| Targeted exome sequencing of suspected mitochondrial disorders DS Lieber, SE Calvo, K Shanahan, NG Slate, S Liu, SG Hershman, ... Neurology 80 (19), 1762-1770, 2013 | 196 | 2013 |
| Anatomic and etiological classification of congenital limb deficiencies NB Gold, MN Westgate, LB Holmes American journal of medical genetics Part A 155 (6), 1225-1235, 2011 | 126 | 2011 |
| Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield CS Gubbels, GE VanNoy, JA Madden, D Copenheaver, S Yang, ... Genetics in Medicine 22 (4), 736-744, 2020 | 92 | 2020 |
| Aggregate penetrance of genomic variants for actionable disorders in European and African Americans P Natarajan, NB Gold, AG Bick, H McLaughlin, P Kraft, HL Rehm, ... Science Translational Medicine 8 (364), 364ra151-364ra151, 2016 | 68 | 2016 |
| Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome SE Sheppard, IM Campbell, MH Harr, N Gold, D Li, HT Bjornsson, ... American Journal of Medical Genetics Part A 185 (6), 1649-1665, 2021 | 41 | 2021 |
| Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization CLB Zawatsky, N Shah, K Machini, E Perez, KD Christensen, H Zouk, ... The American Journal of Human Genetics 108 (12), 2224-2237, 2021 | 39 | 2021 |
| ZMIZ1 variants cause a syndromic neurodevelopmental disorder R Carapito, EL Ivanova, A Morlon, L Meng, A Molitor, E Erdmann, ... The American Journal of Human Genetics 104 (2), 319-330, 2019 | 39 | 2019 |
| Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates MJ MacPherson, SL Erickson, D Kopp, P Wen, MR Aghanoori, S Kedia, ... Cell Reports 35 (10), 2021 | 19 | 2021 |
| Delayed diagnosis and racial bias in children with genetic conditions J Omorodion, L Dowsett, RD Clark, J Fraser, A Abu‐El‐Haija, A Strong, ... American Journal of Medical Genetics Part A 188 (4), 1118-1123, 2022 | 14 | 2022 |
| Perspectives of rare disease experts on newborn genome sequencing NB Gold, SM Adelson, N Shah, S Williams, SL Bick, ES Zoltick, JI Gold, ... JAMA Network Open 6 (5), e2312231-e2312231, 2023 | 12 | 2023 |
| Revisiting the roles of primary care clinicians in genetic medicine LE Hull, NB Gold, KA Armstrong JAMA 324 (16), 1607-1608, 2020 | 12 | 2020 |
| Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder NB Gold, D Li, A Chassevent, FJ Kaiser, I Parenti, TM Strom, FJ Ramos, ... Clinical Genetics 98 (6), 571-576, 2020 | 11 | 2020 |
| When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective MA Parisi, M Caggana, JL Cohen, NB Gold, JA Morris, JJ Orsini, TK Urv, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2023 | 10 | 2023 |
| Hepatic manifestations of urea cycle disorders A Strong, J Gold, NB Gold, M Yudkoff Clinical Liver Disease 18 (4), 198-203, 2021 | 9 | 2021 |
| The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare J Vockley, N Brunetti-Pierri, WK Chung, AJ Clarke, N Gold, RC Green, ... Genetics in Medicine 25 (4), 100022, 2023 | 8 | 2023 |
| Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization NB Gold, IM Campbell, SE Sheppard, WH Tan Scientific Reports 11 (1), 19791, 2021 | 8 | 2021 |
| Are we prepared to deliver gene‐targeted therapies for rare diseases? TW Yu, SF Kingsmore, RC Green, T MacKenzie, M Wasserstein, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2023 | 7 | 2023 |
| Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns NB Gold, SM Harrison, JH Rowe, J Gold, E Furutani, A Biffi, CN Duncan, ... Human Genetics and Genomics Advances 3 (1), 2022 | 7 | 2022 |
| Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders L O'Grady, SA Schrier Vergano, TL Hoffman, D Sarco, S Cherny, E Bryant, ... American Journal of Medical Genetics Part A 188 (9), 2750-2759, 2022 | 5 | 2022 |
| Contraceptive use in women with inherited metabolic disorders: a retrospective study and literature review JI Gold, NB Gold, DD DeLeon, R Ganetzky Orphanet Journal of Rare Diseases 17 (1), 41, 2022 | 4 | 2022 |
