Beth A. Kozel

National Institutes of Health — United States

Neuroscience · Life Sciences

29h-index3.3kcitations107works3.12yr avg
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Research Topics

Williams Syndrome Research(42), Connective tissue disorders research(25), Cardiomyopathy and Myosin Studies(9), Nuclear Receptors and Signaling(8), Genomic variations and chromosomal abnormalities(7)

Publications107 total

Retinal Vessel Dysfunction in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
Neurology Open Access·2026Open Access
Abstract DP245: Retinal Vessel Dysfunction in CADASIL: an Ultra-Widefield Fluorescein Angiography Study
Stroke·2026
In-depth profile analysis and developmental trends in Wechsler performance among individuals with Williams syndrome
Child Neuropsychology·2025Open Access
Sudden death and asymptomatic arrhythmia in chronic lymphocytic leukemia patients treated with ibrutinib
Heart Rhythm·2025
CRISPR-Based Gene Therapy: Implications for the Clinical Laboratory
Clinical Chemistry·2025
367. Inspire 7: Intellectual Disability Polygenic Risk Evaluation in 7q11.23 Deletion Syndrome
Biological Psychiatry·2025
Toward a rational therapeutic for elastin related disease: Key considerations for elastin based regenerative medicine strategies
Matrix Biology·2025· 5 citedOpen Access
Head and neck paraganglioma in Pacak-Zhuang syndrome
JNCI Cancer Spectrum·2025· 3 citedOpen Access
Phenotypic findings associated with variation in elastin
Human Genetics and Genomics Advances·2024· 1 citedOpen Access
Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping
2024Open Access
Phenotypic Findings Associated with Variation in Elastin
2024Open Access
Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort
American Journal of Medical Genetics Part A·2024· 5 citedOpen Access
Increased heart rate fragmentation in those with Williams–Beuren syndrome suggests nonautonomic mechanistic contributors to sudden death risk
American Journal of Physiology-Heart and Circulatory Physiology·2024· 2 cited
A comparative evaluation of ChatGPT 3.5 and ChatGPT 4 in responses to selected genetics questions
Journal of the American Medical Informatics Association·2024· 32 citedOpen Access
Abstract 3116: Elucidating The Molecular Progression Of Hereditary Vascular Dementia In A Novel Mouse Model
Arteriosclerosis Thrombosis and Vascular Biology·2024
Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome
Journal of the American Heart Association·2024· 5 citedOpen Access
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams–Beuren Syndrome
Journal of the American Heart Association·2024· 2 citedOpen Access
P212: Modifiers of arterial stenosis in Williams syndrome: Using genomics to discover drivers of vessel-specific outcomes
Genetics in Medicine Open·2024Open Access
Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice
Journal of Clinical Investigation·2023· 44 citedOpen Access
Abstract 17825: Heart Rate Fragmentation Analysis May Suggest Non-Autonomic Markers of Sudden Cardiac Death Risk in Adults With Williams-Beuren Syndrome
Circulation·2023
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Frequent Co-authors

Russell H. Knutsen(15), Robert P. Mecham(13), Barbara R. Pober(6), Thomas J. Broekelmann(5), Dorothy K. Grange(5), Joshua R. Danback(5), Mark Levin(5), Elaine C. Davis(4), Delong Liu(4), Marwan Shinawi(3), Jessica E. Wagenseil(3), Jessica L. Waxler(3), Christopher Ciliberto(3), Paul Kruszka(3), Yonit A. Addissie(3), Maximilian Muenke(3), Michael Lugo(3), Zoë C. Wong(3), Phoebe C. R. Parrish(3), Angela Troia(3)