European Journal of Human Genetics : Ejhg. 22: 969-78. PMID 24398791 DOI: 10.1038/Ejhg.2013.285 |
0.36 |
|
| 2014 |
Bartnik M, Nowakowska B, Derwińska K, Wiśniowiecka-Kowalnik B, Kędzior M, Bernaciak J, Ziemkiewicz K, Gambin T, Sykulski M, Bezniakow N, Korniszewski L, Kutkowska-Kaźmierczak A, Klapecki J, Szczałuba K, Shaw CA, et al. Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability. Journal of Applied Genetics. 55: 125-44. PMID 24297458 DOI: 10.1007/S13353-013-0181-X |
0.388 |
|
| 2014 |
Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, Bock HG, Descartes M, Probst FJ, Scaglia F, Beaudet AL, et al. Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. European Journal of Human Genetics : Ejhg. 22: 79-87. PMID 23695279 DOI: 10.1038/Ejhg.2013.77 |
0.343 |
|
| 2014 |
Edelstein LC, Simon LM, Lindsay CR, Kong X, Montoya RT, Tourdot BE, Chen E, Ma L, Coughlin SR, Nieman MT, Holinstat M, Shaw C, Bray PF. Identification of a Racially Dimorphic Variant in the Human Platelet PAR4 Thrombin Receptor Altering Platelet Function and Pharmacologic Inhibition Blood. 124: 1434-1434. DOI: 10.1182/Blood.V124.21.1434.1434 |
0.313 |
|
| 2013 |
Campbell IM, Rao M, Arredondo SD, Lalani SR, Xia Z, Kang SH, Bi W, Breman AM, Smith JL, Bacino CA, Beaudet AL, Patel A, Cheung SW, Lupski JR, Stankiewicz P, ... ... Shaw CA, et al. Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. Plos Genetics. 9: e1003797. PMID 24086149 DOI: 10.1371/Journal.Pgen.1003797 |
0.363 |
|
| 2013 |
Harrison SM, Campbell IM, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA. Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. American Journal of Medical Genetics. Part A. 161: 2487-94. PMID 23918653 DOI: 10.1002/Ajmg.A.36084 |
0.366 |
|
| 2013 |
Sakai Y, Ohkubo K, Matsushita Y, Akamine S, Ishizaki Y, Torisu H, Ihara K, Sanefuji M, Kim MS, Lee KU, Shaw CA, Lim J, Nakabeppu Y, Hara T. Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus. European Journal of Medical Genetics. 56: 475-83. PMID 23832106 DOI: 10.1016/J.Ejmg.2013.06.009 |
0.341 |
|
| 2013 |
Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, et al. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. American Journal of Human Genetics. 93: 197-210. PMID 23810381 DOI: 10.1016/J.Ajhg.2013.05.027 |
0.316 |
|
| 2013 |
Boone PM, Campbell IM, Baggett BC, Soens ZT, Rao MM, Hixson PM, Patel A, Bi W, Cheung SW, Lalani SR, Beaudet AL, Stankiewicz P, Shaw CA, Lupski JR. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Research. 23: 1383-94. PMID 23685542 DOI: 10.1101/Gr.156075.113 |
0.368 |
|
| 2013 |
Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, RodrÃguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, ... ... Shaw CA, et al. NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Research. 23: 1395-409. PMID 23657883 DOI: 10.1101/Gr.152454.112 |
0.398 |
|
| 2013 |
Kahle JJ, Souroullas GP, Yu P, Zohren F, Lee Y, Shaw CA, Zoghbi HY, Goodell MA. Ataxin1L is a regulator of HSC function highlighting the utility of cross-tissue comparisons for gene discovery. Plos Genetics. 9: e1003359. PMID 23555280 DOI: 10.1371/Journal.Pgen.1003359 |
0.336 |
|
| 2013 |
Harris RA, Shaw C, Li J, Cheung SW, Coarfa C, Jeong M, Goodell MA, White LD, Patel A, Kang SH, Chinault AC, Gambin T, Gambin A, Lupski JR, Milosavljevic A. Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability. Plos Genetics. 9: e1003333. PMID 23468659 DOI: 10.1371/Journal.Pgen.1003333 |
0.304 |
|
| 2013 |
Bi W, Borgan C, Pursley AN, Hixson P, Shaw CA, Bacino CA, Lalani SR, Patel A, Stankiewicz P, Lupski JR, Beaudet AL, Cheung SW. Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 450-7. PMID 23238528 DOI: 10.1038/Gim.2012.152 |
0.339 |
|
| 2013 |
Wiśniowiecka-Kowalnik B, Kastory-Bronowska M, Bartnik M, Derwińska K, Dymczak-Domini W, Szumbarska D, Ziemka E, Szczałuba K, Sykulski M, Gambin T, Gambin A, Shaw CA, Mazurczak T, Obersztyn E, Bocian E, et al. Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders. European Journal of Human Genetics : Ejhg. 21: 620-5. PMID 23032108 DOI: 10.1038/Ejhg.2012.219 |
