| The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities JX Chong, KJ Buckingham, SN Jhangiani, C Boehm, N Sobreira, ... The American Journal of Human Genetics 97 (2), 199-215, 2015 | 736 | 2015 |
| 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 | 636 | 2017 |
| Asprosin, a fasting-induced glucogenic protein hormone C Romere, C Duerrschmid, J Bournat, P Constable, M Jain, F Xia, ... Cell 165 (3), 566-579, 2016 | 490 | 2016 |
| 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 | 413 | 2017 |
| Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA MJ Lindhurst, VER Parker, F Payne, JC Sapp, S Rudge, J Harris, ... Nature genetics 44 (8), 928-933, 2012 | 317 | 2012 |
| Asprosin is a centrally acting orexigenic hormone C Duerrschmid, Y He, C Wang, C Li, JC Bournat, C Romere, PK Saha, ... Nature medicine 23 (12), 1444-1453, 2017 | 311 | 2017 |
| Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome SK Shapira, C McCaskill, H Northrup, AS Spikes, FFB Elder, VR Sutton, ... The American Journal of Human Genetics 61 (3), 642-650, 1997 | 310 | 1997 |
| Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum KM Keppler‐Noreuil, JC Sapp, MJ Lindhurst, VER Parker, C Blumhorst, ... American journal of medical genetics Part A 164 (7), 1713-1733, 2014 | 301 | 2014 |
| Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia X Wang, V Reid Sutton, J Omar Peraza-Llanes, Z Yu, R Rosetta, YC Kou, ... Nature genetics 39 (7), 836-838, 2007 | 291 | 2007 |
| 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 | 271 | 2015 |
| Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics SW Cheung, CA Shaw, DA Scott, A Patel, T Sahoo, CA Bacino, A Pursley, ... American journal of medical genetics Part A 143 (15), 1679-1686, 2007 | 253 | 2007 |
| 22q11. 2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome S Ben-Shachar, Z Ou, CA Shaw, JW Belmont, MS Patel, M Hummel, ... The American Journal of Human Genetics 82 (1), 214-221, 2008 | 244 | 2008 |
| 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 | 224 | 2017 |
| Molecular diagnostic experience of whole-exome sequencing in adult patients JE Posey, JA Rosenfeld, RA James, M Bainbridge, Z Niu, X Wang, S Dhar, ... Genetics in Medicine 18 (7), 678-685, 2016 | 222 | 2016 |
| 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 | 221 | 2019 |
| Microduplications of 22q11. 2 are frequently inherited and are associated with variable phenotypes Z Ou, JS Berg, H Yonath, VB Enciso, DT Miller, J Picker, T Lenzi, ... Genetics in Medicine 10 (4), 267-277, 2008 | 210 | 2008 |
| Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism MJ Miller, AD Kennedy, AD Eckhart, LC Burrage, JE Wulff, LAD Miller, ... Journal of inherited metabolic disease 38, 1029-1039, 2015 | 202 | 2015 |
| 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 | 185 | 2019 |
| Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes B Yuan, D Pehlivan, E Karaca, N Patel, WL Charng, T Gambin, ... The Journal of clinical investigation 125 (2), 636-651, 2015 | 180 | 2015 |
| De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome MN Bainbridge, H Hu, DM Muzny, L Musante, JR Lupski, BH Graham, ... Genome medicine 5, 1-9, 2013 | 169 | 2013 |
