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All papers authored by Nina Gold

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2024 Nina B. Gold

ORCID

, Allan Nadel, Robert C. Green

Ready or not, genomic screening of fetuses is already here

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2022 Jessica I. Gold

ORCID

, Nina B. Gold

ORCID

, Diva D. DeLeon, Rebecca Ganetzky

Contraceptive use in women with inherited metabolic disorders: a retrospective study and literature review

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Nina B. Gold

ORCID

, Robert C. Green

ORCID

Reevaluating the “right not to know” in genomics research

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Jacklyn Omorodion

ORCID

ORCID

, Robin D. Clark, Jamie Fraser, Aya Abu‐El‐Haija, Alanna Strong

ORCID

, Monica H. Wojcik, Allison S. Bryant, Nina B. Gold

ORCID

Delayed diagnosis and racial bias in children with genetic conditions

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Nina B. Gold

ORCID

, Steven M. Harrison, Jared H. Rowe, Jessica Gold, Elissa Furutani, Alessandra Biffi, Christine N. Duncan, Akiko Shimamura, Leslie E. Lehmann, Robert C. Green

Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns

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2021 Jo Sourbron, Katrien Jansen, Davide Mei, Trine Bjørg Hammer, Rikke S. Møller, Nina B. Gold

ORCID

, Lauren O'Grady, Renzo Guerrini, Lieven Lagae

ORCID

SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy

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Carrie L. Blout Zawatsky, Nidhi Shah, Kalotina Machini, Emma Perez, Kurt D. Christensen, Hana Zouk, Marcie Steeves, Christopher Koch, Melissa Uveges, Janelle Shea, Nina Gold

ORCID

, Joel Krier, Natalie Boutin, Lisa Mahanta, Heidi L. Rehm and 5 other authors

Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization

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Nina B. Gold

ORCID

, Ian M. Campbell, Sarah E. Sheppard, Wen-Hann Tan

Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

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Alanna Strong, Jessica Gold, Nina B. Gold

ORCID

, Marc Yudkoff

Hepatic Manifestations of Urea Cycle Disorders

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Alanna Strong

ORCID

ORCID

, Kevin Meyers, Sandra Amaral, Susan Furth, Stacey Drant, Wendy Hsiao, Lauren Galea, Jessica Gold, Nina B. Gold

ORCID

, Jacqueline Leonard, Sonya Lopez, Elaine H. Zackai, Reed E. Pyeritz

Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes

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Melissa J. MacPherson, Sarah L. Erickson, Drayden Kopp, Pengqiang Wen, Mohamad-Reza Aghanoori, Shreeya Kedia, Kaylan Ml L. Burns, Antonio Vitobello, Frederic Tran Mau-Them

ORCID

, Nina B. Gold

ORCID

, William Brucker, Quentin Thomas

ORCID

, Louise Amlie-Wolf, Karen W. Gripp, Olaf Bodamer and 12 other authors

Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates

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Nina Gold

ORCID

The person looking out

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Sarah E. Sheppard

ORCID

, Ian M. Campbell

ORCID

, Margaret H. Harr, Nina Gold

ORCID

, Dong Li, Hans T. Bjornsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline R. Harris, Catherine Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au

ORCID

, John M. Graham and 90 other authors

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

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2020 Nina B. Gold

ORCID

, Katherine A. Nash, Joanna Perdomo, Daniel J. Zheng, Alexandra Power-Hays, Tyler Rainer, Fuki Hisama, Barbara Pober, Emily Feinberg

Delayed diagnosis of Williams–Beuren syndrome in an adolescent of Jamaican descent: examining racial disparities in genetics education

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Nina B. Gold

ORCID

, Dong Li

ORCID

, Anna Chassevent, Frank J. Kaiser, Ilaria Parenti

ORCID

, Tim M. Strom, Feliciano J. Ramos, Beatriz Puisac, Juan Pié, Kirsty McWalter, Maria J. Guillen Sacoto, Hong Cui, Reem Saadeh‐Haddad, Constance Smith‐Hicks, Lance Rodan and 2 other authors

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder

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Leland E. Hull, Nina B. Gold

ORCID

, Katrina A. Armstrong

Revisiting the Roles of Primary Care Clinicians in Genetic Medicine

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2019 Cynthia S. Gubbels

ORCID

, Grace E. VanNoy, Jill A. Madden, Deborah Copenheaver, Sandra Yang, Monica H. Wojcik, Nina B. Gold

ORCID

, Casie A. Genetti, Joan Stoler, Richard B. Parad, Sergei Roumiantsev, Olaf Bodamer, Alan H. Beggs, Jane Juusola, Pankaj B. Agrawal and 1 other authors

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

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Nina B. Gold

ORCID

, Amy Kritzer, Debra L. Weiner, Kenneth A. Michelson

Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism

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Deciphering Developmental Disorders Study, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Bruno Kieffer, Nicodème Paul, Angélique Pichot, Frédéric Tran Mau-Them

ORCID

, Antoine Hanauer, Lydie Naegely, Nolwenn Jean-Marçais, Tatiana Tvrdik, Susan M. Hiatt, Aline Kolmer and 46 other authors

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

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2018 Nina B. Gold

ORCID

, Jennifer A. Blumenthal, Ann E. Wessel, Deborah R. Stein, Adam Scott, Victor L. Fox, Amy Turner, Amy Kritzer, Farrah Rajabi, Katherine Peeler, Wen-Hann Tan

Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox

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