Kevin M. Bowling

Washington University in St. Louis — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

30h-index7.2kcitations88works1.22yr avg
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Research Topics

Genomics and Rare Diseases(52), Genomic variations and chromosomal abnormalities(18), Genetics and Neurodevelopmental Disorders(13), Cancer Genomics and Diagnostics(12), BRCA gene mutations in cancer(10)

Publications85 total

High depth targeted next-generation sequencing in vascular malformations
Human Molecular Genetics·2025
Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine
Journal of Molecular Diagnostics·2025· 1 citedOpen Access
Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
UNC Libraries·2025Open Access
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
UNC Libraries·2025Open Access
465 Genomic return of research service core with the precision health function of ICTS
Journal of Clinical and Translational Science·2025Open Access
The landscape of autosomal-dominant Alzheimer’s disease: global distribution and age of onset
Brain·2025· 7 citedOpen Access
Variant Scientists in Genomic Medicine: Survey of Demographics, Training, Duties, and Professional Development
2025Open Access
Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2
Neurotherapeutics·2025· 5 citedOpen Access
Age, Sex, and Anatomical Location Patterns in Cutaneous Pyogenic Granuloma Cases
JAMA Dermatology·2025· 2 citedOpen Access
Developing a genetic return of results service core
Journal of Clinical and Translational Science·2025Open Access
P715: Testing indications and diagnostic yield of clinical exome sequencing in a US Midwestern patient cohort
Genetics in Medicine Open·2025Open Access
P801: Low-level somatic convoluted indel variants in C-terminal region of TEK revealed by deep sequencing on patients with vascular malformations
Genetics in Medicine Open·2025Open Access
P324: Research analysis of clinical exome sequence data to detect diabetes-related genetic variation
Genetics in Medicine Open·2025Open Access
Comprehensive Analysis of <scp> <i>TEK</i> </scp> Variants in Patients With Vascular Malformations
Clinical Genetics·2024· 1 cited
Author response for "Comprehensive Analysis of &lt;scp&gt;&lt;i&gt;TEK&lt;/i&gt;&lt;/scp&gt; Variants in Patients With Vascular Malformations"
2024
Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism
Clinical Genetics·2024· 4 citedOpen Access
43. Challenges of classifying variants associated with disorders of somatic mosaicism and guideline creation
Cancer Genetics·2024
62. Profiling PIK3CA variants - a highlight of C2 domain variants in Disorders of Somatic Mosaicism
Cancer Genetics·2023
Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit
Journal of Personalized Medicine·2023· 13 citedOpen Access
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
Genetics in Medicine·2023· 17 citedOpen Access
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Frequent Co-authors

Gregory M. Cooper(36), Susan M. Hiatt(21), R Myers(17), Kyle B. Brothers(16), Stacy W. Gray(16), Michelle L. Thompson(15), Kelly M. East(15), Whitley V. Kelley(15), E. Martina Bebin(15), Gregory S. Barsh(14), Candice R. Finnila(13), James M.J. Lawlor(13), Laura M. Amendola(12), Michelle D. Amaral(12), Leslie G. Biesecker(11), Heidi L. Rehm(10), Gail P. Jarvik(9), Sawona Biswas(9), Edward J. Lose(9), Jonathan S. Berg(8)