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James Lupski - Publications

Affiliations: 
Molecular and Human Genetics Baylor College of Medicine, Houston, TX 
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321 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Grochowski CM, Bengtsson JD, Du H, Gandhi M, Lun MY, Mehaffey MG, Park K, Höps W, Benito E, Hasenfeld P, Korbel JO, Mahmoud M, Paulin LF, Jhangiani SN, Hwang JP, ... ... Lupski JR, et al. Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci. Cell Genomics. 100590. PMID 38908378 DOI: 10.1016/j.xgen.2024.100590  0.388
2024 Bozkurt-Yozgatli T, Pehlivan D, Gibbs RA, Sezerman U, Posey JE, Lupski JR, Coban-Akdemir Z. Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders. Bmc Medical Genomics. 17: 85. PMID 38622594 DOI: 10.1186/s12920-024-01852-4  0.336
2024 Lupski J, Dardas Z, Marafi D, Duan R, Fatih J, El-Rashidy O, Grochowski C, Carvalho C, Jhangiani S, Bi W, Du H, Gibbs R, Posey J, Calame D, Zaki M. Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32. Research Square. PMID 38464263 DOI: 10.21203/rs.3.rs-3949622/v1  0.341
2024 Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, ... ... Lupski JR, et al. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. American Journal of Human Genetics. PMID 38325380 DOI: 10.1016/j.ajhg.2024.01.007  0.327
2024 Dharmadhikari AV, Abad MA, Khan S, Maroofian R, Sands TT, Ullah F, Samejima I, Wear MA, Moore KE, Kondakova E, Mitina N, Schaub T, Lee GK, Umandap CH, Berger SM, ... ... Lupski JR, et al. RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS. Medrxiv : the Preprint Server For Health Sciences. PMID 38260255 DOI: 10.1101/2024.01.09.23300329  0.34
2024 Poli MC, Rebolledo-Jaramillo B, Lagos C, Orellana J, Moreno G, Martín LM, Encina G, Böhme D, Faundes V, Zavala MJ, Hasbún T, Fischer S, Brito F, Araya D, Lira M, ... ... Lupski JR, et al. Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile. European Journal of Human Genetics : Ejhg. PMID 38177409 DOI: 10.1038/s41431-023-01523-5  0.344
2023 Du H, Dardas Z, Jolly A, Grochowski CM, Jhangiani SN, Li H, Muzny D, Fatih JM, Yesil G, Elçioglu NH, Gezdirici A, Marafi D, Pehlivan D, Calame DG, Carvalho CMB, ... ... Lupski JR, et al. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Research. PMID 38153174 DOI: 10.1093/nar/gkad1223  0.373
2023 Bhola PT, Mishra R, Posey JE, Hamilton LE, Graham GE, Punetha J, Lupski JR, Boycott KM, D'Amours D, Kernohan KD. Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature. American Journal of Medical Genetics. Part A. PMID 37921537 DOI: 10.1002/ajmg.a.63455  0.301
2023 Grochowski CM, Bengtsson JD, Du H, Gandhi M, Lun MY, Mehaffey MG, Park K, Höps W, Benito-Garagorri E, Hasenfeld P, Korbel JO, Mahmoud M, Paulin LF, Jhangiani SN, Muzny DM, ... ... Lupski JR, et al. Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures. Biorxiv : the Preprint Server For Biology. PMID 37873367 DOI: 10.1101/2023.10.02.560172  0.354
2023 Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, ... ... Lupski JR, et al. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. American Journal of Human Genetics. PMID 37467750 DOI: 10.1016/j.ajhg.2023.06.013  0.347
2023 Jolly A, Du H, Borel C, Chen N, Zhao S, Grochowski CM, Duan R, Fatih JM, Dawood M, Salvi S, Jhangiani SN, Muzny DM, Koch A, Rouskas K, Glentis S, ... ... Lupski JR, et al. Rare variant enrichment analysis supports as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome. Hgg Advances. 4: 100188. PMID 37124138 DOI: 10.1016/j.xhgg.2023.100188  0.329
2023 Zemet R, Du H, Gambin T, Lupski JR, Liu P, Stankiewicz P. SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia. Human Genetics. PMID 37031326 DOI: 10.1007/s00439-023-02550-4  0.37
2023 Zemet R, Du H, Gambin T, Liu P, Lupski JR, Stankiewicz PÇ. SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia. Research Square. PMID 36909564 DOI: 10.21203/rs.3.rs-2628288/v1  0.364
2023 Dawood M, Akay G, Mitani T, Marafi D, Fatih JM, Gezdirici A, Najmabadi H, Kahrizi K, Punetha J, Grochowski CM, Du H, Jolly A, Li H, Coban-Akdemir Z, Sedlazeck FJ, ... ... Lupski JR, et al. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American Journal of Medical Genetics. Part A. PMID 36598158 DOI: 10.1002/ajmg.a.63080  0.323
2022 Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, ... ... Lupski JR, et al. TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. American Journal of Human Genetics. PMID 36368327 DOI: 10.1016/j.ajhg.2022.10.007  0.351
2022 Du H, Jolly A, Grochowski CM, Yuan B, Dawood M, Jhangiani SN, Li H, Muzny D, Fatih JM, Coban-Akdemir Z, Carlin ME, Scheuerle AE, Witzl K, Posey JE, Pendleton M, ... ... Lupski JR, et al. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. Genome Medicine. 14: 122. PMID 36303224 DOI: 10.1186/s13073-022-01123-w  0.401
2022 Yuan B, Schulze KV, Assia Batzir N, Sinson J, Dai H, Zhu W, Bocanegra F, Fong CT, Holder J, Nguyen J, Schaaf CP, Yang Y, Bi W, Eng C, Shaw C, ... Lupski JR, et al. Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. Genome Medicine. 14: 113. PMID 36180924 DOI: 10.1186/s13073-022-01113-y  0.361
2022 Chander V, Mahmoud M, Hu J, Dardas Z, Grochowski CM, Dawood M, Khayat MM, Li H, Li S, Jhangiani S, Korchina V, Shen H, Weissenberger G, Meng Q, Gingras MC, ... ... Lupski JR, et al. Long Read Sequencing and Expression Studies of AHDC1 Deletions in Xia-Gibbs Syndrome Reveal a Novel Genetic Regulatory Mechanism. Human Mutation. PMID 36054313 DOI: 10.1002/humu.24461  0.351
2022 Duan R, Hijazi H, Gulec EY, Eker HK, Costa SR, Sahin Y, Ocak Z, Isikay S, Ozalp O, Bozdogan S, Aslan H, Elcioglu N, Bertola DR, Gezdirici A, Du H, ... ... Lupski JR, et al. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability. Hgg Advances. 3: 100132. PMID 36035248 DOI: 10.1016/j.xhgg.2022.100132  0.352
2022 Calame DG, Herman I, Maroofian R, Marshall AE, Carvalho Donis K, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa S, Gijavanekar C, Bakhtiari S, Ito YA, Rocca C, Hunter JV, ... ... Lupski JR, et al. Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, distinct white matter abnormalities, and spastic paraplegia. Annals of Neurology. PMID 35471564 DOI: 10.1002/ana.26381  0.328
2022 Lupski JR. Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine. Trends in Genetics : Tig. 38: 554-571. PMID 35450748 DOI: 10.1016/j.tig.2022.03.001  0.325
2022 Yanovsky-Dagan S, Frumkin A, Lupski JR, Harel T. CRISPR/Cas9-induced gene conversion between paralogs. Hgg Advances. 3: 100092. PMID 35199044 DOI: 10.1016/j.xhgg.2022.100092  0.372
2022 Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, ... ... Lupski JR, et al. Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 35148959 DOI: 10.1016/j.gim.2021.12.005  0.328
2021 Chen CA, Lattier J, Zhu W, Rosenfeld J, Wang L, Scott TM, Du H, Patel V, Dang A, Magoulas P, Streff H, Sebastian J, Svihovec S, Curry K, Delgado MR, ... ... Lupski JR, et al. Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34906496 DOI: 10.1016/j.gim.2021.09.017  0.324
2021 Herman I, Jolly A, Du H, Dawood M, Abdel-Salam GMH, Marafi D, Mitani T, Calame DG, Coban-Akdemir Z, Fatih JM, Hegazy I, Jhangiani SN, Gibbs RA, Pehlivan D, Posey JE, ... Lupski JR, et al. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. American Journal of Medical Genetics. Part A. PMID 34816580 DOI: 10.1002/ajmg.a.62565  0.341
2021 Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, ... ... Lupski JR, et al. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. American Journal of Human Genetics. 108: 1981-2005. PMID 34582790 DOI: 10.1016/j.ajhg.2021.08.009  0.336
2021 Grochowski CM, Krepischi ACV, Eisfeldt J, Du H, Bertola DR, Oliveira D, Costa SS, Lupski JR, Lindstrand A, Carvalho CMB. Chromoanagenesis Event Underlies a Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome. Frontiers in Genetics. 12: 708348. PMID 34512724 DOI: 10.3389/fgene.2021.708348  0.39
2021 Wohler E, Martin R, Griffith S, Rodrigues EDS, Antonescu C, Posey JE, Coban-Akdemir Z, Jhangiani SN, Doheny KF, Lupski JR, Valle D, Hamosh A, Sobreira N. PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. Orphanet Journal of Rare Diseases. 16: 365. PMID 34407837 DOI: 10.1186/s13023-021-01916-z  0.311
