Dennis W. Bartholomew

Medical Genetics

700 Children's Drive
Columbus, OH 43205

Last Updated: 09/26/2026

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Found 33 publications

De novo variants in ATP2B1 lead to neurodevelopmental delay.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Journal: American journal of human genetics

Published: November 12, 2025

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder.

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder.

Journal: American journal of medical genetics. Part A

Published: March 23, 2025

Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome.

Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome.

Journal: HGG advances

Published: April 30, 2024

Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes.

Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes.

Journal: NPJ genomic medicine

Published: April 04, 2024

Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant.

Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant.

Journal: Journal of child neurology

Published: April 06, 2022

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.

Journal: Cold Spring Harbor molecular case studies

Published: December 17, 2021

De novo variants in ATP2B1 lead to neurodevelopmental delay.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Journal: American journal of human genetics

Published: October 14, 2021

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.

Journal: Science advances

Published: October 14, 2020

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

Journal: American journal of human genetics

Published: May 13, 2020

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.

Journal: JIMD reports

Published: May 05, 2020

Characterization of the renal phenotype in RMND1-related mitochondrial disease.

Characterization of the renal phenotype in RMND1-related mitochondrial disease.

Journal: Molecular genetics & genomic medicine

Published: July 09, 2019

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.

Journal: Molecular genetics and metabolism

Published: May 01, 2019

Showing 1-12 of 33

Last Updated: 09/26/2026