Kim C Worley
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Explore the profile of Kim C Worley including associated specialties, affiliations and a list of published articles.
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102
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Recent Articles
1.
Zhao S, Sinson J, Li S, Rosenfeld J, Zapata G, Macakova K, et al.
medRxiv
. 2025 Feb;
PMID: 39974001
Clinical RNA-seq has become an essential tool for resolving variants of uncertain significance (VUS), particularly those affecting gene expression and splicing. However, most reference data and diagnostic protocols employ relatively...
2.
Valverde K, Hartman T, Reichert S, Bennett R, Dudek M, Duquette D, et al.
Genet Med Open
. 2024 Dec;
2(Suppl 2):101854.
PMID: 39712969
No abstract available.
3.
Coleman J, Baker J, Ketkar S, Butler A, Williams L, Hammonds-Odie L, et al.
J Am Med Inform Assoc
. 2024 Sep;
31(12):2857-2868.
PMID: 39269931
Objective: The All of Us Evenings with Genetics (EwG) Research Program at Baylor College of Medicine (BCM), funded to engage research scholars to work with the All of Us data,...
4.
Ritter D, Byun J, Wang J, Richards S, Luna P, Williams L, et al.
J Am Med Inform Assoc
. 2024 Sep;
31(12):2952-2957.
PMID: 39259934
Objective: Educational offerings to fill the bioinformatics knowledge gap are a key component to enhancing access and use of health data from the All of Us Research Program. We developed...
5.
LaFlamme C, Rastin C, Sengupta S, Pennington H, Russ-Hall S, Schneider A, et al.
Nat Commun
. 2024 Aug;
15(1):6524.
PMID: 39107278
Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but remain...
6.
Dai H, Ketkar S, Tan T, Atkinson E, Burrage L, Worley K, et al.
Hum Mol Genet
. 2024 Jul;
33(19):1643-1647.
PMID: 38970828
Systemic sclerosis (SSc) is a heterogeneous rare autoimmune fibrosing disorder affecting connective tissue. The etiology of systemic sclerosis is largely unknown and many genes have been suggested as susceptibility loci...
7.
Li S, Zhao S, Sinson J, Bajic A, Rosenfeld J, Neeley M, et al.
Am J Hum Genet
. 2024 Apr;
111(5):841-862.
PMID: 38593811
RNA sequencing (RNA-seq) has recently been used in translational research settings to facilitate diagnoses of Mendelian disorders. A significant obstacle for clinical laboratories in adopting RNA-seq is the low or...
8.
Malamon J, Farrell J, Xia L, Dombroski B, Das R, Way J, et al.
Life Sci Alliance
. 2024 Feb;
7(5).
PMID: 38418088
Detecting structural variants (SVs) in whole-genome sequencing poses significant challenges. We present a protocol for variant calling, merging, genotyping, sensitivity analysis, and laboratory validation for generating a high-quality SV call...
9.
Ma M, Zheng Y, Lu S, Pan X, Worley K, Burrage L, et al.
medRxiv
. 2024 Jan;
PMID: 38260438
Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4,5-bisphosphate into inositol 1,4,5-trisphosphate and diacylglycerol, important signaling molecules involved in many cellular processes. encodes the PLCγ1 isozyme that is broadly expressed. Hyperactive somatic...
10.
Mohajeri A, Vaseghi-Shanjani M, Rosenfeld J, Yang G, Lu H, Sharma M, et al.
J Med Genet
. 2023 Jun;
60(11):1092-1104.
PMID: 37316189
Background: Helios (encoded by ), a member of the Ikaros family of transcription factors, is a zinc finger protein involved in embryogenesis and immune function. Although predominantly recognised for its...