| The DNA sequence of human chromosome 22 I Dunham, AR Hunt, JE Collins, R Bruskiewich, DM Beare, M Clamp, ... Nature 402 (6761), 489-495, 1999 | 1497 | 1999 |
| Microduplications of 16p11. 2 are associated with schizophrenia SE McCarthy, V Makarov, G Kirov, AM Addington, J McClellan, S Yoon, ... Nature genetics 41 (11), 1223-1227, 2009 | 845 | 2009 |
| A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci, P Siswara, A Itsara, ... Nature genetics 42 (3), 203-209, 2010 | 676 | 2010 |
| Chromosome 22-specific low copy repeats and the 22q11. 2 deletion syndrome: genomic organization and deletion endpoint analysis TH Shaikh, H Kurahashi, SC Saitta, AM O’Hare, P Hu, BA Roe, ... Human molecular genetics 9 (4), 489-501, 2000 | 655 | 2000 |
| Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes J Elia, X Gai, HM Xie, JC Perin, E Geiger, JT Glessner, M D'arcy, ... Molecular psychiatry 15 (6), 637-646, 2010 | 646 | 2010 |
| African origin of human-specific polymorphic Alu insertions. MA Batzer, M Stoneking, M Alegria-Hartman, H Bazan, DH Kass, ... Proceedings of the National Academy of Sciences 91 (25), 12288-12292, 1994 | 465 | 1994 |
| Genomic and genic deletions of the FOX gene cluster on 16q24. 1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations P Stankiewicz, P Sen, SS Bhatt, M Storer, Z Xia, BA Bejjani, Z Ou, ... The American Journal of Human Genetics 84 (6), 780-791, 2009 | 460 | 2009 |
| Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies BJ Keating, S Tischfield, SS Murray, T Bhangale, TS Price, JT Glessner, ... PloS one 3 (10), e3583, 2008 | 456 | 2008 |
| Copy number variation at 1q21. 1 associated with neuroblastoma SJ Diskin, C Hou, JT Glessner, EF Attiyeh, M Laudenslager, K Bosse, ... Nature 459 (7249), 987-991, 2009 | 451 | 2009 |
| High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications TH Shaikh, X Gai, JC Perin, JT Glessner, H Xie, K Murphy, R O'Hara, ... Genome research 19 (9), 1682-1690, 2009 | 436 | 2009 |
| Segmental duplications: an'expanding'role in genomic instability and disease BS Emanuel, TH Shaikh Nature Reviews Genetics 2 (10), 791-800, 2001 | 359 | 2001 |
| Duplication of 7q34 in pediatric low‐grade astrocytomas detected by high‐density single‐nucleotide polymorphism‐based genotype arrays results in a novel BRAF fusion gene AJ Sievert, EM Jackson, X Gai, H Hakonarson, AR Judkins, AC Resnick, ... Brain pathology 19 (3), 449-458, 2009 | 281 | 2009 |
| Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes X Zhou, P Feliciano, C Shu, T Wang, I Astrovskaya, JB Hall, JU Obiajulu, ... Nature genetics 54 (9), 1305-1319, 2022 | 265 | 2022 |
| Discovery of a previously unrecognized microdeletion syndrome of 16p11. 2–p12. 2 BC Ballif, SA Hornor, E Jenkins, S Madan-Khetarpal, U Surti, KE Jackson, ... Nature genetics 39 (9), 1071-1073, 2007 | 249 | 2007 |
| Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 PR Baker, MW Friederich, MA Swanson, T Shaikh, K Bhattacharya, ... Brain 137 (2), 366-379, 2014 | 247 | 2014 |
| Structure and variability of recently inserted Alu family members MA Batzer, GE Kilroy, PE Richard, TH Shaikh, TD Desselle, CL Hoppens, ... Nucleic acids research 18 (23), 6793-6798, 1990 | 241 | 1990 |
| Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome MC Hannibal, KJ Buckingham, SB Ng, JE Ming, AE Beck, MJ McMillin, ... American journal of medical genetics Part A 155 (7), 1511-1516, 2011 | 235 | 2011 |
| Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes P Feliciano, X Zhou, I Astrovskaya, TN Turner, T Wang, L Brueggeman, ... NPJ genomic medicine 4 (1), 19, 2019 | 227 | 2019 |
| Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive … EM Jackson, AJ Sievert, X Gai, H Hakonarson, AR Judkins, L Tooke, ... Clinical cancer research 15 (6), 1923-1930, 2009 | 217 | 2009 |
| Rare structural variation of synapse and neurotransmission genes in autism X Gai, HM Xie, JC Perin, N Takahashi, K Murphy, AS Wenocur, M D'arcy, ... Molecular psychiatry 17 (4), 402-411, 2012 | 211 | 2012 |