2021 Lupski JR. Clan genomics: From OMIM phenotypic traits to genes and biology. American Journal of Medical Genetics. Part A. PMID 34405553 DOI: 10.1002/ajmg.a.62434  0.315
2021 Li H, Dawood M, Khayat MM, Farek JR, Jhangiani SN, Khan ZM, Mitani T, Coban-Akdemir Z, Lupski JR, Venner E, Posey JE, Sabo A, Gibbs RA. Exome variant discrepancies due to reference genome differences. American Journal of Human Genetics. PMID 34129815 DOI: 10.1016/j.ajhg.2021.05.011  0.407
2021 Duan R, Saadi NW, Grochowski CM, Bhadila G, Faridoun A, Mitani T, Du H, Fatih JM, Jhangiani SN, Akdemir ZC, Gibbs RA, Pehlivan D, Posey JE, Marafi D, Lupski JR. A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. American Journal of Medical Genetics. Part A. PMID 33797191 DOI: 10.1002/ajmg.a.62192  0.332
2021 Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, ... ... Lupski JR, et al. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. American Journal of Human Genetics. PMID 33434492 DOI: 10.1016/j.ajhg.2020.12.014  0.331
2020 Zhang C, Mazzeu JF, Eisfeldt J, Grochowski CM, White J, Akdemir ZC, Jhangiani SN, Muzny DM, Gibbs RA, Lindstrand A, Lupski JR, Sutton VR, Carvalho CMB. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. American Journal of Medical Genetics. Part A. PMID 33048444 DOI: 10.1002/ajmg.a.61908  0.353
2020 Pettersson M, Grochowski CM, Wincent J, Eisfeldt J, Breman AM, Cheung SW, Krepischi ACV, Rosenberg C, Lupski JR, Ottosson J, Lovmar L, Gacic J, Lundberg ES, Nilsson D, Carvalho CMB, et al. Cytogenetically visible inversions are formed by multiple molecular mechanisms. Human Mutation. PMID 32906200 DOI: 10.1002/humu.24106  0.386
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, ... ... Lupski JR, et al. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease. Neurology. Genetics. 6: e498. PMID 32802956 DOI: 10.1212/Nxg.0000000000000498  0.34
2020 Yang N, Wu N, Dong S, Zhang L, Zhao Y, Chen W, Du R, Song C, Ren X, Liu J, Pehlivan D, Liu Z, Jia R, Wang C, Zhao S, ... ... Lupski JR, et al. Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome. Kidney International. PMID 32450157 DOI: 10.1016/J.Kint.2020.04.045  0.467
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, ... ... Lupski JR, 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  0.31
2020 Plesser Duvdevani M, Pettersson M, Eisfeldt J, Avraham O, Dagan J, Frumkin A, Lupski JR, Lindstrand A, Harel T. Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. American Journal of Medical Genetics. Part A. PMID 32125084 DOI: 10.1002/ajmg.a.61539  0.379
2020 Lloyd KCK, Adams DJ, Baynam G, Beaudet AL, Bosch F, Boycott KM, Braun RE, Caulfield M, Cohn R, Dickinson ME, Dobbie MS, Flenniken AM, Flicek P, Galande S, Gao X, ... ... Lupski JR, et al. The Deep Genome Project. Genome Biology. 21: 18. PMID 32008577 DOI: 10.1186/S13059-020-1931-9  0.33
2020 Gunning AC, Strucinska K, Muñoz Oreja M, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, Baptista J, Tysoe C, Baple E, Lahiri N, Homfray T, ... ... Lupski JR, et al. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. American Journal of Human Genetics. PMID 32004445 DOI: 10.1016/j.ajhg.2020.01.007  0.388
2020 Levy D, Morgan C, Bodkin JA, Coleman M, Godfrey L, Carvalho C, Grochowski C, Kaufman M, Jensen JE, TCW J, Brennand K, McCarthy S, Malhotra D, Sebat J, Goff D, ... Lupski J, et al. Partial Pharmacological “Rescue” and MRS spectroscopy in Two Carriers of a Rare Marker Chromosome Containing Extra Copies of the GLDC Gene Encoding a Glycine-Degrading Enzyme Implicate NMDA Receptor Hypofunction in Psychosis Biological Psychiatry. 87: S98-S99. DOI: 10.1016/J.Biopsych.2020.02.272  0.33
2019 Ren X, Yang N, Wu N, Xu X, Chen W, Zhang L, Li Y, Du RQ, Dong S, Zhao S, Chen S, Jiang LP, Wang L, Zhang J, Wu Z, ... ... Lupski JR, et al. Increased gene dosages induce congenital cervical vertebral malformations in humans and mice. Journal of Medical Genetics. PMID 31888956 DOI: 10.1136/Jmedgenet-2019-106333  0.469
2019 Bahrambeigi V, Song X, Sperle K, Beck CR, Hijazi H, Grochowski CM, Gu S, Seeman P, Woodward KJ, Carvalho CMB, Hobson GM, Lupski JR. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Medicine. 11: 80. PMID 31818324 DOI: 10.1186/S13073-019-0676-0  0.715
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, ... ... Lupski JR, et al. A Diagnostic Ceiling for Exome Sequencing in Cerebellar Ataxia and Related Neurological Disorders. Human Mutation. PMID 31692161 DOI: 10.1002/Humu.23946  0.309
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, ... ... Lupski JR, 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  0.315
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  0.328
2019 Chen W, Lin J, Wang L, Li X, Zhao S, Liu J, Akdemir ZC, Zhao Y, Du R, Ye Y, Song X, Zhang Y, Yan Z, Yang X, Lin M, ... ... Lupski JR, et al. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Human Mutation. PMID 31471994 DOI: 10.1002/Humu.23907  0.391
2019 Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, ... ... Lupski JR, et al. Xq22 deletions and correlation with distinct neurological disease traits in females: further evidence for a contiguous gene syndrome. Human Mutation. PMID 31448840 DOI: 10.1002/Humu.23902  0.453
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, ... ... Lupski JR, 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  0.32
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, ... ... Lupski JR, 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  0.334
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, ... ... Lupski JR, 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  0.415
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, ... ... Lupski JR, et al. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. PMID 30827684 DOI: 10.1016/J.Cell.2019.01.045  0.711
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, ... ... Lupski JR, 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  0.402
2019 Liu J, Wu N, Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, ... ... Lupski JR, et al. TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30636772 DOI: 10.1038/s41436-018-0377-x  0.375
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, ... ... Lupski JR, 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  0.329
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, ... ... Lupski J, et al. Genomic Characterization of a Pediatric Cohort with Non-Malignant Lymphoproliferative Disorders Blood. 134: 83-83. DOI: 10.1182/Blood-2019-131884  0.353
2018 Yang N, Wu N, Zhang L, Zhao Y, Liu J, Liang X, Ren X, Li W, Chen W, Dong S, Zhao S, Lin J, Xiang H, Xue H, Chen L, ... ... Lupski JR, et al. TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice. Human Molecular Genetics. PMID 30307510 DOI: 10.1093/Hmg/Ddy358  0.464
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, ... Lupski JR, 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  0.311
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, ... ... Lupski JR, 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  0.309
2018 Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, ... ... Lupski JR, et al. The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. Human Genetics. PMID 30019117 DOI: 10.1007/s00439-018-1910-3  0.34
2018 Song X, Beck CR, Du R, Campbell IM, Coban-Akdemir Z, Gu S, Breman AM, Stankiewicz P, Ira G, Shaw CA, Lupski JR. Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements. Genome Research. PMID 29907612 DOI: 10.1101/Gr.229401.117  0.699
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, ... Lupski JR, 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  0.301
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, ... ... Lupski JR, 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  0.343
2018 Grochowski CM, Gu S, Yuan B, Tcw J, Brennand KJ, Sebat J, Malhotra D, McCarthy S, Rudolph U, Lindstrand A, Chong Z, Levy DL, Lupski JR, Carvalho CMB. Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Human Mutation. PMID 29696747 DOI: 10.1002/Humu.23537  0.338