0.361 |
|
| 2013 |
Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, et al. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. European Journal of Human Genetics : Ejhg. 21: 173-81. PMID 22929023 DOI: 10.1038/Ejhg.2012.155 |
0.379 |
|
| 2013 |
Boone PM, Soens ZT, Campbell IM, Stankiewicz P, Cheung SW, Patel A, Beaudet AL, Plon SE, Shaw CA, McGuire AL, Lupski JR. Incidental copy-number variants identified by routine genome testing in a clinical population. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 45-54. PMID 22878507 DOI: 10.1038/Gim.2012.95 |
0.311 |
|
| 2013 |
Edelstein LC, Simon LM, Montoya RT, Holinstat M, Chen E, Woodley AB, Kong X, Nagalla S, Mohandas N, Cohen D, Dong J, Shaw CA, Bray PF. Racial Differences In Thrombin-Induced Human Platelet PAR4 Reactivity Blood. 122: 1054-1054. DOI: 10.1182/Blood.V122.21.1054.1054 |
0.305 |
|
| 2012 |
Li Y, Shaw CA, Sheffer I, Sule N, Powell SZ, Dawson B, Zaidi SN, Bucasas KL, Lupski JR, Wilhelmsen KC, Doody R, Szigeti K. Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease. Translational Psychiatry. 2: e192. PMID 23168992 DOI: 10.1038/Tp.2012.119 |
0.316 |
|
| 2012 |
Bartnik M, Szczepanik E, Derwińska K, Wiśniowiecka-Kowalnik B, Gambin T, Sykulski M, Ziemkiewicz K, Kędzior M, Gos M, Hoffman-Zacharska D, Mazurczak T, Jeziorek A, Antczak-Marach D, Rudzka-Dybała M, Mazurkiewicz H, ... ... Shaw CA, et al. Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 159: 760-71. PMID 22825934 DOI: 10.1002/Ajmg.B.32081 |
0.381 |
|
| 2012 |
Li J, Harris RA, Cheung SW, Coarfa C, Jeong M, Goodell MA, White LD, Patel A, Kang SH, Shaw C, Chinault AC, Gambin T, Gambin A, Lupski JR, Milosavljevic A. Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome. Plos Genetics. 8: e1002692. PMID 22615578 DOI: 10.1371/Journal.Pgen.1002692 |
0.356 |
|
| 2012 |
Bi W, Breman A, Shaw CA, Stankiewicz P, Gambin T, Lu X, Cheung SW, Jackson LG, Lupski JR, Van den Veyver IB, Beaudet AL. Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenatal Diagnosis. 32: 10-20. PMID 22470934 DOI: 10.1002/Pd.2855 |
0.354 |
|
| 2012 |
Baradaran-Heravi A, Cho KS, Tolhuis B, Sanyal M, Morozova O, Morimoto M, Elizondo LI, Bridgewater D, Lubieniecka J, Beirnes K, Myung C, Leung D, Fam HK, Choi K, Huang Y, ... ... Shaw C, et al. Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. Human Molecular Genetics. 21: 2572-87. PMID 22378147 DOI: 10.1093/Hmg/Dds083 |
0.335 |
|
| 2012 |
Kessler JD, Kahle KT, Sun T, Meerbrey KL, Schlabach MR, Schmitt EM, Skinner SO, Xu Q, Li MZ, Hartman ZC, Rao M, Yu P, Dominguez-Vidana R, Liang AC, Solimini NL, ... ... Shaw CA, et al. A SUMOylation-dependent transcriptional subprogram is required for Myc-driven tumorigenesis. Science (New York, N.Y.). 335: 348-53. PMID 22157079 DOI: 10.1126/Science.1212728 |
0.332 |
|
| 2012 |
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, ... ... Shaw CA, et al. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Human Mutation. 33: 165-79. PMID 21948486 DOI: 10.1002/Humu.21614 |
0.37 |
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| 2012 |
Edelstein LC, Simon LM, Chen E, Bergeron A, Kong X, Ma L, Teruel-Montoya R, Holinstat M, Nagalla S, Dong J, Shaw C, Bray PF. A Large Cluster of Micrornas At 14q32 Defines an RNA Expression Module That Accounts for Racial Differences in Protease Activated Receptor 4-Mediated Platelet Reactivity Blood. 120: 380-380. DOI: 10.1182/Blood.V120.21.380.380 |
0.304 |
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| 2012 |
Kessler JD, Kahle KT, Sun T, Meerbrey KL, Schlabach MR, Schmitt EM, Skinner SO, Xu Q, Li MZ, Hartman ZC, Rao M, Yu P, Dominguez-Vidana R, Liang AC, Solimini NL, ... ... Shaw CA, et al. Abstract 3091: A sumoylation-dependent transcriptional subprogram is required for Myc-driven tumorigenesis Cancer Research. 72: 3091-3091. DOI: 10.1158/1538-7445.Am2012-3091 |
0.313 |
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| 2012 |
