Kevin M Bowling
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Explore the profile of Kevin M Bowling including associated specialties, affiliations and a list of published articles.
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36
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1794
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Recent Articles
1.
Liu H, Marsh T, Shi X, Renton A, Bowling K, Ziegemeier E, et al.
Brain
. 2025 Feb;
PMID: 39903689
We present a comprehensive global analysis of genetic variants associated with autosomal-dominant Alzheimer's disease (ADAD). A total of 550 variants in the APP, PSEN1, and PSEN2 genes were identified, of...
2.
Dube U, Corliss M, Bowling K, Heusel J, Coughlin C
JAMA Dermatol
. 2025 Jan;
PMID: 39841456
Importance: Cutaneous pyogenic granulomas (PGs) are commonly encountered, benign, vascular tumors, in which epidemiologic factors have been variably reported, in part, due to sample size limitations and a focus on...
3.
Ghasemi R, Corliss M, Bowling K, Krysiak K, Walker J, Dickson A, et al.
Clin Genet
. 2024 Dec;
107(4):458-462.
PMID: 39632338
Pathogenic variants in the receptor tyrosine kinase TIE2, encoded by TEK, are known to cause vascular malformations (VMs). In this study, we retrospectively reviewed the deidentified data generated through clinical...
4.
Leon-Quintero F, Bowling K, Dickson A, Corliss M, Schroeder M, Neidich J, et al.
Clin Genet
. 2024 Oct;
107(3):261-270.
PMID: 39434542
Disorders of somatic mosaicism (DoSMs) are rare genetic disorders arising from postzygotic alteration leading to segmental/nonsegmental disease. Current professional guidelines for standardized variant interpretation focus on germline and cancer variants,...
5.
Lemke A, Thompson M, Gimpel E, McNamara K, Rich C, Finnila C, et al.
J Pers Med
. 2023 Jul;
13(7).
PMID: 37511639
Background: It is critical to understand the wide-ranging clinical and non-clinical effects of genome sequencing (GS) for parents in the NICU context. We assessed parents' experiences with GS as a...
6.
Felker S, Lawlor J, Hiatt S, Thompson M, Latner D, Finnila C, et al.
Genet Med
. 2023 May;
25(8):100884.
PMID: 37161864
Purpose: Neurodevelopmental disorders (NDDs) often result from rare genetic variation, but genomic testing yield for NDDs remains below 50%, suggesting that clinically relevant variants may be missed by standard analyses....
7.
Felker S, Lawlor J, Hiatt S, Thompson M, Latner D, Finnila C, et al.
bioRxiv
. 2023 Jan;
PMID: 36711854
Purpose: Neurodevelopmental disorders (NDDs) often result from rare genetic variation, but genomic testing yield for NDDs remains around 50%, suggesting some clinically relevant rare variants may be missed by standard...
8.
Bowling K, Thompson M, Kelly M, Scollon S, Slavotinek A, Powell B, et al.
Genome Med
. 2022 Nov;
14(1):131.
PMID: 36414972
Background: The uptake of exome/genome sequencing has introduced unexpected testing results (incidental findings) that have become a major challenge for both testing laboratories and providers. While the American College of...
9.
Bowling K, Thompson M, Finnila C, Hiatt S, Latner D, Amaral M, et al.
Genet Med
. 2021 Dec;
24(4):851-861.
PMID: 34930662
Purpose: SouthSeq is a translational research study that undertook genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder. Recruitment targeted racial/ethnic minorities and rural, medically underserved areas...
10.
Hiatt S, Lawlor J, Handley L, Ramaker R, Rogers B, Partridge E, et al.
HGG Adv
. 2021 May;
2(2).
PMID: 33937879
Exome and genome sequencing have proven to be effective tools for the diagnosis of neurodevelopmental disorders (NDDs), but large fractions of NDDs cannot be attributed to currently detectable genetic variation....