| 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 | 744 | 2015 |
| Pediatric swallowing and feeding: Assessment and management JC Arvedson, L Brodsky, MA Lefton-Greif Plural Publishing, 2019 | 706 | 2019 |
| Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1 FS Kaplan, M Xu, P Seemann, JM Connor, DL Glaser, L Carroll, P Delai, ... Human mutation 30 (3), 379-390, 2009 | 479 | 2009 |
| Problematic variation in local institutional review of a multicenter genetic epidemiology study R McWilliams, J Hoover-Fong, A Hamosh, S Beck, T Beaty, G Cutting Jama 290 (3), 360-366, 2003 | 249 | 2003 |
| Heritability of lung disease severity in cystic fibrosis LL Vanscoy, SM Blackman, JM Collaco, A Bowers, T Lai, K Naughton, ... American journal of respiratory and critical care medicine 175 (10), 1036-1043, 2007 | 243 | 2007 |
| Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene NLM Sobreira, ET Cirulli, D Avramopoulos, E Wohler, GL Oswald, ... PLoS genetics 6 (6), e1000991, 2010 | 242 | 2010 |
| Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis SM Blackman, R Deering–Brose, R McWilliams, K Naughton, B Coleman, ... Gastroenterology 131 (4), 1030-1039, 2006 | 206 | 2006 |
| The characterization of twenty sequenced human genomes K Pelak, KV Shianna, D Ge, JM Maia, M Zhu, JP Smith, ET Cirulli, J Fellay, ... PLoS genetics 6 (9), e1001111, 2010 | 199 | 2010 |
| Natural history of nonketotic hyperglycinemia in 65 patients JE Hoover-Fong, S Shah, JLK Van Hove, D Applegarth, J Toone, ... Neurology 63 (10), 1847-1853, 2004 | 186 | 2004 |
| C-type natriuretic peptide analogue therapy in children with achondroplasia R Savarirayan, M Irving, CA Bacino, B Bostwick, J Charrow, ... New England Journal of Medicine 381 (1), 25-35, 2019 | 162 | 2019 |
| Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders AI Gorgy, NL Jonassaint, SE Stanley, A Koteish, AE DeZern, JE Walter, ... Chest 148 (4), 1019-1026, 2015 | 122 | 2015 |
| Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial R Savarirayan, L Tofts, M Irving, W Wilcox, CA Bacino, J Hoover-Fong, ... The Lancet 396 (10252), 684-692, 2020 | 117 | 2020 |
| 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 | 116 | 2018 |
| The impact of chromosomal microarray on clinical management: a retrospective analysis LB Henderson, CD Applegate, E Wohler, MB Sheridan, J Hoover-Fong, ... Genetics in Medicine 16 (9), 657-664, 2014 | 87 | 2014 |
| Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height JE Hoover-Fong, KJ Schulze, J McGready, H Barnes, CI Scott The American journal of clinical nutrition 88 (2), 364-371, 2008 | 82 | 2008 |
| P heno DB: A New Web‐Based Tool for the Collection, Storage, and Analysis of Phenotypic Features A Hamosh, N Sobreira, J Hoover‐Fong, VR Sutton, C Boehm, ... Human mutation 34 (4), 566-571, 2013 | 81 | 2013 |
| Health supervision for people with achondroplasia J Hoover-Fong, CI Scott, MC Jones, E Chen, TL Trotter, SA Berry, ... Pediatrics 145 (6), 2020 | 80 | 2020 |
| Weight for age charts for children with achondroplasia JE Hoover‐Fong, J McGready, KJ Schulze, H Barnes, CI Scott American Journal of Medical Genetics Part A 143 (19), 2227-2235, 2007 | 80 | 2007 |
| Handbook of growth and growth monitoring in health and disease VR Preedy Springer Science & Business Media, 2011 | 77 | 2011 |
| Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy KK White, V Bompadre, MJ Goldberg, MB Bober, JW Campbell, TJ Cho, ... American journal of medical genetics Part A 170 (1), 42-51, 2016 | 76 | 2016 |
Michael B. BoberProfessor of Pediatrics, Thomas Jefferson University在 nemours.org 的电子邮件经过验证
