J. Beckmann

Harvard University — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

122h-index73.2kcitations874works4.62yr avg
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Research Topics

Muscle Physiology and Disorders(77), Genetic Associations and Epidemiology(57), Genomic variations and chromosomal abnormalities(49), Calpain Protease Function and Regulation(44), Genetic Mapping and Diversity in Plants and Animals(38)

Publications507 total

Can Food Waste Policies Promote Sustainability?: Relationships of Food Date Label Policies with Food Waste and Safety Outcomes
Sustainability·2025· 1 citedOpen Access
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy
Annals of Clinical and Translational Neurology·2024· 3 citedOpen Access
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants
JCI Insight·2024· 1 citedOpen Access
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy
2024Open Access
Drug-target identification in COVID-19 disease mechanisms using computational systems biology approaches
Frontiers in Immunology·2024· 18 citedOpen Access
A versatile and interoperable computational framework for the analysis and modeling of COVID-19 disease mechanisms
2022Open Access
The GA4GH Phenopacket schema defines a computable representation of clinical data
Nature Biotechnology·2022· 106 citedOpen Access
The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine
2021· 14 citedOpen Access
GA4GH: International policies and standards for data sharing across genomic research and healthcare
Cell Genomics·2021· 273 citedOpen Access
Great future or greedy venture: Precision medicine needs philosophy
Health Science Reports·2021· 2 citedOpen Access
Variants in MTNR1B influence fasting glucose levels
UNC Libraries·2020Open Access
Common variants near MC4R are associated with fat mass, weight and risk of obesity
UNC Libraries·2020Open Access
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
UNC Libraries·2020Open Access
Common variants associated with plasma triglycerides and risk for coronary artery disease
UNC Libraries·2020· 3 citedOpen Access
Discovery and refinement of loci associated with lipid levels
UNC Libraries·2020Open Access
Genome-wide meta-analysis of common variant differences between men and women
UNC Libraries·2020Open Access
Genome-wide association study identifies 48 common genetic variants associated with handedness
Nature Human Behaviour·2020· 148 citedOpen Access
Genomic Genetics and Plant Genetic Improvement
2020· 3 cited
Correction: Peroxisomal and microsomal lipid pathways associated with resistance to hepatic steatosis and reduced pro-inflammatory state.
Journal of Biological Chemistry·2020Open Access
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer
Nature Genetics·2020· 172 citedOpen Access
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Frequent Co-authors

Toby Johnson(11), Massimo Mangino(10), Tōnu Esko(8), Anne Jackson(8), Jian’an Luan(7), Markus Perola(7), Serena Sanna(7), Guðmar Þorleifsson(7), Caroline Hayward(7), Andrew A. Hicks(7), Péter Vollenweider(7), Panos Deloukas(7), Mary F. Feitosa(6), Lori L. Bonnycastle(6), Inga Prokopenko(6), Dawn Waterworth(6), Mark J. Caulfield(6), Gérard Waeber(6), Sven Bergmann(6), Christian Gieger(6)