Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

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Bibliographic Details
Title: Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Authors: Bekheirnia MR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas, USA.; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Bekheirnia N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Bainbridge MN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Gu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Coban Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Janzen NK; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Michael M; Texas Children's Hospital, Houston, Texas, USA.; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Brewer ED; Texas Children's Hospital, Houston, Texas, USA.; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Elenberg E; Texas Children's Hospital, Houston, Texas, USA.; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Kale AS; Texas Children's Hospital, Houston, Texas, USA.; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Riley AA; Texas Children's Hospital, Houston, Texas, USA.; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Swartz SJ; Texas Children's Hospital, Houston, Texas, USA.; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Srivaths PR; Texas Children's Hospital, Houston, Texas, USA.; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Wenderfer SE; Texas Children's Hospital, Houston, Texas, USA.; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Bodurtha J; Johns Hopkins Children's Center, Institute of Genetic Medicine, Baltimore, Maryland, USA., Applegate CD; Johns Hopkins Children's Center, Institute of Genetic Medicine, Baltimore, Maryland, USA., Velinov M; NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA., Myers A; Sanford Children's Hospital, Sioux Falls, South Dakota, USA., Borovik L; Sanford Children's Hospital, Sioux Falls, South Dakota, USA., Craigen WJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, USA., Gonzales ET; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Belmont JW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Roth DR; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Eng C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Braun MC; Texas Children's Hospital, Houston, Texas, USA.; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Lamb DJ; Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas, USA.; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2017 Apr; Vol. 19 (4), pp. 412-420. Date of Electronic Publication: 2016 Sep 22.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1530-0366
DOI:10.1038/gim.2016.131