Work

Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations

Year: 2012

Type: article

Study design: Observational Study

Source: Human Genetics

DOI: 10.1007/s00439-012-1181-3

Authors: Rajshekhar Chatterjee, Enrique Ramos, Mary Hoffman, Jessica VanWinkle, Daniel R. Martin, Thomas K. Davis, Masato Hoshi, Stanley P. Hmiel, Anne Beck, Keith Hruska, Doug Coplen, Helen Liapis, Robi Mitra, Todd Druley, Paul Austin, Sanjay Jain

Institution: Washington University in St. Louis

Language: English

Topic: Renal and related cancers

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Human Genome Research Institute, National Cancer Institute, National Institute of Diabetes and Digestive and Kidney Diseases, National Center for Research Resources, National Center for Advancing Translational Sciences

Awards: G2202404319, Washington University Center for Kidney Disease Research, G3275701594, G3801259457, G4050522769, G413336477, AGE AND TISSUE-SPECIFIC CHANGES IN GENOME-WIDE MAMMALIAN METHYLATION, G5925370325, G7911670593

OpenAlex ID: W2027740467

FWCI: 2.905

Cites: 41

Cited by: 91

Related to: 10