Eric W. Klee

MACOM (United States) — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

53h-index10.7kcitations456works1.82yr avg
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Research Topics

Genomics and Rare Diseases(94), Cancer Genomics and Diagnostics(56), Genetics and Neurodevelopmental Disorders(46), Genomic variations and chromosomal abnormalities(45), Genetic factors in colorectal cancer(28)

Publications451 total

Enhancing Lung Cancer Treatment Outcome Prediction through Semantic Feature Engineering Using Large Language Models
ArXiv.org·2025Open Access
Enhancing Lung Cancer Treatment Outcome Prediction through Semantic Feature Engineering Using Large Language Models
arXiv (Cornell University)·2025Open Access
Genomic profiling reveals molecular heterogeneity in patients with Richter transformation (RT) and chronic lymphocytic leukemia (CLL)
Leukemia Research·2025Open Access
Exome Sequencing Enhances Screening for Familial Hypercholesterolemia Within a Multi-Site Healthcare System
Circulation Genomic and Precision Medicine·2025
Novel Identification of Genetic Variants in Musculoskeletal Pathways Implicated in Familial Femoroacetabular Impingement
Journal of Orthopaedic Research®·2025
Individualized Medicine in the Era of Artificial Intelligence
Mayo Clinic Proceedings·2025· 1 citedOpen Access
B-223 DMD Duplications Identified by Carrier Screening Should NOT Automatically Be Classified as [Likely] Pathogenic: Data from Long-Read Sequencing of 15 Cases
Clinical Chemistry·2025Open Access
PNPLA3 Gene Polymorphisms Affect MASLD Progression Severity Assessed by MRE in a Large Cohort of Clinical Patients
Proceedings on CD-ROM - International Society for Magnetic Resonance in Medicine. Scientific Meeting and Exhibition/Proceedings of the International Society for Magnetic Resonance in Medicine, Scientific Meeting and Exhibition·2025
Functional Characterization of Two Novel Biallelic <scp> <i>PIGV</i> </scp> Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report
American Journal of Medical Genetics Part A·2025Open Access
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencing
Genetics in Medicine·2025· 3 cited
Phenotypic Presentation and Longitudinal Characterization of Hereditary ATTRv Amyloidosis in Previously Undiagnosed Family Members
JACC Advances·2025· 3 citedOpen Access
Significance of Common Genetic Variants Associated with Non-Ischaemic Cardiomyopathy in the General Population
European Journal of Heart Failure·2025
POS1370 TOWARDS REVOLUTIONIZING RHEUMATOID ARTHRITIS CARE USING GENETIC INFORMATION VIA A NOVEL EXOMIC TRANSFORMER
Annals of the Rheumatic Diseases·2025Open Access
A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1
BMC Medical Genomics·2025Open Access
Clinical Bioinformatician Body of Knowledge—Bioinformatics and Software Core
Journal of Molecular Diagnostics·2025· 4 cited
Exome sequencing identifies genetic-positive familial hypercholesterolemia within a multi-site healthcare system
Journal of clinical lipidology·2025
Abstract 2429: A multi-modal learning framework to integrate digital pathology image and multi-omics data in breast cancer
Cancer Research·2025
Rethinking the pathogenicity of intragenic <i>DMD</i> duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing
2025Open Access
UNISOM: Unified Somatic Calling and Machine Learning-based Classification Enhance the Discovery of CHIP
Genomics Proteomics & Bioinformatics·2025· 1 citedOpen Access
Mucopolysaccharidosis Type IIIA Presenting as Hypertrophic Cardiomyopathy
Circulation Heart Failure·2025
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Frequent Co-authors

Margot A. Cousin(9), Gavin R. Oliver(6), Gianrico Farrugia(6), Matthew J. Ferber(6), Brendan C. Lanpher(6), Konstantinos N. Lazaridis(5), Saurabh Baheti(5), Filippo Pinto e Vairo(5), Laura Schultz‐Rogers(5), Dusica Babovic‐Vuksanovic(5), Patrick R. Blackburn(5), George G. Klee(5), Asha Nair(4), Sumit Middha(4), Yan W. Asmann(4), Jean‐Pierre Kocher(4), Suzette J. Bielinski(4), Jennifer B. McCormick(4), Eric D. Wieben(4), Linnea M. Baudhuin(4)