Scott E. Hickey

Medical Genetics | Pediatrics
700 Childrens Drive
Columbus, OH 43205

Last Updated: 09/26/2026

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Found 61 publications

Heterozygous CECR2 variants support a distinct neurodevelopmental syndrome with features overlapping cat eye syndrome.

Heterozygous CECR2 variants support a distinct neurodevelopmental syndrome with features overlapping cat eye syndrome.

Journal: HGG advances
Published: November 10, 2025

Familial 22q11.2 Duplication/Deletion Syndrome: A Testament to the Long-Standing Clinical Utility of FISH.

Familial 22q11.2 Duplication/Deletion Syndrome: A Testament to the Long-Standing Clinical Utility of FISH.

Journal: Clinical case reports
Published: June 24, 2025

Virilization and Hyperandrogenism in Turner Syndrome without Y Mosaicism: A Case Report and Review of the Literature.

Virilization and Hyperandrogenism in Turner Syndrome without Y Mosaicism: A Case Report and Review of the Literature.

Journal: Journal of pediatric and adolescent gynecology
Published: May 30, 2025

A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder.

A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder.

Journal: American journal of medical genetics. Part A
Published: April 28, 2025

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Journal: American journal of medical genetics. Part A
Published: December 20, 2024

Standardized Classification of Infants With Robin Sequence Using MicroNAPS: The Impact of Syndromes and Comorbidities.

Standardized Classification of Infants With Robin Sequence Using MicroNAPS: The Impact of Syndromes and Comorbidities.

Journal: Plastic and reconstructive surgery. Global open
Published: September 22, 2024

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 28, 2024

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Journal: The Journal of clinical investigation
Published: April 26, 2024

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

Journal: Nature communications
Published: January 30, 2024

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

Journal: medRxiv : the preprint server for health sciences
Published: January 23, 2024

Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.

Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.

Journal: Journal of clinical immunology
Published: January 22, 2024

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

Journal: Genetics in medicine open
Published: November 30, 2023
Showing 1-12 of 61

Last Updated: 09/26/2026