Neda S. Zadeh

Medical Genetics

211 South Main Street
Suite E
Orange, CA 92868

Last Updated: 09/26/2026

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Found 16 publications

Wispy, dystrophic hair in a pediatric patient: Expanding the differential with tricho-dento-osseus syndrome.

Wispy, dystrophic hair in a pediatric patient: Expanding the differential with tricho-dento-osseus syndrome.

Journal: JAAD case reports

Published: October 27, 2025

Cardiac pathology in a patient with a novel pathogenic variant c.703del (p.Ile235SerfsTer4) of the TAFAZZIN gene.

Cardiac pathology in a patient with a novel pathogenic variant c.703del (p.Ile235SerfsTer4) of the TAFAZZIN gene.

Journal: Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology

Published: February 11, 2025

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Journal: Epilepsia

Published: November 27, 2023

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Journal: Science translational medicine

Published: May 31, 2023

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 10, 2022

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Journal: Genome medicine

Published: November 23, 2021

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.

Journal: JAMA pediatrics

Published: September 27, 2021

Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.

Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.

Journal: American journal of human genetics

Published: February 09, 2021

Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.

Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.

Journal: American journal of medical genetics. Part A

Published: October 13, 2020

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

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

Journal: American journal of medical genetics. Part A

Published: September 28, 2020

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).

Journal: American journal of medical genetics. Part A

Published: March 11, 2019

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

Journal: American journal of human genetics

Published: April 13, 2017

Showing 1-12 of 16

Last Updated: 09/26/2026