| A second generation human haplotype map of over 3.1 million SNPs International HapMap Consortium Nature 449 (7164), 851, 2007 | 9334* | 2007 |
| The international HapMap project RA Gibbs, JW Belmont, P Hardenbol, TD Willis, FL Yu, HM Yang, ... Nature Publishing Group, 2003 | 6191 | 2003 |
| Genome-wide detection and characterization of positive selection in human populations PC Sabeti, P Varilly, B Fry, J Lohmueller, E Hostetter, C Cotsapas, X Xie, ... Nature 449 (7164), 913-918, 2007 | 2196 | 2007 |
| Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. RC Allen, HY Zoghbi, AB Moseley, HM Rosenblatt, JW Belmont American journal of human genetics 51 (6), 1229, 1992 | 1942 | 1992 |
| Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia S Tsukada, DC Saffran, DJ Rawlings, O Parolini, RC Allen, I Klisak, ... Cell 72 (2), 279-290, 1993 | 1606 | 1993 |
| The 2017 international classification of the Ehlers–Danlos syndromes F Malfait, C Francomano, P Byers, J Belmont, B Berglund, J Black, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017 | 1599 | 2017 |
| A haplotype map of the human genome D Altshuler Nature 437, 1299-1320, 2005 | 1187 | 2005 |
| CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome RC Allen, RJ Armitage, ME Conley, H Rosenblatt, NA Jenkins, ... Science 259 (5097), 990-993, 1993 | 1039 | 1993 |
| Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy RH Pignatelli, CJ McMahon, WJ Dreyer, SW Denfield, J Price, ... Circulation 108 (21), 2672-2678, 2003 | 904 | 2003 |
| Enzyme-replacement therapy in mucopolysaccharidosis I ED Kakkis, J Muenzer, GE Tiller, L Waber, J Belmont, M Passage, ... New England Journal of Medicine 344 (3), 182-188, 2001 | 828 | 2001 |
| Recurrent reciprocal 1q21. 1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities N Brunetti-Pierri, JS Berg, F Scaglia, J Belmont, CA Bacino, T Sahoo, ... Nature genetics 40 (12), 1466-1471, 2008 | 663 | 2008 |
| High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping DA Peiffer, JM Le, FJ Steemers, W Chang, T Jenniges, F Garcia, K Haden, ... Genome research 16 (9), 1136-1148, 2006 | 621 | 2006 |
| Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America R Kosoy, R Nassir, C Tian, PA White, LM Butler, G Silva, R Kittles, ... Human mutation 30 (1), 69-78, 2009 | 592 | 2009 |
| Recurrent reciprocal 16p11. 2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size M Shinawi, P Liu, SHL Kang, J Shen, JW Belmont, DA Scott, FJ Probst, ... Journal of medical genetics 47 (5), 332-341, 2010 | 580 | 2010 |
| Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease F Scaglia, JA Towbin, WJ Craigen, JW Belmont, EOB Smith, SR Neish, ... Pediatrics 114 (4), 925-931, 2004 | 554 | 2004 |
| Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay P Hardenbol, F Yu, J Belmont, J MacKenzie, C Bruckner, T Brundage, ... Genome research 15 (2), 269-275, 2005 | 489 | 2005 |
| Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents JR Botkin, JW Belmont, JS Berg, BE Berkman, Y Bombard, IA Holm, ... The American Journal of Human Genetics 97 (1), 6-21, 2015 | 460 | 2015 |
| Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation SR Lalani, AM Safiullah, SD Fernbach, KG Harutyunyan, C Thaller, ... The American Journal of Human Genetics 78 (2), 303-314, 2006 | 448 | 2006 |
| CHARGE syndrome KD Blake, C Prasad Orphanet journal of rare diseases 1, 1-8, 2006 | 435 | 2006 |
| Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management L Meng, M Pammi, A Saronwala, P Magoulas, AR Ghazi, F Vetrini, ... JAMA pediatrics 171 (12), e173438-e173438, 2017 | 413 | 2017 |
