Paula C. Goldenberg

Medical Genetics | Pediatrics

3333 Burnet Ave. Cardiology Ml 2003
Cincinnati, OH 45229

Last Updated: 09/26/2026

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Found 22 publications

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

Journal: HGG advances

Published: November 26, 2025

Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report.

Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report.

Journal: Pediatrics

Published: July 20, 2025

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

Journal: American journal of human genetics

Published: November 19, 2024

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.

Journal: Frontiers in genetics

Published: March 21, 2023

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

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

Published: February 17, 2023

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.

Journal: Brain : a journal of neurology

Published: June 17, 2022

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.

Journal: American journal of medical genetics. Part A

Published: October 20, 2021

Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease.

Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease.

Journal: Frontiers in pharmacology

Published: July 27, 2021

Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3.

Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3.

Journal: Ophthalmic genetics

Published: February 23, 2021

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.

Journal: Frontiers in genetics

Published: February 03, 2021

Carotid artery mobilization prior to pharyngeal flap inset for patients with 22q11.2 deletion syndrome.

Carotid artery mobilization prior to pharyngeal flap inset for patients with 22q11.2 deletion syndrome.

Journal: International journal of pediatric otorhinolaryngology

Published: November 15, 2020

A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy.

A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy.

Journal: The Journal of pediatrics

Published: April 28, 2020

Showing 1-12 of 22

Last Updated: 09/26/2026