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Employment (1)

Massachusetts General Hospital: Boston, Massachusetts, US

Attending physician (Department of Pediatrics)
Employment
Source: Self-asserted source
Nina Gold

Education and qualifications (4)

Children's Hospital of Philadelphia: Philadelphia, Pennsylvania, US

2019 | Fellowship in Medical Biochemical Genetics
Education
Source: Self-asserted source
Nina Gold

Boston Children's Hospital: Boston, Massachusetts, US

2018 | Combined Residency in Pediatrics and Medical Genetics
Education
Source: Self-asserted source
Nina Gold

Harvard Medical School: Boston, MA, US

2014 | MD
Education
Source: Self-asserted source
Nina Gold

Colby College: Waterville, ME, US

2009 | BA
Education
Source: Self-asserted source
Nina Gold

Works (26)

Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders

Genetics in Medicine
2025-01 | Journal article
DOI: 10.1016/j.gim.2024.101284
Contributors: Sarah L. Bick; Aparna Nathan; Hannah Park; Robert C. Green; Monica H. Wojcik; Nina B. Gold
Source: check_circle
Crossref

Genetic counselors’ perspectives on genomic screening of apparently healthy newborns in the United States

Genetics in Medicine Open
2024 | Journal article
DOI: 10.1016/j.gimo.2024.101885
Contributors: Maya C. del Rosario; Kathleen B. Swenson; Stephanie Coury; Jennifer Schwab; Robert C. Green; Nina B. Gold
Source: check_circle
Crossref

Impact of Executive and Adaptive function on functional outcomes in adults with Maple Syrup Urine Disease

2024-05-17 | Preprint
DOI: 10.1101/2024.05.17.24307509
Contributors: Jessica I Gold; Alanna Strong; Nina B Gold; Marc Yudkoff; Dava Szalda; Sophia Jan; Lisa A Schwartz; Rebecca Ganetzky
Source: check_circle
Crossref

Ready or not, genomic screening of fetuses is already here

Genetics in Medicine
2024-01 | Journal article
DOI: 10.1016/j.gim.2023.101008
Contributors: Nina B. Gold; Allan Nadel; Robert C. Green
Source: check_circle
Crossref

Delayed diagnosis and racial bias in children with genetic conditions

American Journal of Medical Genetics Part A
2022-04 | Journal article
DOI: 10.1002/ajmg.a.62626
Contributors: Jacklyn Omorodion; Leah Dowsett; Robin D. Clark; Jamie Fraser; Aya Abu‐El‐Haija; Alanna Strong; Monica H. Wojcik; Allison S. Bryant; Nina B. Gold
Source: check_circle
Crossref

Reevaluating the “right not to know” in genomics research

Genetics in Medicine
2022-02 | Journal article
DOI: 10.1016/j.gim.2021.10.003
Contributors: Nina B. Gold; Robert C. Green
Source: check_circle
Crossref

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

Orphanet journal of rare diseases
2022-02-08 | Journal article
DOI: 10.1186/s13023-022-02188-x
PMID: 35135572
Source: Self-asserted source
Nina Gold

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

Neuropediatrics
2021-12-06 | Journal article
DOI: 10.1055/s-0041-1739133
PMID: 34872132
Source: Self-asserted source
Nina Gold

Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism.

Pediatric emergency care
2021-12-01 | Journal article
DOI: 10.1097/pec.0000000000001936
PMID: 31738301
Source: Self-asserted source
Nina Gold

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

American journal of human genetics
2021-11-08 | Journal article
DOI: 10.1016/j.ajhg.2021.10.005
PMID: 34752750
PMC: PMC8715145
Source: Self-asserted source
Nina Gold

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

Scientific reports
2021-10-05 | Journal article
DOI: 10.1038/s41598-021-98752-9
PMID: 34611197
PMC: PMC8492651
Source: Self-asserted source
Nina Gold
grade
Preferred source (of 2)‎

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

HGG advances
2021-09-25 | Journal article
DOI: 10.1016/j.xhgg.2021.100059
PMID: 35047849
PMC: PMC8756496
Source: Self-asserted source
Nina Gold

Hepatic Manifestations of Urea Cycle Disorders.

Clinical liver disease
2021-09-01 | Journal article
DOI: 10.1002/cld.1115
PMID: 34745578
PMC: PMC8549711
Source: Self-asserted source
Nina Gold

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

American journal of medical genetics. Part A
2021-08-06 | Journal article
DOI: 10.1002/ajmg.a.62449
PMID: 34355836
Source: Self-asserted source
Nina Gold

The person looking out

American Journal of Medical Genetics Part C: Seminars in Medical Genetics
2021-06 | Journal article
DOI: 10.1002/ajmg.c.31885
Contributors: Nina Gold
Source: check_circle
Crossref

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

Cell reports
2021-06-01 | Journal article
DOI: 10.1016/j.celrep.2021.109226
PMID: 34107259
Source: Self-asserted source
Nina Gold

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

American journal of medical genetics. Part A
2021-03-30 | Journal article
DOI: 10.1002/ajmg.a.62124
PMID: 33783954
Source: Self-asserted source
Nina Gold
grade
Preferred source (of 2)‎

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

Clinical dysmorphology
2021-01-01 | Journal article
DOI: 10.1097/mcd.0000000000000357
PMID: 33136657
Source: Self-asserted source
Nina Gold

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

Clinical genetics
2020-10-12 | Journal article
DOI: 10.1111/cge.13851
PMID: 33009664
Source: Self-asserted source
Nina Gold

Revisiting the Roles of Primary Care Clinicians in Genetic Medicine.

JAMA
2020-10-01 | Journal article
DOI: 10.1001/jama.2020.18745
PMID: 32970138
Source: Self-asserted source
Nina Gold

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

Genetics in medicine : official journal of the American College of Medical Genetics
2019-11-29 | Journal article
DOI: 10.1038/s41436-019-0708-6
PMID: 31780822
PMC: PMC7127968
Source: Self-asserted source
Nina Gold

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

American journal of human genetics
2019-01-10 | Journal article
DOI: 10.1016/j.ajhg.2018.12.007
PMID: 30639322
PMC: PMC6369415
Source: Self-asserted source
Nina Gold

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

The Journal of pediatrics
2018-04-19 | Journal article
DOI: 10.1016/j.jpeds.2018.02.063
PMID: 29681447
Source: Self-asserted source
Nina Gold

Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.

Science translational medicine
2016-11-01 | Journal article
DOI: 10.1126/scitranslmed.aag2367
PMID: 27831900
PMC: PMC5823271
Source: Self-asserted source
Nina Gold

Targeted exome sequencing of suspected mitochondrial disorders.

Neurology
2013-04-17 | Journal article
DOI: 10.1212/wnl.0b013e3182918c40
PMID: 23596069
PMC: PMC3719425
Source: Self-asserted source
Nina Gold

Anatomic and etiological classification of congenital limb deficiencies.

American journal of medical genetics. Part A
2011-05-09 | Journal article
DOI: 10.1002/ajmg.a.33999
PMID: 21557466
Source: Self-asserted source
Nina Gold

Peer review (4 reviews for 3 publications/grants)

Review activity for Genetics in medicine open. (2)
Review activity for Human Genetics and Genomics advances. (1)
Review activity for Orphanet journal of rare diseases. (1)
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