Donna M. Martin

University of Michigan — United States

Medicine · Health Sciences

47h-index10.1kcitations174works3.02yr avg
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Research Topics

Congenital Ear and Nasal Anomalies(54), Tracheal and airway disorders(35), Congenital heart defects research(23), Genomic variations and chromosomal abnormalities(18), Genetics and Neurodevelopmental Disorders(17)

Publications173 total

A clinical and genotype-phenotype analysis of MACF1 variants
The American Journal of Human Genetics·2025· 1 citedOpen Access
A novel cardiomyopathy phenotype linked to a CHD7 missense variant
Scientific Reports·2025Open Access
Where to start? The Irish Emergency Department Antimicrobial Discharge (EDAD) study: a multicentre, prospective cohort analysis
JAC-Antimicrobial Resistance·2024· 1 citedOpen Access
CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development
Proceedings of the National Academy of Sciences·2024· 10 citedOpen Access
A road map for the treatment of pediatric diffuse midline glioma
Cancer Cell·2023· 18 citedOpen Access
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
Human Genetics·2023· 11 citedOpen Access
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder
Human Genetics and Genomics Advances·2023· 5 citedOpen Access
Practical considerations for reinterpretation of individual genetic variants
Genetics in Medicine·2023· 16 citedOpen Access
Chromatin remodeler Chd7 regulates photoreceptor development and outer segment length
Experimental Eye Research·2022· 5 citedOpen Access
Loss of the chromatin remodeler CHD7 impacts glial cells and myelination in the mouse cochlear spiral ganglion
Hearing Research·2022· 4 citedOpen Access
Regulation of cellular LDL uptake by <i>PROX1</i> and <i>CHD7</i>
2022· 1 citedOpen Access
GIGYF1 disruption associates with autism and impaired IGF-1R signaling
Journal of Clinical Investigation·2022· 28 citedOpen Access
Aberrant extracellular matrix and cardiac development in models lacking the PR-DUB component ASXL3
2022· 2 citedOpen Access
Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines
Genetics in Medicine·2022· 28 citedOpen Access
Chromatin remodeler Chd7 regulates photoreceptor development and outer segment length
2022· 1 citedOpen Access
Corrigendum to “Delayed fusion and altered gene expression contribute to semicircular canal defects in Chd7 deficient mice” [Mech. Dev. 129 (9–12) (2012) 308–23 (PMID 22705977)]
Cells and Development·2022
Epigenetic mechanisms of inner ear development
Hearing Research·2022· 9 citedOpen Access
GJB2 gene therapy and conditional deletion reveal developmental stage-dependent effects on inner ear structure and function
Molecular Therapy — Methods & Clinical Development·2021· 43 citedOpen Access
COVID-19 mortality rates for persons with intellectual and developmental disabilities
International Journal of Biological and Pharmaceutical Sciences Archive·2021· 3 citedOpen Access
Single-cell lineage trajectories and chromatin regulators that initialize antiviral CD8 T cell ontogeny
2021· 2 citedOpen Access
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Frequent Co-authors

Catherine Lord(7), Stephan Sanders(6), Michael T. Murtha(6), Lambertus Klei(6), Daniel Moreno‐De‐Luca(6), Éric Fombonne(6), Daniel H. Geschwind(6), Dorothy E. Grice(6), Jennifer K. Lowe(6), Shrikant Mane(6), Eric M. Morrow(6), James S. Sutcliffe(6), Timothy W. Yu(6), David H. Ledbetter(6), Edwin H. Cook(6), Bernie Devlin(6), Matthew W. State(6), Elizabeth A. Hurd(6), Yehoash Raphael(6), Jennifer Skidmore(6)