2018 Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, ... ... Lupski JR, et al. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. American Journal of Human Genetics. PMID 29656860 DOI: 10.1016/J.Ajhg.2018.03.004  0.322
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, ... ... Lupski JR, et al. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. PMID 29632024 DOI: 10.1182/Blood-2017-11-814244  0.327
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  0.351
2017 Harel T, Lupski JR. Genomic disorders 20 years on-mechanisms for clinical manifestations. Clinical Genetics. 93: 439-449. PMID 28950406 DOI: 10.1111/cge.13146  0.38
2017 Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, ... ... Lupski JR, et al. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Medicine. 9: 83. PMID 28934986 DOI: 10.1186/S13073-017-0472-7  0.344
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  0.331
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, ... ... Lupski JR, 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  0.326
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, ... ... Lupski JR, 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  0.309
2017 Chinn IK, Sanders RP, Stray-Pedersen A, Coban-Akdemir ZH, Kim VH, Dadi H, Roifman CM, Quigg T, Lupski JR, Orange JS, Hanson IC. Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168. Frontiers in Immunology. 8: 576. PMID 28603521 DOI: 10.3389/Fimmu.2017.00576  0.335
2017 Zhang L, Wang J, Zhang C, Li D, Carvalho CM, Ji H, Xiao J, Wu Y, Zhou W, Wang H, Jin L, Luo Y, Wu X, Lupski JR, Zhang F, et al. Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders. Human Molecular Genetics. PMID 28334874 DOI: 10.1093/Hmg/Ddx102  0.568
2017 Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AM, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, ... ... Lupski JR, et al. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Human Genetics. PMID 28251352 DOI: 10.1007/s00439-017-1763-1  0.319
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, ... ... Lupski JR, 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  0.429
2017 Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, ... ... Lupski JR, et al. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. American Journal of Human Genetics. PMID 28132692 DOI: 10.1016/J.Ajhg.2016.12.013  0.341
2016 Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, ... ... Lupski JR, et al. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. American Journal of Human Genetics. PMID 28017373 DOI: 10.1016/J.Ajhg.2016.11.012  0.306
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, ... ... Lupski JR, 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  0.341
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, ... ... Lupski JR, et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. The New England Journal of Medicine. PMID 27959697 DOI: 10.1056/Nejmoa1516767  0.327
2016 Gu S, Szafranski P, Akdemir ZC, Yuan B, Cooper ML, Magriñá MA, Bacino CA, Lalani SR, Breman AM, Smith JL, Patel A, Song RH, Bi W, Cheung SW, Carvalho CM, ... ... Lupski JR, et al. Mechanisms for Complex Chromosomal Insertions. Plos Genetics. 12: e1006446. PMID 27880765 DOI: 10.1371/Journal.Pgen.1006446  0.346
2016 Nilsson D, Pettersson M, Gustavsson P, Förster A, Hofmeister W, Wincent J, Zachariadis V, Anderlid BM, Nordgren A, Mäkitie O, Wirta V, Käller M, Vezzi F, Lupski JR, Nordenskjöld M, et al. Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. Human Mutation. PMID 27862604 DOI: 10.1002/humu.23146  0.409
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, ... ... Lupski JR, 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  0.655
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, ... ... Lupski JR, 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  0.673
2016 Lindstrand A, Frangakis S, Carvalho CM, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American Journal of Human Genetics. 99: 318-336. PMID 27486776 DOI: 10.1016/j.ajhg.2015.04.023  0.356
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, ... ... Lupski JR, 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  0.312
2016 Yuan B, Neira J, Gu S, Harel T, Liu P, Briceño I, Elsea SH, Gómez A, Potocki L, Lupski JR. Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Human Genetics. PMID 27386852 DOI: 10.1007/S00439-016-1703-5  0.402
2016 Yuan B, Liu P, Rogers J, Lupski JR. Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization. Genomics Data. 8: 106-9. PMID 27222811 DOI: 10.1016/j.gdata.2016.04.008  0.337
2016 Lupski JR. Clinical genomics: from a truly personal genome viewpoint. Human Genetics. 135: 591-601. PMID 27221143 DOI: 10.1007/s00439-016-1682-6  0.311
2016 Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, ... ... Lupski JR, et al. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Human Genetics. PMID 27071622 DOI: 10.1007/S00439-016-1655-9  0.363
2016 Carvalho CM, Lupski JR. Mechanisms underlying structural variant formation in genomic disorders. Nature Reviews. Genetics. PMID 26924765 DOI: 10.1038/nrg.2015.25  0.353
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, ... ... Lupski JR, et al. POGZ truncating alleles cause syndromic intellectual disability. Genome Medicine. 8: 3. PMID 26739615 DOI: 10.1186/S13073-015-0253-0  0.678
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  0.401
2016 Yuan B, Liu P, Rogers J, Lupski JR. Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization Genomics Data. 8: 106-109. DOI: 10.1016/j.gdata.2016.04.008  0.337
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  0.333
2015 Yuan B, Liu P, Gupta A, Beck CR, Tejomurtula A, Campbell IM, Gambin T, Simmons AD, Withers MA, Harris RA, Rogers J, Schwartz DC, Lupski JR. Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. Plos Genetics. 11: e1005686. PMID 26641089 DOI: 10.1371/Journal.Pgen.1005686  0.719
2015 Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Malan V, Munnich A, Magoulas PL, Potocki L, ... Lupski JR, et al. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. American Journal of Human Genetics. 97: 691-707. PMID 26544804 DOI: 10.1016/J.Ajhg.2015.10.003  0.734
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, ... ... Lupski JR, 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  0.311
2015 Lee W, Xie Y, Zernant J, Yuan B, Bearelly S, Tsang SH, Lupski JR, Allikmets R. Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes. Human Genetics. PMID 26527198 DOI: 10.1007/S00439-015-1605-Y  0.346
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, ... ... Lupski JR, 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  0.663
2015 Mayle R, Campbell IM, Beck CR, Yu Y, Wilson M, Shaw CA, Bjergbaek L, Lupski JR, Ira G. DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage. Science (New York, N.Y.). 349: 742-7. PMID 26273056 DOI: 10.1126/Science.Aaa8391  0.672
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, ... ... Lupski JR, 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  0.33
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  0.334
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, ... ... Lupski JR, 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  0.343
2015 Zhang F, Lupski JR. Non-coding genetic variants in human disease. Human Molecular Genetics. PMID 26152199 DOI: 10.1093/Hmg/Ddv259  0.327
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  0.304
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  0.723
2015 Lupski JR. Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environmental and Molecular Mutagenesis. 56: 419-36. PMID 25892534 DOI: 10.1002/em.21943  0.411
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  0.706
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, ... ... Lupski JR, 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  0.703
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, ... ... Lupski JR, 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  0.311
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, ... ... Lupski JR, 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  0.361
2015 Beck CR, Carvalho CM, Banser L, Gambin T, Stubbolo D, Yuan B, Sperle K, McCahan SM, Henneke M, Seeman P, Garbern JY, Hobson GM, Lupski JR. Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. Plos Genetics. 11: e1005050. PMID 25749076 DOI: 10.1371/journal.pgen.1005050  0.714