Szigeti K, Li Y, Shaw C, Sheffer I, Sule N, Powell S, Zaidi N, Lupski J, Wilhelmsen K, Doody R. Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease Alzheimers & Dementia. 8: 672. DOI: 10.1016/J.Jalz.2012.05.1817 |
0.348 |
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| 2012 |
Cheung SW, Breman A, Pursley AN, Hixson P, Bi W, Ward P, Shaw C, Lupski JR, Van den Veyver I, Beaudet A, Patel A. 26: Prenatal array comparative genomic hybridization: when is it indicated and what sample is best? Our experience in over 1000 prenatal cases American Journal of Obstetrics and Gynecology. 206: S17. DOI: 10.1016/J.Ajog.2011.10.052 |
0.309 |
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| 2011 |
Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, et al. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Human Molecular Genetics. 20: 4360-70. PMID 21865298 DOI: 10.1093/Hmg/Ddr363 |
0.404 |
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| 2011 |
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, ... ... Shaw CA, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 70: 863-85. PMID 21658581 DOI: 10.1016/J.Neuron.2011.05.002 |
0.373 |
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| 2011 |
Sakai Y, Shaw CA, Dawson BC, Dugas DV, Al-Mohtaseb Z, Hill DE, Zoghbi HY. Protein interactome reveals converging molecular pathways among autism disorders. Science Translational Medicine. 3: 86ra49. PMID 21653829 DOI: 10.1126/Scitranslmed.3002166 |
0.323 |
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| 2011 |
Ou Z, Stankiewicz P, Xia Z, Breman AM, Dawson B, Wiszniewska J, Szafranski P, Cooper ML, Rao M, Shao L, South ST, Coleman K, Fernhoff PM, Deray MJ, Rosengren S, ... ... Shaw CA, et al. Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Research. 21: 33-46. PMID 21205869 DOI: 10.1101/Gr.111609.110 |
0.318 |
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| 2010 |
Ramocki MB, Bartnik M, Szafranski P, Kołodziejska KE, Xia Z, Bravo J, Miller GS, Rodriguez DL, Williams CA, Bader PI, Szczepanik E, Mazurczak T, Antczak-Marach D, Coldwell JG, Akman CI, ... ... Shaw CA, et al. Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. American Journal of Human Genetics. 87: 857-65. PMID 21109226 DOI: 10.1016/J.Ajhg.2010.10.019 |
0.345 |
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| 2010 |
Tannour-Louet M, Han S, Corbett ST, Louet JF, Yatsenko S, Meyers L, Shaw CA, Kang SH, Cheung SW, Lamb DJ. Identification of de novo copy number variants associated with human disorders of sexual development. Plos One. 5: e15392. PMID 21048976 DOI: 10.1371/Journal.Pone.0015392 |
0.374 |
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| 2010 |
Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, et al. Detection of clinically relevant exonic copy-number changes by array CGH. Human Mutation. 31: 1326-42. PMID 20848651 DOI: 10.1002/Humu.21360 |
0.371 |
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| 2010 |
Shao L, Kang SH, Li J, Hixson P, Taylor J, Yatsenko SA, Shaw CA, Milosavljevic A, Chang CC, Cheung SW, Patel A. Array comparative genomic hybridization detects chromosomal abnormalities in hematological cancers that are not detected by conventional cytogenetics. The Journal of Molecular Diagnostics : Jmd. 12: 670-9. PMID 20724749 DOI: 10.2353/Jmoldx.2010.090192 |
0.37 |
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| 2010 |
Crespo-Barreto J, Fryer JD, Shaw CA, Orr HT, Zoghbi HY. Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. Plos Genetics. 6: e1001021. PMID 20628574 DOI: 10.1371/Journal.Pgen.1001021 |
0.323 |
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| 2010 |
Kang SH, Shaw C, Ou Z, Eng PA, Cooper ML, Pursley AN, Sahoo T, Bacino CA, Chinault AC, Stankiewicz P, Patel A, Lupski JR, Cheung SW. Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. American Journal of Medical Genetics. Part A. 152: 1111-26. PMID 20340098 DOI: 10.1002/Ajmg.A.33278 |
0.358 |
