| The mutational constraint spectrum quantified from variation in 141,456 humans KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ... Nature 581 (7809), 434-443, 2020 | 8414 | 2020 |
| 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 | 784 | 2015 |
| International cooperation to enable the diagnosis of all rare genetic diseases KM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ... The American Journal of Human Genetics 100 (5), 695-705, 2017 | 442 | 2017 |
| Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways HH Freeze, JX Chong, MJ Bamshad, BG Ng The American Journal of Human Genetics 94 (2), 161-175, 2014 | 299 | 2014 |
| Estimating the human mutation rate using autozygosity in a founder population CD Campbell, JX Chong, M Malig, A Ko, BL Dumont, L Han, L Vives, ... Nature genetics 44 (11), 1277-1281, 2012 | 259 | 2012 |
| Mendelian Gene Discovery: Fast and Furious with No End in Sight MJ Bamshad, DA Nickerson, JX Chong The American Journal of Human Genetics 105 (3), 448-455, 2019 | 250 | 2019 |
| Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5 MJ McMillin, AE Beck, JX Chong, KM Shively, KJ Buckingham, ... The American Journal of Human Genetics 94 (5), 734-744, 2014 | 219 | 2014 |
| 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 | 198 | 2019 |
| Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes S Martinelli, OHF Krumbach, F Pantaleoni, S Coppola, E Amin, ... The American Journal of Human Genetics 102 (2), 309-320, 2018 | 182 | 2018 |
| Targeted long-read sequencing identifies missing disease-causing variation DE Miller, A Sulovari, T Wang, H Loucks, K Hoekzema, KM Munson, ... The American Journal of Human Genetics 108 (8), 1436-1449, 2021 | 178 | 2021 |
| Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28 KW Gripp, C Curry, AH Olney, C Sandoval, J Fisher, JXL Chong, ... American journal of medical genetics Part A 164 (9), 2240-2249, 2014 | 152 | 2014 |
| De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay JX Chong, MJ McMillin, KM Shively, AE Beck, CT Marvin, JR Armenteros, ... The American Journal of Human Genetics 96 (3), 462-473, 2015 | 148 | 2015 |
| Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13 M Çalışkan, JX Chong, L Uricchio, R Anderson, P Chen, C Sougnez, ... Human molecular genetics 20 (7), 1285-1289, 2011 | 139 | 2011 |
| Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability N Bögershausen, N Shahrzad, JX Chong, JC von Kleist-Retzow, ... The American Journal of Human Genetics 93 (1), 181-190, 2013 | 131 | 2013 |
| Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation BG Ng, KJ Buckingham, K Raymond, M Kircher, EH Turner, M He, ... The American Journal of Human Genetics 92 (4), 632-636, 2013 | 128 | 2013 |
| Mutations in the epithelial cadherin-p120-catenin complex cause mendelian non-syndromic cleft lip with or without cleft palate LL Cox, TC Cox, LMM Uribe, Y Zhu, CT Richter, N Nidey, JM Standley, ... The American Journal of Human Genetics 102 (6), 1143-1157, 2018 | 113 | 2018 |
| Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features JX Chong, JH Yu, P Lorentzen, KM Park, SM Jamal, HK Tabor, A Rauch, ... Genetics in Medicine, 2015 | 107 | 2015 |
| Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results HK Tabor, PL Auer, SM Jamal, JX Chong, JH Yu, AS Gordon, TA Graubert, ... The American Journal of Human Genetics 95 (2), 183-193, 2014 | 100 | 2014 |
| MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder G Heimer, JM Kerätär, LG Riley, S Balasubramaniam, E Eyal, ... The American Journal of Human Genetics 99 (6), 1229-1244, 2016 | 96 | 2016 |
| Matchmaker exchange NLM Sobreira, H Arachchi, OJ Buske, JX Chong, B Hutton, J Foreman, ... Current protocols in human genetics 95 (1), 9.31. 1-9.31. 15, 2017 | 94 | 2017 |