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, ... ... Lupski JR, 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  0.668
2015 Chen L, Zhou W, Zhang C, Lupski JR, Jin L, Zhang F. CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis. Human Molecular Genetics. 24: 1574-83. PMID 25398944 DOI: 10.1093/Hmg/Ddu572  0.491
2015 Ramasamy R, Bakircioglu E, Cengiz C, Karaca E, Scovell J, Bainbridge M, Lupski J, Lamb D. Mp76-06 Whole-Exome Sequencing Identifies Novel Homozygous Mutation In Npas2 In Family With Nonobstructive Azoospermia The Journal of Urology. 193. DOI: 10.1016/J.Juro.2015.02.2791  0.354
2014 de Ligt J, Boone PM, Pfundt R, Vissers LE, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY. Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing. Genomics Data. 2: 144-146. PMID 26258046 DOI: 10.1016/j.gdata.2014.06.009  0.344
2014 DiVincenzo C, Elzinga CD, Medeiros AC, Karbassi I, Jones JR, Evans MC, Braastad CD, Bishop CM, Jaremko M, Wang Z, Liaquat K, Hoffman CA, York MD, Batish SD, Lupski JR, et al. The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. Molecular Genetics & Genomic Medicine. 2: 522-9. PMID 25614874 DOI: 10.1002/mgg3.106  0.303
2014 Carvalho CM, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte AB, Vianna-Morgante AM, Krepischi AC, Patel GS, Immken L, Aleck K, Lim C, Cheung SW, ... ... Lupski JR, et al. Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. American Journal of Human Genetics. 95: 565-78. PMID 25439725 DOI: 10.1016/J.Ajhg.2014.10.006  0.373
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, ... ... Lupski JR, 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  0.317
2014 Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, ... ... Lupski JR, et al. Analysis of the ABCA4 genomic locus in Stargardt disease. Human Molecular Genetics. 23: 6797-806. PMID 25082829 DOI: 10.1093/Hmg/Ddu396  0.369
2014 Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, ... ... Lupski JR, et al. The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. American Journal of Human Genetics. 95: 143-61. PMID 25065914 DOI: 10.1016/J.Ajhg.2014.06.014  0.74
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, ... ... Lupski JR, 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  0.304
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, ... ... Lupski JR, 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  0.669
2014 Prada CE, Gonzaga-Jauregui C, Tannenbaum R, Penney S, Lupski JR, Hopkin RJ, Sutton VR. Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. European Journal of Medical Genetics. 57: 339-44. PMID 24769197 DOI: 10.1016/j.ejmg.2014.04.005  0.309
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  0.348
2014 Liu P, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E, Medeiros AC, Moore RJ, DiVincenzo C, Burnette WB, Higgins JJ, Li J, Orr-Urtreger A, Lupski JR. Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. American Journal of Human Genetics. 94: 462-9. PMID 24530202 DOI: 10.1016/J.Ajhg.2014.01.017  0.422
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  0.673
2014 Klassen TL, Bomben VC, Patel A, Drabek J, Chen TT, Gu W, Zhang F, Chapman K, Lupski JR, Noebels JL, Goldman AM. High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile. Epilepsia. 55: e6-12. PMID 24372310 DOI: 10.1111/Epi.12489  0.346
2014 Euteneuer J, Carvalho CM, Kulkarni S, Vineyard M, Grady RM, Lupski JR, Shinawi M. Molecular and phenotypic characterization of atypical Williams-Beuren syndrome. Clinical Genetics. 86: 487-91. PMID 24246242 DOI: 10.1111/cge.12305  0.354
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, ... Lupski JR, 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  0.671
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, 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  0.322
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, ... ... Lupski JR, 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  0.363
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, 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  0.317
2013 Carvalho CM, Pehlivan D, Ramocki MB, Fang P, Alleva B, Franco LM, Belmont JW, Hastings PJ, Lupski JR. Replicative mechanisms for CNV formation are error prone. Nature Genetics. 45: 1319-26. PMID 24056715 DOI: 10.1038/ng.2768  0.328
2013 Vatta M, Niu Z, Lupski JR, Putnam P, Spoonamore KG, Fang P, Eng CM, Willis AS. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. American Journal of Medical Genetics. Part A. 161: 3182-6. PMID 23956205 DOI: 10.1002/ajmg.a.36178  0.33
2013 de Ligt J, Boone PM, Pfundt R, Vissers LE, Richmond T, Geoghegan J, O'Moore K, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY. Detection of clinically relevant copy number variants with whole-exome sequencing. Human Mutation. 34: 1439-48. PMID 23893877 DOI: 10.1002/humu.22387  0.324
2013 Lupski JR. Genetics. Genome mosaicism--one human, multiple genomes. Science (New York, N.Y.). 341: 358-9. PMID 23888031 DOI: 10.1126/science.1239503  0.302
2013 Okamoto Y, Pehlivan D, Wiszniewski W, Beck CR, Snipes GJ, Lupski JR, Khajavi M. Curcumin facilitates a transitory cellular stress response in Trembler-J mice. Human Molecular Genetics. 22: 4698-705. PMID 23847051 DOI: 10.1093/hmg/ddt318  0.615
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  0.353
2013 Lacaria M, Gu W, Lupski JR. Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1. American Journal of Medical Genetics. Part A. 1561-8. PMID 23703963 DOI: 10.1002/ajmg.a.35941  0.327
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  0.365
2013 Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, ... ... Lupski JR, 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  0.39
2013 Verdin H, D'haene B, Beysen D, Novikova Y, Menten B, Sante T, Lapunzina P, Nevado J, Carvalho CM, Lupski JR, De Baere E. Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. Plos Genetics. 9: e1003358. PMID 23516377 DOI: 10.1371/journal.pgen.1003358  0.419
2013 Zhou W, Zhang F, Chen X, Shen Y, Lupski JR, Jin L. Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms. Human Molecular Genetics. 22: 2642-51. PMID 23474816 DOI: 10.1093/Hmg/Ddt113  0.544
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  0.322
2013 Sun Z, Liu P, Jia X, Withers MA, Jin L, Lupski JR, Zhang F. Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome. Human Molecular Genetics. 22: 749-56. PMID 23161748 DOI: 10.1093/Hmg/Dds482  0.537
2013 Dittwald P, Gambin T, Gonzaga-Jauregui C, Carvalho CM, Lupski JR, Stankiewicz P, Gambin A. Inverted low-copy repeats and genome instability--a genome-wide analysis. Human Mutation. 34: 210-20. PMID 22965494 DOI: 10.1002/humu.22217  0.412
2013 Vester A, Velez-Ruiz G, McLaughlin HM, Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Human Mutation. 34: 191-9. PMID 22930593 DOI: 10.1002/Humu.22210  0.324
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, ... Lupski JR, 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  0.313
2012 Yatsenko SA, Hixson P, Roney EK, Scott DA, Schaaf CP, Ng YT, Palmer R, Fisher RB, Patel A, Cheung SW, Lupski JR. Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization. Human Genetics. 131: 1895-910. PMID 22890305 DOI: 10.1007/s00439-012-1216-9  0.384
2012 Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW. A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype. Bmc Medical Genetics. 13: 71. PMID 22883432 DOI: 10.1186/1471-2350-13-71  0.336
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  0.368
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  0.338
2012 Dharmadhikari AV, Kang SH, Szafranski P, Person RE, Sampath S, Prakash SK, Bader PI, Phillips JA, Hannig V, Williams M, Vinson SS, Wilfong AA, Reimschisel TE, Craigen WJ, Patel A, ... ... Lupski JR, et al. Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Human Molecular Genetics. 21: 3345-55. PMID 22543972 DOI: 10.1093/hmg/dds166  0.329
2012 Liu P, Carvalho CM, Hastings PJ, Lupski JR. Mechanisms for recurrent and complex human genomic rearrangements. Current Opinion in Genetics & Development. 22: 211-20. PMID 22440479 DOI: 10.1016/j.gde.2012.02.012  0.345