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| 2010 |
Jin Y, Covarrubias D, Kondkar AA, Nagalla S, Luna EJ, Bray MS, Shaw C, Leal SM, Bray PF. Genetic Variants In Platelet Supervillin but Not Archvillin Are Associated with PFA-100 Closure Times In African Americans Blood. 116: 4311-4311. DOI: 10.1182/Blood.V116.21.4311.4311 |
0.335 |
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| 2009 |
Chinault AC, Shaw CA, Brundage EK, Tang LY, Wong LJ. Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 11: 518-26. PMID 19546809 DOI: 10.1097/Gim.0B013E3181Abd83C |
0.323 |
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| 2009 |
Ben-Shachar S, Chahrour M, Thaller C, Shaw CA, Zoghbi HY. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Human Molecular Genetics. 18: 2431-42. PMID 19369296 DOI: 10.1093/Hmg/Ddp181 |
0.334 |
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| 2009 |
Yatsenko SA, Shaw CA, Ou Z, Pursley AN, Patel A, Bi W, Cheung SW, Lupski JR, Chinault AC, Beaudet AL. Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA. The Journal of Molecular Diagnostics : Jmd. 11: 226-37. PMID 19324990 DOI: 10.2353/Jmoldx.2009.080064 |
0.311 |
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| 2009 |
Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, et al. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Human Molecular Genetics. 18: 2188-203. PMID 19324899 DOI: 10.1093/Hmg/Ddp151 |
0.37 |
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| 2009 |
Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, et al. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenatal Diagnosis. 29: 29-39. PMID 19012303 DOI: 10.1002/Pd.2127 |
0.352 |
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| 2009 |
Bi W, Lu X, Shaw C, Patel A, Wiszniewska J, Eng C, Stankiewicz P, Lupski J, Cheung SW, Beaudet A, Van Den Veyver I. 708: Oligo-based array CGH on a single cell - the way toward noninvasive prenatal diagnosis of genomic imbalance American Journal of Obstetrics and Gynecology. 201: S256-S257. DOI: 10.1016/J.Ajog.2009.10.725 |
0.331 |
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| 2008 |
Lu XY, Phung MT, Shaw CA, Pham K, Neil SE, Patel A, Sahoo T, Bacino CA, Stankiewicz P, Kang SH, Lalani S, Chinault AC, Lupski JR, Cheung SW, Beaudet AL. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics. 122: 1310-8. PMID 19047251 DOI: 10.1542/Peds.2008-0297 |
0.347 |
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| 2008 |
Shao L, Shaw CA, Lu XY, Sahoo T, Bacino CA, Lalani SR, Stankiewicz P, Yatsenko SA, Li Y, Neill S, Pursley AN, Chinault AC, Patel A, Beaudet AL, Lupski JR, et al. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. American Journal of Medical Genetics. Part A. 146: 2242-51. PMID 18663743 DOI: 10.1002/Ajmg.A.32399 |
0.365 |
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| 2008 |
Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science (New York, N.Y.). 320: 1224-9. PMID 18511691 DOI: 10.1126/Science.1153252 |
0.336 |
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| 2008 |
Ou Z, Kang SH, Shaw CA, Carmack CE, White LD, Patel A, Beaudet AL, Cheung SW, Chinault AC. Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 10: 278-89. PMID 18414211 DOI: 10.1097/Gim.0B013E31816B4420 |
0.349 |
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| 2008 |
Shinawi M, Shao L, Jeng LJ, Shaw CA, Patel A, Bacino C, Sutton VR, Belmont J, Cheung SW. Low-level mosaicism of trisomy 14: phenotypic and molecular characterization. American Journal of Medical Genetics. Part A. 146: 1395-405. PMID 18412278 DOI: 10.1002/Ajmg.A.32287 |
0.346 |
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| 2008 |
Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. American Journal of Human Genetics. 82: 214-21. PMID 18179902 DOI: 10.1016/J.Ajhg.2007.09.014 |
0.365 |
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| 2008 |
