Catherine E. Keegan

Catherine E. Keegan

Medical Genetics | Pediatrics

1540 East Hospital Drive
Floor 6
Ann Arbor, MI 48109

Last Updated: 09/26/2026

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Found 47 publications

Severe Nonketotic Hyperglycinemia in Twins Caused by GLDC Variants: The Importance of Accurate Prenatal Variant Interpretation, Counseling, and VUS Disclosure.

Severe Nonketotic Hyperglycinemia in Twins Caused by GLDC Variants: The Importance of Accurate Prenatal Variant Interpretation, Counseling, and VUS Disclosure.

Journal: Prenatal diagnosis

Published: January 08, 2026

ACMG Medical Directors' Special Interest Group survey: Current challenges for medical genetics clinics.

ACMG Medical Directors' Special Interest Group survey: Current challenges for medical genetics clinics.

Journal: Genetics in medicine open

Published: December 10, 2025

Long-read sequencing resolves the clinically relevant CYP21A2 locus, supporting a new clinical test for Congenital Adrenal Hyperplasia.

Long-read sequencing resolves the clinically relevant CYP21A2 locus, supporting a new clinical test for Congenital Adrenal Hyperplasia.

Journal: medRxiv : the preprint server for health sciences

Published: February 24, 2025

Variants in KLF4 affecting residue Asp441 cause an autosomal dominant syndromic ichthyosis.

Variants in KLF4 affecting residue Asp441 cause an autosomal dominant syndromic ichthyosis.

Journal: The British journal of dermatology

Published: December 01, 2024

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

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

Published: April 12, 2024

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

Journal: Cell death & disease

Published: July 14, 2023

Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.

Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.

Journal: Journal of medical genetics

Published: July 10, 2023

An Interdisciplinary Approach to Müllerian Outflow Tract Obstruction Associated with Cloacal Malformation and Cloacal Exstrophy.

An Interdisciplinary Approach to Müllerian Outflow Tract Obstruction Associated with Cloacal Malformation and Cloacal Exstrophy.

Journal: Journal of clinical medicine

Published: June 14, 2022

Differential impact of a dyskeratosis congenita mutation in TPP1 on mouse hematopoiesis and germline.

Differential impact of a dyskeratosis congenita mutation in TPP1 on mouse hematopoiesis and germline.

Journal: Life science alliance

Published: August 23, 2021

Trainee perspectives of COVID-19 impact on medical genetics education.

Trainee perspectives of COVID-19 impact on medical genetics education.

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

Published: September 30, 2020

Missense variant contribution to USP9X-female syndrome.

Missense variant contribution to USP9X-female syndrome.

Journal: NPJ genomic medicine

Published: August 07, 2020

Clinical Reasoning: A 12-month-old child with hypotonia and developmental delays.

Clinical Reasoning: A 12-month-old child with hypotonia and developmental delays.

Journal: Neurology

Published: July 17, 2020

Showing 1-12 of 47

Last Updated: 09/26/2026