2012 Auffray C, Caulfield T, Khoury MJ, Lupski JR, Schwab M, Veenstra T. Looking back at genomic medicine in 2011 Genome Medicine. 4: 9-9. PMID 22293121 DOI: 10.1186/Gm308  0.385
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  0.341
2012 Pehlivan D, Hullings M, Carvalho CM, Gonzaga-Jauregui CG, Loy E, Jackson LG, Krantz ID, Deardorff MA, Lupski JR. NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 14: 313-22. PMID 22241092 DOI: 10.1038/gim.2011.13  0.314
2012 Simmons AD, Carvalho CM, Lupski JR. What have studies of genomic disorders taught us about our genome? Methods in Molecular Biology (Clifton, N.J.). 838: 1-27. PMID 22228005 DOI: 10.1007/978-1-61779-507-7_1  0.348
2012 Leitão-Gonçalves R, Ermanoska B, Jacobs A, De Vriendt E, Timmerman V, Lupski JR, Callaerts P, Jordanova A. Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT. Amino Acids. 42: 1661-8. PMID 21384131 DOI: 10.1007/S00726-011-0868-4  0.311
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  0.394
2011 Wang H, Chen X, Dudinsky L, Patenia C, Chen Y, Li Y, Wei Y, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Gibbs RA, Perkins BD, Chen R. Exome capture sequencing identifies a novel mutation in BBS4. Molecular Vision. 17: 3529-40. PMID 22219648  0.332
2011 Liu P, Lacaria M, Zhang F, Withers M, Hastings PJ, Lupski JR. Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. American Journal of Human Genetics. 89: 580-8. PMID 21981782 DOI: 10.1016/J.Ajhg.2011.09.009  0.465
2011 Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, ... ... Lupski JR, et al. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nature Genetics. 43: 1074-81. PMID 21964572 DOI: 10.1038/ng.944  0.337
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  0.369
2011 Liu P, Erez A, Nagamani SC, Dhar SU, Kołodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, ... ... Lupski JR, et al. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 146: 889-903. PMID 21925314 DOI: 10.1016/J.Cell.2011.07.042  0.432
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  0.305
2011 Outwin E, Carpenter G, Bi W, Withers MA, Lupski JR, O'Driscoll M. Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome. Plos Genetics. 7: e1002247. PMID 21901111 DOI: 10.1371/journal.pgen.1002247  0.329
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  0.342
2011 Boone PM, Liu P, Zhang F, Carvalho CM, Towne CF, Batish SD, Lupski JR. Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 13: 582-92. PMID 21659953 DOI: 10.1097/Gim.0B013E3182106775  0.336
2011 Boone PM, Wiszniewski W, Lupski JR. Genomic medicine and neurological disease. Human Genetics. 130: 103-21. PMID 21594611 DOI: 10.1007/s00439-011-1001-1  0.333
2011 Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, ... ... Lupski JR, et al. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Human Molecular Genetics. 20: 1975-88. PMID 21355048 DOI: 10.1093/hmg/ddr078  0.386
2011 Carvalho CM, Zhang F, Lupski JR. Structural variation of the human genome: mechanisms, assays, and role in male infertility. Systems Biology in Reproductive Medicine. 57: 3-16. PMID 21210740 DOI: 10.3109/19396368.2010.527427  0.433
2010 Antonellis A, Dennis MY, Burzynski G, Huynh J, Maduro V, Hodonsky CJ, Khajavi M, Szigeti K, Mukkamala S, Bessling SL, Pavan WJ, McCallion AS, Lupski JR, Green ED. A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo. Plos One. 5: e14346. PMID 21179557 DOI: 10.1371/Journal.Pone.0014346  0.32
2010 Ricard G, Molina J, Chrast J, Gu W, Gheldof N, Pradervand S, Schütz F, Young JI, Lupski JR, Reymond A, Walz K. Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. Plos Biology. 8: e1000543. PMID 21124890 DOI: 10.1371/Journal.Pbio.1000543  0.366
2010 El-Hattab AW, Zhang F, Maxim R, Christensen KM, Ward JC, Hines-Dowell S, Scaglia F, Lupski JR, Cheung SW. Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 12: 573-86. PMID 20860070 DOI: 10.1097/Gim.0B013E3181Eb9B4A  0.316
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, ... ... Lupski JR, 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  0.313
2010 Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, Stankiewicz P, Lupski JR, Limon J. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. European Journal of Medical Genetics. 53: 378-82. PMID 20727427 DOI: 10.1016/j.ejmg.2010.08.002  0.373
2010 Gonzaga-Jauregui C, Zhang F, Towne CF, Batish SD, Lupski JR. GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease. Neurogenetics. 11: 465-70. PMID 20532933 DOI: 10.1007/S10048-010-0247-4  0.449
2010 Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, ... ... Lupski JR, et al. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. American Journal of Human Genetics. 86: 892-903. PMID 20493460 DOI: 10.1016/J.Ajhg.2010.05.001  0.516
2010 Shchelochkov OA, Cheung SW, Lupski JR. Genomic and clinical characteristics of microduplications in chromosome 17. American Journal of Medical Genetics. Part A. 1101-10. PMID 20425816 DOI: 10.1002/ajmg.a.33248  0.405
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, 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  0.474
2010 Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR. Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. American Journal of Human Genetics. 86: 462-70. PMID 20188345 DOI: 10.1016/J.Ajhg.2010.02.001  0.491
2010 Carvalho CM, Zhang F, Lupski JR. Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution. Proceedings of the National Academy of Sciences of the United States of America. 107: 1765-71. PMID 20080665 DOI: 10.1073/Pnas.0906222107  0.454
2010 Stankiewicz P, Lupski JR. Structural variation in the human genome and its role in disease. Annual Review of Medicine. 61: 437-55. PMID 20059347 DOI: 10.1146/annurev-med-100708-204735  0.361
2009 Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Annals of Neurology. 66: 771-82. PMID 20035514 DOI: 10.1002/Ana.21715  0.319
2009 Boles MK, Wilkinson BM, Wilming LG, Liu B, Probst FJ, Harrow J, Grafham D, Hentges KE, Woodward LP, Maxwell A, Mitchell K, Risley MD, Johnson R, Hirschi K, Lupski JR, et al. Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin. Plos Genetics. 5: e1000759. PMID 20011118 DOI: 10.1371/Journal.Pgen.1000759  0.381
2009 Zhang F, Gu W, Hurles ME, Lupski JR. Copy number variation in human health, disease, and evolution. Annual Review of Genomics and Human Genetics. 10: 451-481. PMID 19715442 DOI: 10.1146/Annurev.Genom.9.081307.164217  0.467
2009 Hastings PJ, Lupski JR, Rosenberg SM, Ira G. Mechanisms of change in gene copy number. Nature Reviews. Genetics. 10: 551-64. PMID 19597530 DOI: 10.1038/Nrg2593  0.329
2009 Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, ... ... Lupski JR, et al. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. Journal of Medical Genetics. 46: 825-33. PMID 19584063 DOI: 10.1136/Jmg.2009.067637  0.438
2009 Zhang F, Carvalho CMB, Lupski JR. Complex human chromosomal and genomic rearrangements Trends in Genetics. 25: 298-307. PMID 19560228 DOI: 10.1016/J.Tig.2009.05.005  0.434
2009 El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Human Genetics. 126: 589-602. PMID 19557438 DOI: 10.1007/s00439-009-0706-x  0.305
2009 Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nature Genetics. 41: 849-53. PMID 19543269 DOI: 10.1038/Ng.399  0.463
2009 Lupski JR. Genomic disorders ten years on. Genome Medicine. 1: 42. PMID 19439022 DOI: 10.1186/gm42  0.33
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, ... ... Lupski JR, 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  0.477
2009 Yatsenko SA, Brundage EK, Roney EK, Cheung SW, Chinault AC, Lupski JR. Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Human Molecular Genetics. 18: 1924-36. PMID 19293338 DOI: 10.1093/hmg/ddp114  0.359
2009 Leal A, Huehne K, Bauer F, Sticht H, Berger P, Suter U, Morera B, Del Valle G, Lupski JR, Ekici A, Pasutto F, Endele S, Barrantes R, Berghoff C, Berghoff M, et al. Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics. 10: 275-87. PMID 19290556 DOI: 10.1007/S10048-009-0183-3  0.311
2009 Gu W, Lupski JR. CNV and nervous system diseases--what's new? Cytogenetic and Genome Research. 123: 54-64. PMID 19287139 DOI: 10.1159/000184692  0.314