Patel A, Kang SH, Lennon PA, Li YF, Rao PN, Abruzzo L, Shaw C, Chinault AC, Cheung SW. Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemia. American Journal of Hematology. 83: 540-6. PMID 18161787 DOI: 10.1002/Ajh.21145 |
0.382 |
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| 2008 |
Van Den Veyver IB, Breman AM, Pursley AN, Bi W, White LD, Shaw CA, Lupski JR, Beaudet AL, Patel A, Cheung SW. 685: Prenatal detection of genomic imbalances in six days from uncultured amniocytes by targeted oligonucleotide array CGH American Journal of Obstetrics and Gynecology. 199: S195. DOI: 10.1016/J.Ajog.2008.09.715 |
0.303 |
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| 2007 |
Chambers SM, Boles NC, Lin KY, Tierney MP, Bowman TV, Bradfute SB, Chen AJ, Merchant AA, Sirin O, Weksberg DC, Merchant MG, Fisk CJ, Shaw CA, Goodell MA. Hematopoietic fingerprints: an expression database of stem cells and their progeny. Cell Stem Cell. 1: 578-91. PMID 18371395 DOI: 10.1016/J.Stem.2007.10.003 |
0.308 |
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| 2007 |
Visel A, Carson J, Oldekamp J, Warnecke M, Jakubcakova V, Zhou X, Shaw CA, Alvarez-Bolado G, Eichele G. Regulatory pathway analysis by high-throughput in situ hybridization. Plos Genetics. 3: 1867-83. PMID 17953485 DOI: 10.1371/Journal.Pgen.0030178 |
0.307 |
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| 2007 |
Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, et al. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. American Journal of Medical Genetics. Part A. 143: 1679-86. PMID 17607705 DOI: 10.1002/Ajmg.A.31740 |
0.36 |
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| 2007 |
Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU. Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. European Journal of Human Genetics : Ejhg. 15: 943-9. PMID 17522620 DOI: 10.1038/Sj.Ejhg.5201859 |
0.399 |
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| 2007 |
Probst FJ, Roeder ER, Enciso VB, Ou Z, Cooper ML, Eng P, Li J, Gu Y, Stratton RF, Chinault AC, Shaw CA, Sutton VR, Cheung SW, Nelson DL. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. American Journal of Medical Genetics. Part A. 143: 1358-65. PMID 17506108 DOI: 10.1002/Ajmg.A.31781 |
0.374 |
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| 2007 |
Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, Sullivan CM, Sahoo T, Yatsenko SA, Bacino CA, Stankiewicz P, Ou Z, Chinault AC, Beaudet AL, Lupski JR, et al. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. Plos One. 2: e327. PMID 17389918 DOI: 10.1371/Journal.Pone.0000327 |
0.366 |
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| 2007 |
Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, et al. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. American Journal of Human Genetics. 80: 633-49. PMID 17357070 DOI: 10.1086/512864 |
0.336 |
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| 2007 |
Kustikova OS, Geiger H, Li Z, Brugman MH, Chambers SM, Shaw CA, Pike-Overzet K, de Ridder D, Staal FJ, von Keudell G, Cornils K, Nattamai KJ, Modlich U, Wagemaker G, Goodell MA, et al. Retroviral vector insertion sites associated with dominant hematopoietic clones mark "stemness" pathways. Blood. 109: 1897-907. PMID 17119121 DOI: 10.1182/Blood-2006-08-044156 |
0.323 |
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| 2006 |
Sahoo T, Cheung SW, Ward P, Darilek S, Patel A, del Gaudio D, Kang SH, Lalani SR, Li J, McAdoo S, Burke A, Shaw CA, Stankiewicz P, Chinault AC, Van den Veyver IB, et al. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 8: 719-27. PMID 17108764 DOI: 10.1097/01.Gim.0000245576.47154.63 |
0.34 |
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| 2006 |
Ramos CA, Bowman TA, Boles NC, Merchant AA, Zheng Y, Parra I, Fuqua SA, Shaw CA, Goodell MA. Evidence for diversity in transcriptional profiles of single hematopoietic stem cells. Plos Genetics. 2: e159. PMID 17009876 DOI: 10.1371/Journal.Pgen.0020159 |
0.312 |
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| 2006 |
