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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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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
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PubType: Academic Journal
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  Data: 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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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Gambin+T%22">Gambin T</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Janzen+NK%22">Janzen NK</searchLink>; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Jhangiani+SN%22">Jhangiani SN</searchLink>; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Muzny+DM%22">Muzny DM</searchLink>; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Michael+M%22">Michael M</searchLink>; Texas Children's Hospital, Houston, Texas, USA.; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Brewer+ED%22">Brewer ED</searchLink>; 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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Yang+Y%22">Yang Y</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Srivaths+PR%22">Srivaths PR</searchLink>; Texas Children's Hospital, Houston, Texas, USA.; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Wenderfer+SE%22">Wenderfer SE</searchLink>; Texas Children's Hospital, Houston, Texas, USA.; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Bodurtha+J%22">Bodurtha J</searchLink>; Johns Hopkins Children's Center, Institute of Genetic Medicine, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Applegate+CD%22">Applegate CD</searchLink>; Johns Hopkins Children's Center, Institute of Genetic Medicine, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Velinov+M%22">Velinov M</searchLink>; NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.<br /><searchLink fieldCode="AU" term="%22Myers+A%22">Myers A</searchLink>; Sanford Children's Hospital, Sioux Falls, South Dakota, USA.<br /><searchLink fieldCode="AU" term="%22Borovik+L%22">Borovik L</searchLink>; Sanford Children's Hospital, Sioux Falls, South Dakota, USA.<br /><searchLink fieldCode="AU" term="%22Craigen+WJ%22">Craigen WJ</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Hanchard+NA%22">Hanchard NA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Lewis+RA%22">Lewis RA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Gonzales+ET%22">Gonzales ET</searchLink>; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Gibbs+RA%22">Gibbs RA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Belmont+JW%22">Belmont JW</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; 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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.
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