Cecelia P. Tamburro

Publications

137

Citations

H-Index

2019

Active since

Affiliations

National Human Genome Research Institute(Current)

Vanderbilt University Medical Center

Baylor College of Medicine

Harvard University

Cecelia P. Tamburro is an author at National Human Genome Research Institute specializing in molecular diagnostics, medicine, and health risk assessment.

Top concepts

MedicineMolecular DiagnosticsRiskGeneticsNeurologyManagementEpidemiologyNeuroscienceBiostatisticsNeurogenetics

Publications per year

2019–2020

Publications

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Oguz Kanca, Jonathan C. Andrews, Pei-Tseng Lee et al. · The American Journal of Human Genetics · 2019 · 55 citations · Full text

Wdr37 Are Associated, Mendelian Disorder, Genetic Disorder +9

Improving reporting standards for polygenic scores in risk prediction studies

Hannah Wand, Samuel A. Lambert, Cecelia P. Tamburro et al. · 2020 · 55 citations · Full text

Risk Model Validation, Polygenic Risk, Genetic Epidemiology +19

Genomic Medicine Year in Review: 2019

Teri A. Manolio, Carol J. Bult, Rex L. Chisholm et al. · The American Journal of Human Genetics · 2019 · 16 citations · Full text

Genomic Medicine Year, Medicine, Molecular Diagnostics +3

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Aashim Bhatia, Bret C. Mobley, Joy D. Cogan et al. · Clinical Imaging · 2019 · 11 citations · Full text

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