| 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 | 186 | 2019 |
| Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles Z Coban-Akdemir, JJ White, X Song, SN Jhangiani, JM Fatih, T Gambin, ... The American Journal of Human Genetics 103 (2), 171-187, 2018 | 174 | 2018 |
| DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome J White, JF Mazzeu, A Hoischen, SN Jhangiani, T Gambin, MC Alcino, ... The American Journal of Human Genetics 96 (4), 612-622, 2015 | 137 | 2015 |
| WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome JJ White, JF Mazzeu, Z Coban-Akdemir, Y Bayram, V Bahrambeigi, ... The American Journal of Human Genetics 102 (1), 27-43, 2018 | 113 | 2018 |
| DVL3 alleles resulting in a− 1 frameshift of the last exon mediate autosomal-dominant Robinow syndrome JJ White, JF Mazzeu, A Hoischen, Y Bayram, M Withers, A Gezdirici, ... The American Journal of Human Genetics 98 (3), 553-561, 2016 | 109 | 2016 |
| A new stapler-based full-thickness transgastric access closure: results from an animal pilot trial P Magno, SA Giday, X Dray, SS Chung, PB Cotton, CJ Gostout, ... Endoscopy 39 (10), 876-880, 2007 | 105 | 2007 |
| POGZ truncating alleles cause syndromic intellectual disability J White, CR Beck, T Harel, JE Posey, SN Jhangiani, S Tang, KD Farwell, ... Genome Medicine 8, 1-11, 2016 | 96 | 2016 |
| Whole-exome sequencing in familial Parkinson disease JL Farlow, LA Robak, K Hetrick, K Bowling, E Boerwinkle, ... JAMA neurology 73 (1), 68-75, 2016 | 80 | 2016 |
| Paralog studies augment gene discovery: DDX and DHX genes I Paine, JE Posey, CM Grochowski, SN Jhangiani, S Rosenheck, ... The American Journal of Human Genetics 105 (2), 302-316, 2019 | 62 | 2019 |
| Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease A Jolly, Y Bayram, S Turan, Z Aycan, T Tos, ZY Abali, B Hacihamdioglu, ... The Journal of Clinical Endocrinology & Metabolism 104 (8), 3049-3067, 2019 | 59 | 2019 |
| REST final-exon-truncating mutations cause hereditary gingival fibromatosis Y Bayram, JJ White, N Elcioglu, MT Cho, N Zadeh, A Gedikbasi, ... The American Journal of Human Genetics 101 (1), 149-156, 2017 | 48 | 2017 |
| Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 47 | 2022 |
| De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease L Ma, Y Bayram, HM McLaughlin, MT Cho, A Krokosky, CE Turner, ... Human genetics 135, 1399-1409, 2016 | 35 | 2016 |
| Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death PM Boone, B Yuan, S Gu, Z Ma, T Gambin, C Gonzaga‐Jauregui, M Jain, ... Molecular genetics & genomic medicine 4 (1), 77-94, 2016 | 34 | 2016 |
| De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder GM Mirzaa, JX Chong, A Piton, B Popp, K Foss, H Guo, R Harripaul, K Xia, ... Genetics in Medicine 22 (3), 538-546, 2020 | 31 | 2020 |
| Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics MN Loviglio, CR Beck, JJ White, M Leleu, T Harel, N Guex, A Niknejad, ... Genome medicine 8, 1-15, 2016 | 31 | 2016 |
| Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins FS Jehee, VT de Oliveira, J Gurgel‐Giannetti, RX Pietra, FVM Rubatino, ... American Journal of Medical Genetics Part A 173 (9), 2451-2455, 2017 | 28 | 2017 |
| Baylor-Hopkins Center for Mendelian Genomics Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles Z Coban-Akdemir, JJ White, X Song, SN Jhangiani, JM Fatih, T Gambin, ... Am. J. Hum. Genet 103, 171-187, 2018 | 26 | 2018 |
| Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability C Zhang, A Jolly, BJ Shayota, JF Mazzeu, H Du, M Dawood, PC Soper, ... Human Genetics and Genomics Advances 3 (1), 2022 | 25 | 2022 |
| Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome C Zhang, JF Mazzeu, J Eisfeldt, CM Grochowski, J White, ZC Akdemir, ... American Journal of Medical Genetics Part A 185 (12), 3593-3600, 2021 | 21 | 2021 |