Peiffer DA, Le JM, Steemers FJ, Chang W, Jenniges T, Garcia F, Haden K, Li J, Shaw CA, Belmont J, Cheung SW, Shen RM, Barker DL, Gunderson KL. High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Research. 16: 1136-48. PMID 16899659 DOI: 10.1101/Gr.5402306 |
0.345 |
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| 2006 |
Ou Z, Jarmuz M, Sparagana SP, Michaud J, Décarie JC, Yatsenko SA, Nowakowska B, Furman P, Shaw CA, Shaffer LG, Lupski JR, Chinault AC, Cheung SW, Stankiewicz P. Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. Human Genetics. 120: 227-37. PMID 16791615 DOI: 10.1007/S00439-006-0200-7 |
0.326 |
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| 2006 |
Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Human Molecular Genetics. 15: 2250-65. PMID 16774974 DOI: 10.1093/Hmg/Ddl150 |
0.377 |
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| 2005 |
Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL. Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. American Journal of Medical Genetics. Part A. 139: 106-13. PMID 16284940 DOI: 10.1002/Ajmg.A.31000 |
0.353 |
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| 2005 |
Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Human Molecular Genetics. 14: 3723-40. PMID 16254002 DOI: 10.1093/Hmg/Ddi403 |
0.308 |
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| 2005 |
Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL. Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 7: 422-32. PMID 16024975 DOI: 10.1097/01.Gim.0000170992.63691.32 |
0.35 |
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| 2004 |
Venezia TA, Merchant AA, Ramos CA, Whitehouse NL, Young AS, Shaw CA, Goodell MA. Molecular signatures of proliferation and quiescence in hematopoietic stem cells. Plos Biology. 2: e301. PMID 15459755 DOI: 10.1371/Journal.Pbio.0020301 |
0.301 |
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| 2004 |
Katoh M, Shaw C, Xu Q, Driessche NV, Morio T, Kuwayama H, Obara S, Urushihara H, Tanaka Y, Shaulsky G. An orderly retreat: Dedifferentiation is a regulated process Proceedings of the National Academy of Sciences of the United States of America. 101: 7005-7010. PMID 15103019 DOI: 10.1073/Pnas.0306983101 |
0.303 |
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| 2004 |
Shaw CJ, Stankiewicz P, Bien-Willner G, Bello SC, Shaw CA, Carrera M, Perez Jurado L, Estivill X, Lupski JR. Small marker chromosomes in two patients with segmental aneusomy for proximal 17p. Human Genetics. 115: 1-7. PMID 15098121 DOI: 10.1007/S00439-004-1119-5 |
0.313 |
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| 2004 |
Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR. Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. Journal of Medical Genetics. 41: 113-9. PMID 14757858 DOI: 10.1136/Jmg.2003.012831 |
0.329 |
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| 2003 |
Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions Human Molecular Genetics. 12: 2153-2165. PMID 12915474 DOI: 10.1093/Hmg/Ddg231 |
0.347 |
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| 2003 |
Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Human Molecular Genetics. 12: 2145-52. PMID 12915473 DOI: 10.1093/Hmg/Ddg230 |
0.371 |
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| 2003 |
Good JR, Cabral M, Sharma S, Yang J, Van Driessche N, Shaw CA, Shaulsky G, Kuspa A. TagA, a putative serine protease/ABC transporter of Dictyostelium that is required for cell fate determination at the onset of development Development. 130: 2953-2965. PMID 12756178 DOI: 10.1242/Dev.00523 |
0.31 |
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| 2003 |
Yao H, Kristensen DM, Mihalek I, Sowa ME, Shaw C, Kimmel M, Kavraki L, Lichtarge O. An accurate, sensitive, and scalable method to identify functional sites in protein structures. Journal of Molecular Biology. 326: 255-61. PMID 12547207 DOI: 10.1016/S0022-2836(02)01336-0 |
0.487 |
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