Jacques S Beckmann

发表

A modular approach for integrative analysis of large-scale gene-expression and drug-response data

Sven Bergmann, Zoltán Kutalik, Jacques S Beckmann, 2008, Nature Biotechnology.

Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy

Sebastiaan Overeem, Poul Jennum, Johannes Mathis, 2010, Nature Genetics.

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Thomas Meitinger, Inês Barroso, Peter Kraft, 2010, Nature Genetics.

Methods for testing association between uncertain genotypes and quantitative traits.

Sven Bergmann, Zoltán Kutalik, Vincent Mooser, 2011, Biostatistics.

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.

Sven Bergmann, Niklas Krumm, Bradley P. Coe, 2014, American journal of human genetics.

Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort

C. V. Jongeneel, Sven Bergmann, Zoltán Kutalik, 2012, BMC Genomics.

CUBN is a gene locus for albuminuria.

Sylvia Stracke, Ming-Huei Chen, Luigi Ferrucci, 2011, Journal of the American Society of Nephrology : JASN.

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Thomas Meitinger, Inês Barroso, Peter Kraft, 2011, Nature Genetics.

Can We Afford to Sequence Every Newborn Baby's Genome?

Jacques S Beckmann, J. Beckmann, 2015, Human mutation.

Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk

Christian Gieger, Xiaofeng Zhu, Paolo Vineis, 2011, Nature.

Sharing data between LSDBs and central repositories

Sue Povey, Mauno Vihinen, Johan T den Dunnen, 2009, Human mutation.

In Vitro Whole-Genome Analysis Identifies a Susceptibility Locus for HIV-1

Patrick Taffé, Amalio Telenti, Jacques S Beckmann, 2008, PLoS biology.

A multi-SNP locus-association method reveals a substantial fraction of the missing heritability.

Zoltán Kutalik, David Lamparter, John C Whittaker, 2012, American journal of human genetics.

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

Tsviya Olender, Doron Lancet, Shmuel Pietrokovski, 2002, European Journal of Human Genetics.

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

Christian Gieger, Inês Barroso, Meena Kumari, 2011, Nature Genetics.

Genetic male infertility and mutation of CATSPER ion channels

Marc Fellous, Jacques S Beckmann, J. Beckmann, 2010, European Journal of Human Genetics.

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

Yadav Sapkota, Thomas Meitinger, Andres Metspalu, 2017, Nature Communications.

Subtelomeric 6p deletion: Clinical and array‐CGH characterization in two patients

Marie-Claude Addor, Michael A Morris, Jacques S Beckmann, 2008, American journal of medical genetics. Part A.

A unique set of SH3–SH3 interactions controls IB1 homodimerization

Ole Kristensen, Jacques S Beckmann, J. Beckmann, 2006, The EMBO journal.

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Isabelle Richard, Charles E Jackson, Mayana Zatz, 1995, Cell.

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

Claude Bouchard, Beverley Balkau, Bengt Sennblad, 2012, Nature Genetics.

Peroxisomal and Microsomal Lipid Pathways Associated with Resistance to Hepatic Steatosis and Reduced Pro-inflammatory State*

Matej Oresic, Carine Poussin, Mark Ibberson, 2010, The Journal of Biological Chemistry.

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

Christian Gieger, Jingyuan Fu, Thomas Meitinger, 2011, Nature Genetics.

AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia

Doron Lancet, Fabio Macciardi, Daniela Amann-Zalcenstein, 2006, European Journal of Human Genetics.

Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association study.

Sven Bergmann, Thomas Berg, Zoltán Kutalik, 2010, Gastroenterology.

Common variants near MC4R are associated with fat mass, weight and risk of obesity

Subhajyoti De, Inês Barroso, Philippe Froguel, 2008, Nature Genetics.

Variants in MTNR1B influence fasting glucose levels

Inês Barroso, Paul Scheet, Nicole Soranzo, 2009, Nature Genetics.

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

Claude Bouchard, William Wheeler, Peter Kraft, 2014 .