2009 Hastings PJ, Ira G, Lupski JR. A microhomology-mediated break-induced replication model for the origin of human copy number variation. Plos Genetics. 5: e1000327. PMID 19180184 DOI: 10.1371/journal.pgen.1000327  0.315
2009 Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, ... ... Lupski JR, et al. Increased LIS1 expression affects human and mouse brain development. Nature Genetics. 41: 168-77. PMID 19136950 DOI: 10.1038/Ng.302  0.333
2009 Yan J, Zhang F, Brundage E, Scheuerle A, Lanpher B, Erickson RP, Powis Z, Robinson HB, Trapane PL, Stachiw-Hietpas D, Keppler-Noreuil KM, Lalani SR, Sahoo T, Chinault AC, Patel A, ... ... Lupski JR, et al. Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. Journal of Medical Genetics. 46: 626-34. PMID 19052029 DOI: 10.1136/Jmg.2008.062471  0.504
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  0.356
2008 Gu W, Zhang F, Lupski JR. Mechanisms for human genomic rearrangements Pathogenetics. 1: 4-4. PMID 19014668 DOI: 10.1186/1755-8417-1-4  0.454
2008 Stankiewicz P, Lupski JR. The genomic basis of disease, mechanisms and assays for genomic disorders. Genome Dynamics. 1: 1-16. PMID 18724050 DOI: 10.1159/000092496  0.415
2008 Carvalho CM, Lupski JR. Copy number variation at the breakpoint region of isochromosome 17q. Genome Research. 18: 1724-32. PMID 18714090 DOI: 10.1101/gr.080697.108  0.321
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, ... Lupski JR, et al. The complete genome of an individual by massively parallel DNA sequencing. Nature. 452: 872-6. PMID 18421352 DOI: 10.1038/Nature06884  0.364
2008 Doco-Fenzy M, Holder-Espinasse M, Bieth E, Magdelaine C, Vincent M, Khoury M, Andrieux J, Zhang F, Lupski JR, Klink R, Schneider A, Goze-Martineau O, Cuisset J, Vallee L, Manouvrier-Hanu S, et al. The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients. American Journal of Medical Genetics Part A. 146: 917-924. PMID 18327785 DOI: 10.1002/Ajmg.A.32195  0.405
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  0.309
2008 Lee JA, Carvalho CM, Lupski JR. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell. 131: 1235-47. PMID 18160035 DOI: 10.1016/j.cell.2007.11.037  0.418
2007 Babcock M, Yatsenko S, Hopkins J, Brenton M, Cao Q, de Jong P, Stankiewicz P, Lupski JR, Sikela JM, Morrow BE. Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome. Human Molecular Genetics. 16: 2560-71. PMID 17675367 DOI: 10.1093/Hmg/Ddm197  0.361
2007 Gherman A, Chen PE, Teslovich TM, Stankiewicz P, Withers M, Kashuk CS, Chakravarti A, Lupski JR, Cutler DJ, Katsanis N. Population bottlenecks as a potential major shaping force of human genome architecture. Plos Genetics. 3: e119. PMID 17658953 DOI: 10.1371/Journal.Pgen.0030119  0.321
2007 Lupski JR. Genomic rearrangements and sporadic disease. Nature Genetics. 39: S43-7. PMID 17597781 DOI: 10.1038/ng2084  0.35
2007 Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P. Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Human Genetics. 122: 63-70. PMID 17503084 DOI: 10.1007/s00439-007-0373-8  0.311
2007 Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, et al. Completing the map of human genetic variation. Nature. 447: 161-5. PMID 17495918 DOI: 10.1038/447161A  0.327
2007 Vissers LE, Stankiewicz P, Yatsenko SA, Crawford E, Creswick H, Proud VK, de Vries BB, Pfundt R, Marcelis CL, Zackowski J, Bi W, van Kessel AG, Lupski JR, Veltman JA. Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies. Human Genetics. 121: 697-709. PMID 17457615 DOI: 10.1007/s00439-007-0359-6  0.307
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  0.314
2007 Babcock M, Yatsenko S, Stankiewicz P, Lupski JR, Morrow BE. AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12 Genome Research. 17: 451-460. PMID 17284672 DOI: 10.1101/Gr.5651507  0.37
2007 Yan J, Bi W, Lupski JR. Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike. American Journal of Human Genetics. 80: 518-25. PMID 17273973 DOI: 10.1086/512043  0.335
2007 Lee JA, Cheung SW, Ward PA, Inoue K, Lupski JR. Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization. Prenatal Diagnosis. 25: 1188-91. PMID 16353282 DOI: 10.1002/PD.1308  0.311
2006 del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, ... ... Lupski JR, et al. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 8: 784-92. PMID 17172942 DOI: 10.1097/01.gim.0000250502.28516.3c  0.345
2006 Lindsay SJ, Khajavi M, Lupski JR, Hurles ME. A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. American Journal of Human Genetics. 79: 890-902. PMID 17033965 DOI: 10.1086/508709  0.425
2006 Walz K, Paylor R, Yan J, Bi W, Lupski JR. Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2). The Journal of Clinical Investigation. 116: 3035-41. PMID 17024248 DOI: 10.1172/Jci28953  0.349
2006 Lee JA, Lupski JR. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron. 52: 103-21. PMID 17015230 DOI: 10.1016/j.neuron.2006.09.027  0.357
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  0.396
2006 Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, Bi W, Bloom T, Borowsky ML, et al. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature. 440: 1045-9. PMID 16625196 DOI: 10.1038/Nature04689  0.331
2006 Lupski JR, Stankiewicz P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. Plos Genetics. 1: e49. PMID 16444292 DOI: 10.1371/journal.pgen.0010049  0.409
2006 Stankiewicz P, Bi W, Lupski JR. Smith-magenis syndrome deletion, reciprocal duplication dup(17)(p11.2p11.2), and other proximal 17p rearrangements Genomic Disorders: the Genomic Basis of Disease. 179-191. DOI: 10.1007/978-1-59745-039-3_12  0.369
2006 Timmerman V, Lupski JR. The CMT1A duplication and HNPP deletion Genomic Disorders: the Genomic Basis of Disease. 169-178. DOI: 10.1007/978-1-59745-039-3_11  0.368
2006 Lupski JR, Timmerman V. The CMT1A duplication a historical perspective viewed from two sides of an ocean Genomic Disorders: the Genomic Basis of Disease. 3-17. DOI: 10.1007/978-1-59745-039-3_1  0.313
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  0.31
2005 Kurotaki N, Stankiewicz P, Wakui K, Niikawa N, Lupski JR. Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. Human Molecular Genetics. 14: 535-42. PMID 15640245 DOI: 10.1093/HMG/DDI050  0.326
2005 Stankiewicz P, Shaw CJ, Withers M, Inoue K, Lupski JR. Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Research. 14: 2209-20. PMID 15520286 DOI: 10.1101/GR.2746604  0.372
2005 Stankiewicz P, Khajavi M, Lupski JR. 16: Evolution of novel genes and complex genome architecture by serial segmental duplication during primate speciation European Journal of Medical Genetics. 48: 477-478. DOI: 10.1016/J.EJMG.2005.10.049  0.302
2004 Shaw CJ, Lupski JR. Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms. Human Genetics. 116: 1-7. PMID 15526218 DOI: 10.1007/s00439-004-1204-9  0.374
2004 Lupski JR. Hotspots of homologous recombination in the human genome: not all homologous sequences are equal. Genome Biology. 5: 242. PMID 15461806 DOI: 10.1186/gb-2004-5-10-242  0.337
2004 Yan J, Keener VW, Bi W, Walz K, Bradley A, Justice MJ, Lupski JR. Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. Human Molecular Genetics. 13: 2613-24. PMID 15459175 DOI: 10.1093/Hmg/Ddh288  0.311
2004 Yatsenko S, Yatsenko A, Szigeti K, Craigen W, Stankiewicz P, Cheung S, Lupski J. Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome. Clinical Genetics. 66: 128-136. PMID 15253763 DOI: 10.1111/J.1399-0004.2004.00290.X  0.376
2004 Eichers ER, Lewis RA, Katsanis N, Lupski JR. Triallelic inheritance: a bridge between Mendelian and multifactorial traits. Annals of Medicine. 36: 262-72. PMID 15224652 DOI: 10.1080/07853890410026214  0.321
2004 Shaw CJ, Withers MA, Lupski JR. Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. American Journal of Human Genetics. 75: 75-81. PMID 15148657 DOI: 10.1086/422016  0.393
2004 Shaw CJ, Lupski JR. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Human Molecular Genetics. R57-64. PMID 14764619 DOI: 10.1093/HMG/DDH073  0.406
2004 Walz K, Fonseca P, Lupski JR. Animal models for human contiguous gene syndromes and other genomic disorders Genetics and Molecular Biology. 27: 305-320. DOI: 10.1590/S1415-47572004000300001  0.427
