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Author Details

Jacques S Beckmann
University of Lausanne
1970
344
100
PMIDPaper TitleJournal TitlePublished Year
35705716The GA4GH Phenopacket schema defines a computable representation of clinical data.Nat Biotechnol2022
35705716The GA4GH Phenopacket schema defines a computable representation of clinical data.Nat Biotechnol2022
32989287Genome-wide association study identifies 48 common genetic variants associated with handedness.Nat Hum Behav2021
32989287Genome-wide association study identifies 48 common genetic variants associated with handedness.Nat Hum Behav2021
34664389COVID19 Disease Map, a computational knowledge repository of virus-host interaction mechanisms.Mol Syst Biol2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
34664389COVID19 Disease Map, a computational knowledge repository of virus-host interaction mechanisms.Mol Syst Biol2021
32471853Correction: Peroxisomal and microsomal lipid pathways associated with resistance to hepatic steatosis and reduced pro-inflammatory state.J Biol Chem2020
32246132A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer.Nat Genet2020
32471853Correction: Peroxisomal and microsomal lipid pathways associated with resistance to hepatic steatosis and reduced pro-inflammatory state.J Biol Chem2020
32246132A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer.Nat Genet2020
29778275Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.Biol Psychiatry2018
29778275Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.Biol Psychiatry2018
27240531Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.Mol Psychiatry2017
28963451CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.Nat Commun2017
27240531Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.Mol Psychiatry2017
28963451CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.Nat Commun2017
26741881Orexin and sleep quality in anorexia nervosa: Clinical relevance and influence on treatment outcome.Psychoneuroendocrinology2016
26742926The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.Biol Psychiatry2016
26741881Orexin and sleep quality in anorexia nervosa: Clinical relevance and influence on treatment outcome.Psychoneuroendocrinology2016
27039608[Bio-informatic and personalized medicine: Switzerland is pioneer].Rev Med Suisse2016
27402902New quality measure for SNP array based CNV detection.Bioinformatics2016
27355579Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.PLoS Genet2016
26607704IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation.J Allergy Clin Immunol2016
26631737Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.Diabetes2016
26629640Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.JAMA Psychiatry2016
2662089116p11.2 Locus modulates response to satiety before the onset of obesity.Int J Obes (Lond)2016
27604219RNAseq analysis of heart tissue from mice treated with atenolol and isoproterenol reveals a reciprocal transcriptional response.BMC Genomics2016
27993174Reconciling evidence-based medicine and precision medicine in the era of big data: challenges and opportunities.Genome Med2016
26631737Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.Diabetes2016
26629640Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.JAMA Psychiatry2016
2662089116p11.2 Locus modulates response to satiety before the onset of obesity.Int J Obes (Lond)2016
26607704IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation.J Allergy Clin Immunol2016
27604219RNAseq analysis of heart tissue from mice treated with atenolol and isoproterenol reveals a reciprocal transcriptional response.BMC Genomics2016
27993174Reconciling evidence-based medicine and precision medicine in the era of big data: challenges and opportunities.Genome Med2016
27355579Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.PLoS Genet2016
27402902New quality measure for SNP array based CNV detection.Bioinformatics2016
26742926The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.Biol Psychiatry2016
27039608[Bio-informatic and personalized medicine: Switzerland is pioneer].Rev Med Suisse2016
25546530Can we afford to sequence every newborn baby's genome?Hum Mutat2015
25546530Can we afford to sequence every newborn baby's genome?Hum Mutat2015
25724200A single epidermal stem cell strategy for safe ex vivo gene therapy.EMBO Mol Med2015
25937446A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.Am J Hum Genet2015
25673413Genetic studies of body mass index yield new insights for obesity biology.Nature2015
25421402The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.Mol Psychiatry2015
26010633Copy number variations and cognitive phenotypes in unselected populations.JAMA2015
26426971The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.PLoS Genet2015
26426971The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.PLoS Genet2015
26010633Copy number variations and cognitive phenotypes in unselected populations.JAMA2015
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Collaborators

University of Lausanne
Co-authored papers 39
Lausanne University Hospital and University of Lausanne
Co-authored papers 36
University of Lausanne
Co-authored papers 35
Centre hospitalier universitaire vaudois
Co-authored papers 29
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Co-authored papers 28
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King's College London
Co-authored papers 26
Co-authored papers 25
University of Lausanne
Co-authored papers 25
McGill University
Co-authored papers 24
Co-authored papers 24
Co-authored papers 24
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 23
German Research Center for Cardiovascular Disease (DZHK)
Co-authored papers 23
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Co-authored papers 23
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Co-authored papers 22
University of Iceland
Co-authored papers 22
Erasmus University Medical Center
Co-authored papers 22
Co-authored papers 21
Co-authored papers 21
University of Iceland
Co-authored papers 21
Harvard T.H. Chan School of Public Health
Co-authored papers 21
National Institute on Aging
Co-authored papers 21
Co-authored papers 21
University of Michigan School of Public Health ann arbor
Co-authored papers 20
University of Oxford
Co-authored papers 20
University of Maryland School of Medicine
Co-authored papers 20