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Daniel S. Marchuk | Researchclopedia

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Daniel S. Marchuk

National Institute of Allergy and Infectious Diseases ORCID

16

Works

439

Citations

5

h-index

5

i10-index

Research Topics

Genomics and Rare Diseases Renal Diseases and Glomerulopathies Cancer Genomics and Diagnostics

Affiliations

University of North Carolina at Chapel Hill2017–2020

Boston Children's Hospital2025–2025

Harvard University2025–2025

Duke University2017–2017

National Institute of Allergy and Infectious Diseases2026–2026

Top Works

Increasing the diagnostic yield of exome sequencing by copy number variant analysis

Daniel S. Marchuk,Kristy Crooks,et al.

201899 citations

BRCA gene mutations in cancer

Genetic factors in colorectal cancer

Germline Analysis from Tumor–Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings

Bryce A. Seifert,Julianne O’Daniel,et al.

201698 citations

Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease

Gloria Haskell,Brian C. Jensen,et al.

201741 citations

Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family.

Gloria Haskell,Brian C. Jensen,et al.

20174 citations

Co‐occurring Down syndrome and <i>SUCLA2</i>‐related mitochondrial depletion syndrome

Natario L. Couser,Daniel S. Marchuk,et al.

20172 citations

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort

Katharina Lemberg,Mohamed A. Shalaby,et al.

20251 citations

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Kirk C. Wilhelmsen,Sharon E. Plon,et al.

20200 citations

Targeting Podocytes: Optimized Adeno-Associated Virus Delivery for Gene Therapy in a Neonatal Mouse

Ken Saida,Daniel S. Marchuk,et al.

20250 citations

DACH2: Potential Candidate Gene for Monogenic Steroid-Resistant Nephrotic Syndrome

Chander Prakash,Kirollos Yousef,et al.

20250 citations