| GeneMatcher: a matching tool for connecting investigators with an interest in the same gene N Sobreira, F Schiettecatte, D Valle, A Hamosh Human mutation 36 (10), 928-930, 2015 | 1378 | 2015 |
| 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 | 746 | 2015 |
| The Matchmaker Exchange: a platform for rare disease gene discovery AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ... Human mutation 36 (10), 915-921, 2015 | 495 | 2015 |
| Microdeletions of 3q29 confer high risk for schizophrenia JG Mulle, AF Dodd, JA McGrath, PS Wolyniec, AA Mitchell, AC Shetty, ... The American Journal of Human Genetics 87 (2), 229-236, 2010 | 253 | 2010 |
| 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 |
| Bioinformatics-based identification of expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS H Rafehi, DJ Szmulewicz, MF Bennett, NLM Sobreira, K Pope, KR Smith, ... The American Journal of Human Genetics 105 (1), 151-165, 2019 | 217 | 2019 |
| 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 |
| 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 | 189 | 2019 |
| Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease … ASJM Te Riele, E Agullo-Pascual, CA James, A Leo-Macias, M Cerrone, ... Cardiovascular research 113 (1), 102-111, 2017 | 178 | 2017 |
| Mutations in SPATA5 are associated with microcephaly, intellectual disability, seizures, and hearing loss AJ Tanaka, MT Cho, F Millan, J Juusola, K Retterer, C Joshi, D Niyazov, ... The American Journal of Human Genetics 97 (3), 457-464, 2015 | 176 | 2015 |
| New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web‐based tool for linking investigators with an interest in the same gene N Sobreira, F Schiettecatte, C Boehm, D Valle, A Hamosh Human Mutation 36 (4), 425-431, 2015 | 167 | 2015 |
| ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm RA Gould, H Aziz, CE Woods, MA Seman-Senderos, E Sparks, C Preuss, ... Nature genetics 51 (1), 42-50, 2019 | 132 | 2019 |
| A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation JE Hunter, SA Irving, LG Biesecker, A Buchanan, B Jensen, K Lee, ... Genetics in Medicine 18 (12), 1258-1268, 2016 | 104 | 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 | 88 | 2017 |
| A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome SA Di Gioia, S Connors, N Matsunami, J Cannavino, MF Rose, NM Gilette, ... Nature communications 8 (1), 16077, 2017 | 83 | 2017 |
| 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 |
| Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome KW Gripp, KM Robbins, NL Sobreira, PD Witmer, LM Bird, K Avela, ... American journal of medical genetics Part A 167 (2), 271-281, 2015 | 79 | 2015 |
| GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities … PYB Au, J You, O Caluseriu, J Schwartzentruber, J Majewski, FP Bernier, ... Human mutation 36 (10), 1009-1014, 2015 | 77 | 2015 |
| Family based whole exome sequencing reveals the multifaceted role of notch signaling in congenital heart disease C Preuss, M Capredon, F Wünnemann, P Chetaille, A Prince, B Godard, ... PLoS genetics 12 (10), e1006335, 2016 | 76 | 2016 |
| Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy DC Pant, I Dorboz, A Schluter, S Fourcade, N Launay, J Joya, ... The Journal of clinical investigation 129 (3), 1240-1256, 2019 | 74 | 2019 |
JULIE HOOVER-FONGJohns Hopkins University, Department of Genetic Medicine, Greenberg Center for Skeletal Dysplasias在 jhmi.edu 的电子邮件经过验证
