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Fundación Pública Galega de Medicina Xenómica

Homepage: xenomica.org
Alternate name: Genomic Medicine Group
ROR: 025h0r574
OpenAlex ID: I4210123801
Synaptic, transcriptional and chromatin genes disrupted in autism
2014 · The DDD Study, Silvia De Rubeis, et al. · Nature · 2,737
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New insights into the genetic etiology of Alzheimer’s disease and related dementias
2022 · Céline Bellenguez, Fahri Küçükali, et al. · Nature Genetics · 2,464
Transcriptome and genome sequencing uncovers functional variation in humans
2013 · Tuuli Lappalainen, Michael Sammeth, et al. · Nature · 1,885
Common variants conferring risk of schizophrenia
2009 · †Genetic Risk and Outcome in Psychosis (GROUP), Hreinn Stefansson, et al. · Nature · 1,682
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Association analysis identifies 65 new breast cancer risk loci
2017 · Kyriaki Michailidou, Sara Lindström, et al. · Nature · 1,413
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Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
2018 · Nasim Mavaddat, Kyriaki Michailidou, et al. · The American Journal of Human Genetics · 1,097
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Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci
2018 · The Profile Study, Fredrick R. Schumacher, et al. · Nature Genetics · 895
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A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3
2008 · Ian PM Tomlinson, Emily Webb, et al. · Nature Genetics · 562
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
2017 · Catherine M Phelan, Karoline B Kuchenbaecker, et al. · Nature Genetics · 502
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Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
2020 · Haoyu Zhang, Thomas U. Ahearn, et al. · Nature Genetics · 501
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Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
2014 · Katharina Wimmer, Christian P Kratz, et al. · Journal of Medical Genetics · 485
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Sequencing of Culex quinquefasciatus Establishes a Platform for Mosquito Comparative Genomics
2010 · Peter Arensburger, Karine Megy, et al. · Science · 471
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
2021 · David V. Conti, Burcu F. Darst, et al. · Nature Genetics · 462
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
2017 · Kym M. Boycott, Ana Rath, et al. · The American Journal of Human Genetics · 443
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Genetic insights into biological mechanisms governing human ovarian ageing
2021 · Katherine S. Ruth, Felix R. Day, et al. · Nature · 428
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
2017 · ABCTB Investigators, Roger L Milne, et al. · Nature Genetics · 421
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Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
2012 · Cheng Wang, Yulei Li, et al. · Nature Genetics · 415
Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing
2016 · Ana Latorre-Pellicer, Raquel Moreno-Loshuertos, et al. · Nature · 401
The Human Early-Life Exposome (HELIX): Project Rationale and Design
2014 · Martine Vrijheid, Rémy Slama, et al. · Environmental Health Perspectives · 374
Inferring ancestral origin using a single multiplex assay of ancestry-informative marker SNPs
2007 · C. Phillips, A. Salas, et al. · Forensic Science International Genetics · 370
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6
2011 · Yvonne Nitschke, Geneviève Baujat, et al. · The American Journal of Human Genetics · 347
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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
2013 · Annika Keller, Ana Westenberger, et al. · Nature Genetics · 323
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
2021 · Itziar de Rojas, Sonia Moreno-Grau, et al. · Nature Communications · 322
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
2014 · Dan E Arking, DCCT/EDIC, et al. · Nature Genetics · 319
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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
2015 · Andrea Legati, Donatella Giovannini, et al. · Nature Genetics · 314
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Works count: 1,212
Citation count: 120,100
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