2003 Barbouti A, Stankiewicz P, Nusbaum C, Cuomo C, Cook A, Höglund M, Johansson B, Hagemeijer A, Park SS, Mitelman F, Lupski JR, Fioretos T. The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats. American Journal of Human Genetics. 74: 1-10. PMID 14666446 DOI: 10.1086/380648  0.325
2003 Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. American Journal of Human Genetics. 73: 1302-15. PMID 14639526 DOI: 10.1086/379979  0.352
2003 Jaakson K, Zernant J, Külm M, Hutchinson A, Tonisson N, Glavac D, Ravnik-Glavac M, Hawlina M, Meltzer MR, Caruso RC, Testa F, Maugeri A, Hoyng CB, Gouras P, Simonelli F, ... ... Lupski JR, et al. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Human Mutation. 22: 395-403. PMID 14517951 DOI: 10.1002/humu.10263  0.304
2003 Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. An ABCA4 genomic deletion in patients with Stargardt disease. Human Mutation. 21: 636-44. PMID 12754711 DOI: 10.1002/HUMU.10219  0.381
2003 Walz K, Caratini-Rivera S, Bi W, Fonseca P, Mansouri DL, Lynch J, Vogel H, Noebels JL, Bradley A, Lupski JR. Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. Molecular and Cellular Biology. 23: 3646-55. PMID 12724422 DOI: 10.1128/Mcb.23.10.3646-3655.2003  0.323
2003 Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR. Genome architecture catalyzes nonrecurrent chromosomal rearrangements. American Journal of Human Genetics. 72: 1101-16. PMID 12649807 DOI: 10.1086/374385  0.381
2003 Lupski JR. 2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture. American Journal of Human Genetics. 72: 246-52. PMID 12596790 DOI: 10.1086/346217  0.306
2003 Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. American Journal of Human Genetics. 72: 650-8. PMID 12567324 DOI: 10.1086/368204  0.381
2002 Katsanis N, Worley KC, Gonzalez G, Ansley SJ, Lupski JR. A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes. Proceedings of the National Academy of Sciences of the United States of America. 99: 14326-31. PMID 12391299 DOI: 10.1073/pnas.222409099  0.325
2002 Shaw CJ, Bi W, Lupski JR. Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2 American Journal of Human Genetics. 71: 1072-1081. PMID 12375235 DOI: 10.1086/344346  0.31
2002 Inoue K, Osaka H, Thurston VC, Clarke JT, Yoneyama A, Rosenbarker L, Bird TD, Hodes ME, Shaffer LG, Lupski JR. Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. American Journal of Human Genetics. 71: 838-53. PMID 12297985 DOI: 10.1086/342728  0.387
2002 Inoue K, Lupski JR. Molecular mechanisms for genomic disorders. Annual Review of Genomics and Human Genetics. 3: 199-242. PMID 12142364 DOI: 10.1146/ANNUREV.GENOM.3.032802.120023  0.346
2002 Stankiewicz P, Lupski JR. Molecular-evolutionary mechanisms for genomic disorders. Current Opinion in Genetics & Development. 12: 312-9. PMID 12076675 DOI: 10.1016/S0959-437X(02)00304-0  0.395
2002 Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. American Journal of Human Genetics. 71: 22-9. PMID 12016587 DOI: 10.1086/341031  0.302
2002 Park SS, Stankiewicz P, Bi W, Shaw C, Lehoczky J, Dewar K, Birren B, Lupski JR. Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs Genome Research. 12: 729-738. PMID 11997339 DOI: 10.1101/Gr.82802  0.397
2002 Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Research. 12: 713-28. PMID 11997338 DOI: 10.1101/Gr.73702  0.373
2002 Stankiewicz P, Lupski JR. Genome architecture, rearrangements and genomic disorders. Trends in Genetics : Tig. 18: 74-82. PMID 11818139 DOI: 10.1016/S0168-9525(02)02592-1  0.403
2001 Katsanis N, Worley KC, Lupski JR. An evaluation of the draft human genome sequence. Nature Genetics. 29: 88-91. PMID 11528399 DOI: 10.1038/ng0901-88  0.384
2001 Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1 Clinical Genetics. 59: 424-429. PMID 11453974 DOI: 10.1034/J.1399-0004.2001.590607.X  0.386
2001 Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Research. 11: 1018-33. PMID 11381029 DOI: 10.1101/Gr.180401  0.72
2001 Liehr T, Reiter LT, Lupski JR, Murakami T, Claussen U, Rautenstrauss B. Regional localization of 10 mariner transposon-like ESTs by means of FISH--evidence for a correlation with fragile sites. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 12: 326-8. PMID 11309667 DOI: 10.1007/S003350010276  0.59
2001 Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. American Journal of Human Genetics. 68: 606-16. PMID 11179009 DOI: 10.1086/318794  0.342
2001 Edelmann L, Stankiewicz P, Spiteri E, Pandita RK, Shaffer L, Lupski J, Morrow BE. Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus Genome Research. 11: 208-217. PMID 11157784 DOI: 10.1101/Gr.Gr-1431R  0.474
2001 Shaffer LG, Lupski JR. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annual Review of Genetics. 34: 297-329. PMID 11092830 DOI: 10.1146/ANNUREV.GENET.34.1.297  0.346
2001 Badano JL, Inoue K, Katsanis N, Lupski JR. New Polymorphic Short Tandem Repeats for PCR-based Charcot-Marie-Tooth Disease Type 1A Duplication Diagnosis Clinical Chemistry. 47: 838-843. DOI: 10.1093/CLINCHEM/47.5.838  0.307
2000 Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nature Genetics. 26: 67-70. PMID 10973251 DOI: 10.1038/79201  0.308
2000 Britton RA, Chen SM, Wallis D, Koeuth T, Powell BS, Shaffer LG, Largaespada D, Jenkins NA, Copeland NG, Court DL, Lupski JR. Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era. Genomics. 67: 78-82. PMID 10945472 DOI: 10.1006/Geno.2000.6243  0.316
2000 Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nature Genetics. 24: 84-7. PMID 10615134 DOI: 10.1038/71743  0.418
1999 Boerkoel CF, Inoue K, Reiter LT, Warner LE, Lupski JR. Molecular Mechanisms for CMT1A Duplication and HNPP Deletion. Annals of the New York Academy of Sciences. 883: 22-35. PMID 29086952 DOI: 10.1111/J.1749-6632.1999.Tb08563.X  0.704
1999 Katsanis N, Lewis RA, Stockton DW, Mai PM, Baird L, Beales PL, Leppert M, Lupski JR. Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. American Journal of Human Genetics. 65: 1672-9. PMID 10577921 DOI: 10.1086/302684  0.311
1999 Reiter LT, Liehr T, Rautenstrauss B, Robertson HM, Lupski JR. Localization of mariner DNA transposons in the human genome by PRINS. Genome Research. 9: 839-43. PMID 10508842 DOI: 10.1101/Gr.9.9.839  0.696
1999 Potocki L, Chen KS, Koeuth T, Killian J, Iannaccone ST, Shapira SK, Kashork CD, Spikes AS, Shaffer LG, Lupski JR. DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome. American Journal of Human Genetics. 64: 471-8. PMID 9973284 DOI: 10.1086/302240  0.31
1999 Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, Li Y, Lupski JR, Leppert M, Dean M. Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. American Journal of Human Genetics. 64: 422-34. PMID 9973280 DOI: 10.1086/302251  0.301
1998 King PH, Waldrop R, Lupski JR, Shaffer LG. Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome. Clinical Genetics. 54: 413-6. PMID 9842994 DOI: 10.1111/J.1399-0004.1998.Tb03755.X  0.401
1998 Lupski JR. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends in Genetics : Tig. 14: 417-22. PMID 9820031 DOI: 10.1016/S0168-9525(98)01555-8  0.43
1998 Stockton DW, Lewis RA, Abboud EB, Al-Rajhi A, Jabak M, Anderson KL, Lupski JR. A novel locus for Leber congenital amaurosis on chromosome 14q24 Human Genetics. 103: 328-333. PMID 9799089 DOI: 10.1007/s004390050825  0.312
1998 Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. American Journal of Medical Genetics. 78: 82-9. PMID 9637430 DOI: 10.1002/(SICI)1096-8628(19980616)78:1<82::AID-AJMG17>3.0.CO;2-K  0.317
1998 Zhao Q, Chen KS, Bejjani BA, Lupski JR. Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179. Genomics. 49: 394-400. PMID 9615224 DOI: 10.1006/GENO.1998.5285  0.374
1998 Reiter LT, Hastings PJ, Nelis E, De Jonghe P, Van Broeckhoven C, Lupski JR. Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. American Journal of Human Genetics. 62: 1023-33. PMID 9545397 DOI: 10.1086/301827  0.69
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  0.707
1997 Murakami T, Reiter LT, Lupski JR. Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. Genomics. 42: 161-4. PMID 9177788 DOI: 10.1006/Geno.1997.4711  0.698
