NinaBethGoldMD

PubMed

• 7 citations
  Are we prepared to deliver gene-targeted therapies for rare diseases?
  Timothy W Yu, Stephen F Kingsmore, Robert C Green, Tippi MacKenzie, Melissa Wasserstein, Michele Caggana, Nina B Gold, Annie Kennedy, Priya S Kishnani, Matthew Might, ...> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2023 Mar 1
• 4 citations
  Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns
  Nina B. Gold, Steven M. Harrison, Jared H. Rowe, Jessica Gold, Elissa M. Furutani, Alessandra Biffi, Christine Duncan, Akiko Shimamura, Leslie Lehmann, Robert C. Green> ;HGG Advances. 2022 Jan 13
• 25 citations
  Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.
  Carrie L. Blout Zawatsky, Nidhi Shah, Kalotina Machini, Emma Perez, Kurt D. Christensen, Hana Zouk, Marcie A. Steeves, Christopher Koch, Melissa K Uveges, Janelle Shea...> ;American Journal of Human Genetics. 2021 Nov 8
• 1 citations
  Reevaluating the “right not to know” in genomics research
  Nina B. Gold, Robert C. Green> ;Genetics in Medicine. 2021 Nov 1
• 6 citations
  Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization
  Nina B. Gold, Ian M. Campbell, Sarah E Sheppard, Wen-Hann Tan> ;Scientific Reports. 2021 Oct 5
• 6 citations
  Hepatic Manifestations of Urea Cycle Disorders.
  Alanna Strong, Jessica Gold, Nina B. Gold, Marc Yudkoff> ;Clinical Liver Disease. 2021 Sep 1
• Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes
  Alanna Strong, Cara M. Skraban, Kevin E.C. Meyers, Sandra Amaral, Susan L. Furth, Stacey Drant, Wendy Hsiao, Lauren Galea, Jessica Gold, Nina B. Gold, Jacqueline Leona...> ;American Journal of Medical Genetics. Part A. 2021 Aug 6
• 10 citations
  Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates
  Melissa J. MacPherson, Sarah L. Erickson, Drayden Kopp, Pengqiang Wen, Mohamad-Reza Aghanoori, Shreeya Kedia, Kaylan M.L. Burns, Antonio Vitobello, Frédéric Tran Mau-T...> ;Cell Reports. 2021 Jun 8
• 1 citations
  The person looking out.
  Nina B. Gold> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2021 May 12
• 35 citations
  Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;American Journal of Medical Genetics. Part A. 2021 Mar 30
• 2 citations
  Delayed diagnosis of Williams-Beuren syndrome in an adolescent of Jamaican descent: examining racial disparities in genetics education.
  Nina B. Gold, Katherine A. Nash, Joanna Perdomo, Daniel J Zheng, Alexandra Power-Hays, Tyler Rainer, Fuki M. Hisama, Barbara R. Pober, Emily Feinberg> ;Clinical Dysmorphology. 2021 Jan 1
• 8 citations
  Revisiting the Roles of Primary Care Clinicians in Genetic Medicine.
  Leland E. Hull, Nina B. Gold, Katrina Armstrong> ;JAMA. 2020 Oct 27
• 9 citations
  Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.
  Nina B. Gold, Dong Li, Anna Chassevent, Frank J. Kaiser, Ilaria Parenti, Tim M. Strom, Feliciano J. Ramos, Beatriz Puisac, Juan Pié, Kirsty McWalter, Maria J. Guillen ...> ;Clinical Genetics. 2020 Oct 12
• 75 citations
  Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
  Cynthia S. Gubbels, Grace E. VanNoy, Jill A. Madden, Deborah Copenheaver, Sandra Yang, Monica H. Wojcik, Nina B. Gold, Casie A. Genetti, Joan M. Stoler, Richard B. Par...> ;Genetics in Medicine. 2020 Apr 1
• 1 citations
  Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism.
  Nina B. Gold, Amy Kritzer, Debra L. Weiner, Kenneth A. Michelson> ;Pediatric Emergency Care. 2019 Nov 13
• ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
  Carapito, R.,Ivanova, E. L.,Morlon, A.,Meng, L.,Molitor, A.,Erdmann, E.,Kieffer, B.,Pichot, A.,Naegely, L.,Kolmer, A.,Paul, N.,Hanauer, A.,Tran Mau-Them, F.,Jean-Marça...> ;Am. J. Hum. Genet.. 2019 Jan 15
• Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox
  Nina B. Gold, Jennifer Blumenthal, Ann Wessel, Deborah R. Stein, Adam Scott, Victor L. Fox, Amy Turner, Amy Kritzer, Farrah Rajabi, Katherine R. Peeler, Wen-Hann Tan> ;The Journal of Pediatrics. 2018 Jul 1
• 52 citations
  Aggregate penetrance of genomic variants for actionable disorders in European and African Americans
  Pradeep Natarajan, Nina B. Gold, Alexander G. Bick, Heather M. McLaughlin, Peter Kraft, Heidi L. Rehm, Gina M. Peloso, James G. Wilson, Adolfo Correa, Jonathan G. Seid...> ;Science Translational Medicine. 2016 Nov 9
• 127 citations
  Targeted exome sequencing of suspected mitochondrial disorders
  Daniel S. Lieber, Sarah E. Calvo, Kristy Shanahan, Nancy G. Slate, Shangtao Liu, Steven G. Hershman, Nina B. Gold, Brad Chapman, David R. Thorburn, Gerard T. Berry, Je...> ;Neurology. 2013 May 7
• 61 citations
  Anatomic and etiological classification of congenital limb deficiencies.
  Nina B. Gold, Marie-Noel Westgate, Lewis B. Holmes> ;American Journal of Medical Genetics. Part A. 2011 Jun 1
• 34 citations
  Levalbuterol versus racemic albuterol in the treatment of acute exacerbation of asthma in children.
  Madhu D Hardasmalani, Vincent A. DeBari, William G Bithoney, Nina B. Gold> ;Pediatric Emergency Care. 2005 Jul 1
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