Work

Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

Year: 2007

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1086/522591

Authors: Heather C. Mefford, Séverine Clauin, Andrew J. Sharp, Rikke S. Moller, Reinhard Ullmann, Raj Kapur, Dan Pinkel, Gregory M. Cooper, Mario Ventura, H. Hilger Ropers, Niels Tommerup, Evan E. Eichler, Christine Bellanne-Chantelot

Institutions: Seattle Children's Hospital, University of Washington, Assistance Publique – Hôpitaux de Paris, Pitié-Salpêtrière Hospital, University of Copenhagen, The Danish Epilepsy Association, Max Planck Institute for Molecular Genetics, University of California, San Francisco, UCSF Helen Diller Family Comprehensive Cancer Center, University of Bari Aldo Moro, Howard Hughes Medical Institute, Université Pierre-et-Marie-Curie

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: National Institutes of Health, National Heart, Lung, and Blood Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: Pharmacogenomics and Risk of Cardiovascular Disease, SEGMENTAL ANEUSOMY BETWEEN BLOCKS OF DUPLICATED DNA

OpenAlex ID: W1981504013

FWCI: 8.189

Cites: 32

Cited by: 274

Related to: 10