1997 Lupski JR. Charcot-Marie-Tooth disease: a gene-dosage effect. Hospital Practice (1995). 32: 83-4, 89-91, 94-5 pa. PMID 9153141 DOI: 10.1080/21548331.1997.11443485  0.311
1997 Timmerman V, Rautenstrauss B, Reiter LT, Koeuth T, Löfgren A, Liehr T, Nelis E, Bathke KD, De Jonghe P, Grehl H, Martin JJ, Lupski JR, Van Broeckhoven C. Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent Journal of Medical Genetics. 34: 43-49. PMID 9032649 DOI: 10.1136/Jmg.34.1.43  0.647
1997 Murakami T, Sun ZS, Lee CC, Lupski JR. Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. Genomics. 39: 99-103. PMID 9027492 DOI: 10.1006/GENO.1996.4461  0.355
1996 Murakami T, Garcia CA, Reiter LT, Lupski JR. Charcot-Marie-Tooth disease and related inherited neuropathies. Medicine. 75: 233-50. PMID 8862346 DOI: 10.1097/00005792-199609000-00001  0.71
1996 Roa BB, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Human Mutation. 7: 36-45. PMID 8664899 DOI: 10.1002/(Sici)1098-1004(1996)7:1<36::Aid-Humu5>3.0.Co;2-N  0.312
1996 Murakami T, Lupski JR. A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. Genomics. 34: 128-33. PMID 8661034 DOI: 10.1006/GENO.1996.0251  0.319
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  0.657
1996 Warner LE, Reiter LT, Murakami T, Lupski JR. Molecular Mechanisms For Charcot-Marie-Tooth Disease And Related Demyelinating Peripheral Neuropathies Cold Spring Harbor Symposia On Quantitative Biology. 61: 659-671. DOI: 10.1101/Sqb.1996.061.01.066  0.58
1996 Reiter LT, Murakami T, Warner LE, Lupski JR. DNA rearrangements affecting dosage sensitive genes Mental Retardation and Developmental Disabilities Research Reviews. 2: 139-146. DOI: 10.1002/(Sici)1098-2779(1996)2:3<139::Aid-Mrdd4>3.0.Co;2-N  0.68
1994 Roa BB, Lupski JR. Molecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition. The American Journal of the Medical Sciences. 306: 177-84. PMID 8128981 DOI: 10.1097/00000441-199309000-00010  0.327
1994 Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17 Human Molecular Genetics. 3: 223-228. PMID 8004087 DOI: 10.1093/Hmg/3.2.223  0.344
1994 Metzger R, Brown DP, Grealish P, Staver MJ, Versalovic J, Lupski JR, Katz L. Characterization of the macromolecular synthesis (MMS) operon from Listeria monocytogenes. Gene. 151: 161-6. PMID 7828867 DOI: 10.1016/0378-1119(94)90649-1  0.314
1993 Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. The New England Journal of Medicine. 329: 96-101. PMID 8510709 DOI: 10.1056/NEJM199307083290205  0.332
1993 Lupski JR, Pentao L, Williams LL, Patel PI. Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1. American Journal of Medical Genetics. 45: 92-96. PMID 8418668 DOI: 10.1002/Ajmg.1320450122  0.305
1993 Versalovic J, Koeuth T, Britton R, Geszvain K, Lupski JR. Conservation and evolution of the rpsU-dnaG-rpoD macromolecular synthesis operon in bacteria Molecular Microbiology. 8: 343-355. PMID 8316085 DOI: 10.1111/J.1365-2958.1993.Tb01578.X  0.307
1993 Lupski JR, Chance PF, Garcia CA. Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP. Jama. 270: 2326-30. PMID 8230595 DOI: 10.1001/Jama.1993.03510190082031  0.357
1992 Guzzetta V, Franco B, Trask BJ, Zhang H, Saucedo-Cardenas O, Montes de Oca-Luna R, Greenberg F, Chinault AC, Lupski JR, Patel PI. Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p. Genomics. 13: 551-9. PMID 1639385 DOI: 10.1016/0888-7543(92)90124-B  0.318
1992 Lupski JR, Weinstock GM. Short, interspersed repetitive DNA sequences in prokaryotic genomes Journal of Bacteriology. 174: 4525-4529. PMID 1624445 DOI: 10.1128/Jb.174.14.4525-4529.1992  0.311
1992 Lupski JR, Garcia CA. Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A. Brain Pathology (Zurich, Switzerland). 2: 337-49. PMID 1341967 DOI: 10.1111/J.1750-3639.1992.Tb00710.X  0.342
1992 Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit Nature Genetics. 2: 292-300. PMID 1303282 DOI: 10.1038/Ng1292-292  0.313
1992 Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genetics. 1: 159-65. PMID 1303228 DOI: 10.1038/Ng0692-159  0.341
1991 Nesin M, Svec P, Lupski JR, Godson GN, Kreiswirth B, Kornblum J, Projan SJ. Cloning and nucleotide sequence of a chromosomally encoded tetracycline resistance determinant, tetA(M), from a pathogenic, methicillin-resistant strain of Staphylococcus aureus. Antimicrobial Agents and Chemotherapy. 34: 2273-6. PMID 2073121 DOI: 10.1128/AAC.34.11.2273  0.596
1991 Grompe M, Versalovic J, Koeuth T, Lupski JR. Mutations in the Escherichia coli dnaG gene suggest coupling between DNA replication and chromosome partitioning. Journal of Bacteriology. 173: 1268-1278. PMID 1991720 DOI: 10.1128/Jb.173.3.1268-1278.1991  0.312
1991 Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 66: 219-32. PMID 1677316 DOI: 10.1016/0092-8674(91)90613-4  0.308
1989 Nesin M, Lupski JR, Godson GN. Role of the 5' upstream sequence and tandem promoters in regulation of the rpsU-dnaG-rpoD macromolecular synthesis operon. Journal of Bacteriology. 170: 5759-64. PMID 2848013 DOI: 10.1128/JB.170.12.5759-5764.1988  0.581
1989 Lupski JR, Godson GN. DNA----DNA, and DNA----RNA----protein: orchestration by a single complex operon. Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology. 10: 152-7. PMID 2472787 DOI: 10.1002/BIES.950100504  0.598
1987 Nesin M, Lupski JR, Svec P, Godson GN. Possible new genes as revealed by molecular analysis of a 5-kb Escherichia coli chromosomal region 5' to the rpsU-dnaG-rpoD macromolecular-synthesis operon. Gene. 51: 149-61. PMID 3297921 DOI: 10.1016/0378-1119(87)90303-9  0.644
1986 Lupski JR, Projan SJ, Ozaki LS, Godson GN. A temperature-dependent pBR322 copy number mutant resulting from a Tn5 position effect. Proceedings of the National Academy of Sciences of the United States of America. 83: 7381-5. PMID 2429304 DOI: 10.1073/PNAS.83.19.7381  0.588
1985 Lupski JR, Godson GN. The rpsU-dnaG-rpoD macromolecular synthesis operon of E. coli. Cell. 39: 251-2. PMID 6388849 DOI: 10.1016/0092-8674(84)90001-1  0.522
1985 Godson GN, Ellis J, Lupski JR, Ozaki LS, Svec P. Structure and organization of genes for sporozoite surface antigens. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 307: 129-39. PMID 6151677 DOI: 10.1098/RSTB.1984.0114  0.595
1985 Lupski JR, Gershon P, Ozaki LS, Godson GN. Specificity of Tn5 insertions into a 36-bp DNA sequence repeated in tandem seven times. Gene. 30: 99-106. PMID 6096228 DOI: 10.1016/0378-1119(84)90109-4  0.618
1985 Peacock S, Lupski JR, Godson GN, Weissbach H. In vitro stimulation of Escherichia coli RNA polymerase sigma subunit synthesis by NusA protein Gene. 33: 227-234. PMID 3888785 DOI: 10.1016/0378-1119(85)90097-6  0.595
1985 Bukhari AI, Lupski JR, Svec P, Godson GN. Comparison of left-end DNA sequences of bacteriophages Mu and D108. Gene. 33: 235-9. PMID 3158574 DOI: 10.1016/0378-1119(85)90098-8  0.612
1984 Lupski JR, Ruiz AA, Godson GN. Promotion, termination, and anti-termination in the rpsU-dnaG-rpoD macromolecular synthesis operon of E. coli K-12. Molecular & General Genetics : Mgg. 195: 391-401. PMID 6206376 DOI: 10.1007/BF00341439  0.601
1983 Lupski JR, Smiley BL, Godson GN. Regulation of the rpsU-dnaG-rpoD macromolecular synthesis operon and the initiation of DNA replication in Escherichia coli K-12. Molecular & General Genetics : Mgg. 189: 48-57. PMID 6222240 DOI: 10.1007/BF00326054  0.642
1983 Lupski JR, Ozaki LS, Ellis J, Godson GN. Localization of a Plasmodium surface antigen epitope by Tn5 mutagenesis mapping of a recombinant cDNA clone. Science (New York, N.Y.). 220: 1285-8. PMID 6190227 DOI: 10.1126/SCIENCE.6190227  0.573
1982 Smiley BL, Lupski JR, Svec PS, McMacken R, Godson GN. Sequences of the Escherichia coli dnaG primase gene and regulation of its expression Proceedings of the National Academy of Sciences of the United States of America. 79: 4550-4554. PMID 6750604  0.641
1982 Lupski JR, Smiley BL, Blattner FR, Godson GN. Cloning and characterization of the Escherichia coli chromosomal region surrounding the dnaG Gene, with a correlated physical and genetic map of dnaG generated via transposon Tn5 mutagenesis. Molecular & General Genetics : Mgg. 185: 120-8. PMID 6283308 DOI: 10.1007/Bf00333800  0.641
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