Beckmann, Jacques S.

Genetic studies of body mass index yield new insights for obesity biology

Study, T. L. C., Locke, A. E., The ADIPOGen Consortium, The AGEN-BMI Working Group, The CARDIOGRAMplusC4D Consortium, The CKDGen Consortium, The, G. L. G. C., The, I. C. B. P., The MAGIC Investigators, The MuTHER Consortium, et al. (2015) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 4,534

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

MAGIC, Speliotes, E. K., on behalf of Procardis Consortium, Willer, C. J., Berndt, S. I., Monda, K. L., Thorleifsson, G., Jackson, A. U., Allen, H. L., Lindgren, C. M., et al. (2010) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 2,912

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Lango Allen, H., Estrada, K., Lettre, G., Berndt, S. I., Weedon, M. N., Rivadeneira, F., Willer, C. J., Jackson, A. U., Vedantam, S., Raychaudhuri, S., et al. (2010) · Nature

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 1,945

Defining the role of common variation in the genomic and biological architecture of adult human height

The Electronic Medical Records and Genomics (eMERGE) Consortium, Wood, A. R., The MIGen Consortium, The PAGE Consortium, Study, T. L. C., Esko, T., Yang, J., Vedantam, S., Pers, T. H., Gustafsson, S., et al. (2014) · Nature Genetics

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 1,853

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

The Prostate, L., Loos, R. J. F., KORA, Study, N. H., Initiative, D. G., Study, T. S., The Wellcome Trust Case Control Consortium, FUSION, Lindgren, C. M., Li, S., et al. (2008) · Nature Genetics

Genetic Associations and EpidemiologyRegulation of Appetite and Obesity

Cited by 1,325

Genome-wide association study identifies eight loci associated with blood pressure

Wellcome Trust Case Control Consortium, Newton-Cheh, C., Johnson, T., Gateva, V., Tobin, M. D., Bochud, M., Coin, L., Najjar, S. S., Zhao, J. H., Heath, S. C., et al. (2009) · Nature Genetics

Genetic Associations and EpidemiologyBlood Pressure and Hypertension Studies

Cited by 1,215

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

MAGIC, Heid, I. M., Jackson, A. U., Randall, J. C., Winkler, T. W., Qi, L., Steinthorsdottir, V., Thorleifsson, G., Zillikens, M. C., Speliotes, E. K., et al. (2010) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 931

Common variants associated with plasma triglycerides and risk for coronary artery disease

Do, R., Willer, C. J., Schmidt, E. M., Sengupta, S., Gao, C., Peloso, G. M., Gustafsson, S., Kanoni, S., Ganna, A., Chen, J., et al. (2013) · Nature Genetics

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 862

Genome-wide association analysis identifies 20 loci that influence adult height

Initiative, D. G., Weedon, M. N., The Wellcome Trust Case Control Consortium, Cambridge GEM Consortium, Lango, H., Lindgren, C. M., Wallace, C., Evans, D. M., Mangino, M., Freathy, R. M., et al. (2008) · Nature Genetics

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 826

Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

Jacquemont, S., Curie, A., des Portes, V., Torrioli, M. G., Berry-Kravis, E., Hagerman, R. J., Ramos, F. J., Cornish, K., He, Y., Paulding, C., et al. (2011) · Science Translational Medicine

Genetics and Neurodevelopmental DisordersGenetic Neurodegenerative Diseases

Cited by 609

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

Jacquemont, S., Coe, B. P., Hersch, M., Duyzend, M. H., Krumm, N., Bergmann, S., Beckmann, J. S., Rosenfeld, J. A., & Eichler, E. E. (2014) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 605

Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

Zanoni, P., Khetarpal, S. A., Larach, D. B., Hancock-Cerutti, W. F., Millar, J. S., Cuchel, M., DerOhannessian, S., Kontush, A., Surendran, P., Saleheen, D., et al. (2016) · Science

Cholesterol and Lipid MetabolismLipoproteins and Cardiovascular Health

Cited by 545

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., et al. (2010) · Nature

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 543

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 462

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Golzio, C., Willer, J., Talkowski, M. E., Oh, E. C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., Gusella, J. F., et al. (2012) · Nature

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 410

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

Kilpeläinen, T. O., Zillikens, M. C., Stančákova, A., Finucane, F. M., Ried, J. S., Langenberg, C., Zhang, W., Beckmann, J. S., Luan, J., Vandenput, L., et al. (2011) · Nature Genetics

Genetic Associations and EpidemiologyAdipokines, Inflammation, and Metabolic Diseases

Cited by 335

Genetic evidence of assortative mating in humans

Robinson, M. R., Kleinman, A., Graff, M., Vinkhuyzen, A. A. E., Couper, D., Miller, M. B., Peyrot, W. J., Abdellaoui, A., Zietsch, B. P., Nolte, I. M., et al. (2017) · Nature Human Behaviour

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 326

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Zufferey, F., Sherr, E. H., Beckmann, N. D., Hanson, E., Maillard, A. M., Hippolyte, L., Macé, A., Ferrari, C., Kutalik, Z., Andrieux, J., et al. (2012) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 326

The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways

Fukada, T., Civic, N., Furuichi, T., Shimoda, S., Mishima, K., Higashiyama, H., Idaira, Y., Asada, Y., Kitamura, H., Yamasaki, S., et al. (2008) · PLoS ONE

Trace Elements in HealthConnective tissue disorders research

Cited by 287

Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities

D’Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Macé, A., et al. (2016) · JAMA Psychiatry

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 277

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

16p11.2 European Consortium, Maillard, A. M., Ruef, A., Pizzagalli, F., Migliavacca, E., Hippolyte, L., Adaszewski, S., Dukart, J., Ferrari, C., Conus, P., et al. (2015) · Molecular Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 217

Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1

Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., et al. (2002) · The American Journal of Human Genetics

Hemoglobinopathies and Related DisordersErythrocyte Function and Pathophysiology

Cited by 168

A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer

Variant Interpretation for Cancer Consortium, Wagner, A. H., Walsh, B., Mayfield, G., Tamborero, D., Sonkin, D., Krysiak, K., Deu-Pons, J., Duren, R. P., Gao, J., et al. (2020) · Nature Genetics

Genomics and Rare DiseasesCancer Genomics and Diagnostics

Cited by 164

Genome-wide prediction of matrix attachment regions that increase gene expression in mammalian cells

Girod, P.-A., Nguyen, D.-Q., Calabrese, D., Puttini, S., Grandjean, M., Martinet, D., Regamey, A., Saugy, D., Beckmann, J. S., Bucher, P., et al. (2007) · Nature Methods

Genomics and Chromatin DynamicsVirus-based gene therapy research

Cited by 152