| A systematic review of antibody mediated immunity to coronaviruses: kinetics, correlates of protection, and association with severity AT Huang, B Garcia-Carreras, MDT Hitchings, B Yang, LC Katzelnick, ... Nature communications 11 (1), 4704, 2020 | 1086* | 2020 |
| Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease DB Beck, MA Ferrada, KA Sikora, AK Ombrello, JC Collins, W Pei, ... New England Journal of Medicine 383 (27), 2628-2638, 2020 | 730 | 2020 |
| Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries ME Talkowski, JA Rosenfeld, I Blumenthal, V Pillalamarri, C Chiang, ... Cell 149 (3), 525-537, 2012 | 642 | 2012 |
| Vacterl/vater association BD Solomon Orphanet journal of rare diseases 6, 1-12, 2011 | 471 | 2011 |
| Parent-of-origin-specific signatures of de novo mutations JM Goldmann, WSW Wong, M Pinelli, T Farrah, D Bodian, AB Stittrich, ... Nature genetics 48 (8), 935-939, 2016 | 316 | 2016 |
| New observations on maternal age effect on germline de novo mutations WSW Wong, BD Solomon, DL Bodian, P Kothiyal, G Eley, KC Huddleston, ... Nature communications 7 (1), 10486, 2016 | 305 | 2016 |
| Strategic vision for improving human health at The Forefront of Genomics ED Green, C Gunter, LG Biesecker, V Di Francesco, CL Easter, ... Nature 586 (7831), 683-692, 2020 | 243 | 2020 |
| Mutations in NOTCH1 cause Adams-Oliver syndrome AB Stittrich, A Lehman, DL Bodian, J Ashworth, Z Zong, H Li, P Lam, ... The American Journal of Human Genetics 95 (3), 275-284, 2014 | 188 | 2014 |
| Analysis of genotype–phenotype correlations in human holoprosencephaly BD Solomon, S Mercier, JI Vélez, DE Pineda‐Alvarez, A Wyllie, N Zhou, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2010 | 156 | 2010 |
| Holoprosencephaly M Muenke, B Solomon, S Odent American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2010 | 150 | 2010 |
| MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer ME Roberts, SA Jackson, LR Susswein, N Zeinomar, X Ma, ML Marshall, ... Genetics in Medicine 20 (10), 1167-1174, 2018 | 149 | 2018 |
| The clinical content of preconception care: women with chronic medical conditions AL Dunlop, BW Jack, JN Bottalico, MC Lu, A James, CS Shellhaas, ... American journal of obstetrics and gynecology 199 (6), S310-S327, 2008 | 148 | 2008 |
| Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates DL Bodian, E Klein, RK Iyer, WSW Wong, P Kothiyal, D Stauffer, ... Genetics in Medicine 18 (3), 221-230, 2016 | 139 | 2016 |
| Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association P Saisawat, S Kohl, AC Hilger, DY Hwang, HY Gee, GC Dworschak, ... Kidney international 85 (6), 1310-1317, 2014 | 133 | 2014 |
| Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations P Fergelot, M Van Belzen, J Van Gils, A Afenjar, CM Armour, B Arveiler, ... American Journal of Medical Genetics Part A 170 (12), 3069-3082, 2016 | 130 | 2016 |
| An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with … BD Solomon, LA Baker, KA Bear, BK Cunningham, PF Giampietro, ... The Journal of pediatrics 164 (3), 451-457. e1, 2014 | 125 | 2014 |
| Clinical genomic database BD Solomon, AD Nguyen, KA Bear, TG Wolfsberg Proceedings of the National Academy of Sciences 110 (24), 9851-9855, 2013 | 124 | 2013 |
| Analysis of component findings in 79 patients diagnosed with VACTERL association BD Solomon, DE Pineda‐Alvarez, MS Raam, SM Bous, AA Keaton, ... American Journal of Medical Genetics Part A 152 (9), 2236-2244, 2010 | 114 | 2010 |
| Clinical geneticists' views of VACTERL/VATER association BD Solomon, KA Bear, V Kimonis, A de Klein, DA Scott, C Shaw‐Smith, ... American Journal of Medical Genetics Part A 158 (12), 3087-3100, 2012 | 113 | 2012 |
| Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia BD Solomon, DE Pineda‐Alvarez, JZ Balog, D Hadley, AL Gropman, ... American Journal of Medical Genetics Part A 149 (11), 2543-2546, 2009 | 113 | 2009 |
