Catherine E. Keegan

University of Michigan — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

32h-index4.1kcitations115works3.62yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Sexual Differentiation and Disorders(23), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities(16), Urological Disorders and Treatments(16), Telomeres, Telomerase, and Senescence(13), Genetics and Neurodevelopmental Disorders(12)

Publications114 total

0542 Variants in KLF4 affecting residue Asp441 cause a novel autosomal dominant syndromic ichthyosis
Journal of Investigative Dermatology·2025
Variants in <i>KLF4</i> affecting residue Asp441 cause an autosomal dominant syndromic ichthyosis
British Journal of Dermatology·2025· 5 cited
Long-read sequencing resolves the clinically relevant <i>CYP21A2</i> locus, supporting a new clinical test for Congenital Adrenal Hyperplasia
2025· 2 citedOpen Access
P370: Characteristic neural tube defects and overlap in OEIS complex and lumbar syndrome
Genetics in Medicine Open·2025Open Access
Dietitian Collaboration with Interprofessional Continuing Education (IPCE) to Increase Interprofessional Education (IPE) on Total Parenteral Nutrition Management (TPN)
Journal of the Academy of Nutrition and Dietetics·2024Open Access
Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases
Genetics in Medicine·2024· 4 citedOpen Access
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
Cell Death and Disease·2024· 19 citedOpen Access
P803: Cautionary tale on preconception counseling and genetic testing in a case of non-ketotic hyperglycinemia (NKH) in dichorionic diamniotic twins
Genetics in Medicine Open·2024Open Access
Intellectual disability syndrome associated with a homozygous founder variant in <i>SGSM3</i> in Ashkenazi Jews
Journal of Medical Genetics·2023· 1 cited
P353: KDM5C-related X-linked intellectual disability: A review of natural history and expansion of the phenotype
Genetics in Medicine Open·2023· 1 citedOpen Access
OR18-3 Case Series of 16 Patients With 17β-Hydroxysteroid Dehydrogenase Type 3 Deficiency at Five Children's Hospitals in the United States
Journal of the Endocrine Society·2022Open Access
An Interdisciplinary Approach to Müllerian Outflow Tract Obstruction Associated with Cloacal Malformation and Cloacal Exstrophy
Journal of Clinical Medicine·2022· 2 citedOpen Access
Differential impact of a dyskeratosis congenita mutation in TPP1 on mouse hematopoiesis and germline
Life Science Alliance·2021· 4 citedOpen Access
Differential impact of a dyskeratosis congenita mutation in TPP1 on mouse hematopoiesis and germline
2021· 1 citedOpen Access
TPP1 mutagenesis screens unravel shelterin interfaces and functions in hematopoiesis
JCI Insight·2021· 13 citedOpen Access
Opportunities for fellowship education: the first year of the Medical Biochemical Genetics Clinical Core Seminar Series
Molecular Genetics and Metabolism·2021
Trainee perspectives of COVID-19 impact on medical genetics education
Genetics in Medicine·2021· 5 citedOpen Access
Missense variant contribution to USP9X-female syndrome
npj Genomic Medicine·2020· 36 citedOpen Access
SLC20A1 Is Involved in Urinary Tract and Urorectal Development
Frontiers in Cell and Developmental Biology·2020· 28 citedOpen Access
Clinical Reasoning: A 12-month-old child with hypotonia and developmental delays
Neurology·2020· 6 citedOpen Access
page 1 of 6Next →

Frequent Co-authors

Éric Vilain(9), Gary D. Hammer(7), David E. Sandberg(7), Patricia Y. Fechner(5), Sally A. Camper(5), Beverly M. Yashar(5), Hayk Barseghyan(4), Emmanuèle C. Délot(4), Melissa Gardner(4), Lauren Mohnach(4), Margarett Shnorhavorian(4), Jeffrey W. Innis(3), Mark Hannibal(3), Margaret P Adam(3), Tobias Else(3), Bridget O’Connor(3), Ivan Maillard(3), Jane L. Schuette(3), Gail A. Osawa(3), I Károlyi(3)