Copy number variation in human health, disease, and evolution F Zhang, W Gu, ME Hurles, JR Lupski Annual review of genomics and human genetics 10, 451-481, 2009 | 1486 | 2009 |
Whole-genome sequencing in a patient with Charcot–Marie–Tooth neuropathy JR Lupski, JG Reid, C Gonzaga-Jauregui, D Rio Deiros, DCY Chen, ... New England Journal of Medicine 362 (13), 1181-1191, 2010 | 930 | 2010 |
Mechanisms for human genomic rearrangements W Gu, F Zhang, JR Lupski Pathogenetics 1 (1), 4, 2008 | 811 | 2008 |
Non-coding genetic variants in human disease F Zhang, JR Lupski Human molecular genetics 24 (R1), R102-R110, 2015 | 731 | 2015 |
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans F Zhang, M Khajavi, AM Connolly, CF Towne, SD Batish, JR Lupski Nature genetics 41 (7), 849-853, 2009 | 543 | 2009 |
Genetic evidence supports demic diffusion of Han culture B Wen, H Li, D Lu, X Song, F Zhang, Y He, F Li, Y Gao, X Mao, L Zhang, ... Nature 431 (7006), 302-305, 2004 | 535 | 2004 |
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements P Liu, A Erez, SCS Nagamani, SU Dhar, KE Kołodziejska, ... Cell 146 (6), 889-903, 2011 | 484 | 2011 |
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome MB Ramocki, SU Peters, YJ Tavyev, F Zhang, C Carvalho, CP Schaaf, ... Annals of neurology 66 (6), 771-782, 2009 | 346 | 2009 |
Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2 Z Liu, X Li, JT Zhang, YJ Cai, TL Cheng, C Cheng, Y Wang, CC Zhang, ... Nature 530 (7588), 98-102, 2016 | 343 | 2016 |
Complex human chromosomal and genomic rearrangements F Zhang, CMB Carvalho, JR Lupski Trends in Genetics 25 (7), 298-307, 2009 | 313 | 2009 |
TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, ... New England Journal of Medicine 372 (4), 341-350, 2015 | 309 | 2015 |
Biallelic mutations in CFAP43 and CFAP44 cause male infertility with multiple morphological abnormalities of the sperm flagella S Tang, X Wang, W Li, X Yang, Z Li, W Liu, C Li, Z Zhu, L Wang, J Wang, ... The American Journal of Human Genetics 100 (6), 854-864, 2017 | 282 | 2017 |
Increased LIS1 expression affects human and mouse brain development W Bi, T Sapir, OA Shchelochkov, F Zhang, MA Withers, JV Hunter, T Levy, ... Nature genetics 41 (2), 168-177, 2009 | 248 | 2009 |
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching CMB Carvalho, F Zhang, P Liu, A Patel, T Sahoo, CA Bacino, C Shaw, ... Human molecular genetics 18 (12), 2188-2203, 2009 | 228 | 2009 |
Y chromosome evidence of earliest modern human settlement in East Asia and multiple origins of Tibetan and Japanese populations H Shi, H Zhong, Y Peng, YL Dong, XB Qi, F Zhang, LF Liu, SJ Tan, RZ Ma, ... BMC biology 6 (1), 45, 2008 | 194 | 2008 |
Zinc-finger-nucleases mediate specific and efficient excision of HIV-1 proviral DNA from infected and latently infected human T cells X Qu, P Wang, D Ding, L Li, H Wang, L Ma, X Zhou, S Liu, S Lin, X Wang, ... Nucleic acids research 41 (16), 7771-7782, 2013 | 189 | 2013 |
Assessing structural variation in a personal genome—towards a human reference diploid genome AC English, WJ Salerno, OA Hampton, C Gonzaga-Jauregui, S Ambreth, ... BMC genomics 16 (1), 286, 2015 | 163 | 2015 |
Genetic structure of Hmong-Mien speaking populations in East Asia as revealed by mtDNA lineages B Wen, H Li, S Gao, X Mao, Y Gao, F Li, F Zhang, Y He, Y Dong, Y Zhang, ... Molecular Biology and Evolution 22 (3), 725-734, 2004 | 156 | 2004 |
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability F Zhang, P Seeman, P Liu, MAJ Weterman, C Gonzaga-Jauregui, ... The American Journal of Human Genetics 86 (6), 892-903, 2010 | 152 | 2010 |
Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13. 3 result in facial dysmorphisms, growth restriction, and cognitive impairment SCS Nagamani, F Zhang, OA Shchelochkov, W Bi, Z Ou, F Scaglia, ... Journal of medical genetics 46 (12), 825-833, 2009 | 148 | 2009 |