Molecular findings among patients referred for clinical whole-exome sequencing Y Yang, DM Muzny, F Xia, Z Niu, R Person, Y Ding, P Ward, A Braxton, ... Jama 312 (18), 1870-1879, 2014 | 1475 | 2014 |
Resolution of disease phenotypes resulting from multilocus genomic variation JE Posey, T Harel, P Liu, JA Rosenfeld, RA James, ZH Coban Akdemir, ... New England Journal of Medicine 376 (1), 21-31, 2017 | 658 | 2017 |
Recurrent reciprocal 16p11. 2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size M Shinawi, P Liu, SHL Kang, J Shen, JW Belmont, DA Scott, FJ Probst, ... Journal of medical genetics 47 (5), 332-341, 2010 | 590 | 2010 |
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 | 467 | 2011 |
Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management L Meng, M Pammi, A Saronwala, P Magoulas, AR Ghazi, F Vetrini, ... JAMA pediatrics 171 (12), e173438-e173438, 2017 | 423 | 2017 |
Mechanisms for recurrent and complex human genomic rearrangements P Liu, CMB Carvalho, PJ Hastings, JR Lupski Current opinion in genetics & development 22 (3), 211-220, 2012 | 384 | 2012 |
Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation G Trivellin, AF Daly, FR Faucz, B Yuan, L Rostomyan, DO Larco, ... New England Journal of Medicine 371 (25), 2363-2374, 2014 | 332 | 2014 |
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis N Gomez-Ospina, CJ Potter, R Xiao, K Manickam, MS Kim, KH Kim, ... Nature communications 7 (1), 10713, 2016 | 302 | 2016 |
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 | 281 | 2015 |
Reanalysis of clinical exome sequencing data P Liu, L Meng, EA Normand, F Xia, X Song, A Ghazi, J Rosenfeld, ... New England Journal of Medicine 380 (25), 2478-2480, 2019 | 232 | 2019 |
Lessons learned from additional research analyses of unsolved clinical exome cases MK Eldomery, Z Coban-Akdemir, T Harel, JA Rosenfeld, T Gambin, ... Genome medicine 9, 1-15, 2017 | 231 | 2017 |
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 | 219 | 2009 |
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome CMB Carvalho, MB Ramocki, D Pehlivan, LM Franco, ... Nature genetics 43 (11), 1074-1081, 2011 | 213 | 2011 |
Insights into genetics, human biology and disease gleaned from family based genomic studies JE Posey, AH O’Donnell-Luria, JX Chong, T Harel, SN Jhangiani, ... Genetics in Medicine 21 (4), 798-812, 2019 | 190 | 2019 |
X-linked acrogigantism syndrome: clinical profile and therapeutic responses A Beckers, MB Lodish, G Trivellin, L Rostomyan, M Lee, FR Faucz, ... Endocrine-related cancer 22 (3), 353-367, 2015 | 183 | 2015 |
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits P Dittwald, T Gambin, P Szafranski, J Li, S Amato, MY Divon, LXR Rojas, ... Genome research 23 (9), 1395-1409, 2013 | 153 | 2013 |
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ... Nature communications 11 (1), 4932, 2020 | 151 | 2020 |
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 | 150 | 2010 |
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder EA Normand, A Braxton, S Nassef, PA Ward, F Vetrini, W He, V Patel, ... Genome medicine 10, 1-14, 2018 | 146 | 2018 |
De novo mutations in CHD4, an ATP-dependent chromatin remodeler gene, cause an intellectual disability syndrome with distinctive dysmorphisms K Weiss, PA Terhal, L Cohen, M Bruccoleri, M Irving, AF Martinez, ... The American Journal of Human Genetics 99 (4), 934-941, 2016 | 141 | 2016 |