| Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders A Hamosh, AF Scott, JS Amberger, CA Bocchini, VA McKusick Nucleic acids research 33 (suppl_1), D514-D517, 2005 | 3346 | 2005 |
| Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies DT Miller, MP Adam, S Aradhya, LG Biesecker, AR Brothman, NP Carter, ... The American Journal of Human Genetics 86 (5), 749-764, 2010 | 3248 | 2010 |
| Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene HC Dietz, CR Cutting, RE Pyeritz, CL Maslen, LY Sakai, GM Corson, ... Nature 352 (6333), 337-339, 1991 | 2428 | 1991 |
| OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders JS Amberger, CA Bocchini, F Schiettecatte, AF Scott, A Hamosh Nucleic acids research 43 (D1), D789-D798, 2015 | 2310 | 2015 |
| 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 | 1454 | 2015 |
| Development of human protein reference database as an initial platform for approaching systems biology in humans S Peri, JD Navarro, R Amanchy, TZ Kristiansen, CK Jonnalagadda, ... Genome research 13 (10), 2363-2371, 2003 | 1345 | 2003 |
| McKusick's online Mendelian inheritance in man (OMIM®) J Amberger, CA Bocchini, AF Scott, A Hamosh Nucleic acids research 37 (suppl_1), D793-D796, 2009 | 831 | 2009 |
| OMIM. org: leveraging knowledge across phenotype–gene relationships JS Amberger, CA Bocchini, AF Scott, A Hamosh Nucleic acids research 47 (D1), D1038-D1043, 2019 | 783 | 2019 |
| Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders A Hamosh, AF Scott, J Amberger, C Bocchini, D Valle, VA McKusick Nucleic acids research 30 (1), 52-55, 2002 | 779 | 2002 |
| 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 | 773 | 2015 |
| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 641 | 2017 |
| Online Mendelian inheritance in man (OMIM) A Hamosh, AF Scott, J Amberger, D Valle, VA McKusick Human mutation 15 (1), 57-61, 2000 | 595 | 2000 |
| Association of human aging with a functional variant of klotho DE Arking, A Krebsova, M Macek Sr, M Macek Jr, A Arking, IS Mian, ... Proceedings of the National Academy of Sciences 99 (2), 856-861, 2002 | 584 | 2002 |
| Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita M Armanios, JL Chen, YPC Chang, RA Brodsky, A Hawkins, CA Griffin, ... Proceedings of the National Academy of Sciences 102 (44), 15960-15964, 2005 | 576 | 2005 |
| Searching online mendelian inheritance in man (OMIM): a knowledgebase of human genes and genetic phenotypes JS Amberger, A Hamosh Current protocols in bioinformatics 58 (1), 1.2. 1-1.2. 12, 2017 | 566 | 2017 |
| 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 | 516 | 2015 |
| Survival after treatment with phenylacetate and benzoate for urea-cycle disorders GM Enns, SA Berry, GT Berry, WJ Rhead, SW Brusilow, A Hamosh New England Journal of Medicine 356 (22), 2282-2292, 2007 | 432 | 2007 |
| 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 | 421 | 2017 |
| A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®) J Amberger, C Bocchini, A Hamosh Human mutation 32 (5), 564-567, 2011 | 398 | 2011 |
| How many rare diseases are there? M Haendel, N Vasilevsky, D Unni, C Bologa, N Harris, H Rehm, ... Nature reviews drug discovery 19 (2), 77-78, 2020 | 395 | 2020 |
Nara SobreiraJohns Hopkins University在 jhmi.edu 的电子邮件经过验证
