Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.

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Title: Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Authors: Miller CR; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pathology., Lee K; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pathology., Pfau RB; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pathology.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA., Reshmi SC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pathology.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA., Corsmeier DJ; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Hashimoto S; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Dave-Wala A; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Jayaraman V; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Koboldt D; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA., Matthews T; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Mouhlas D; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Stein M; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., McKinney A; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Grossman T; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Kelly BJ; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., White P; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA., Magrini V; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA., Wilson RK; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA., Mardis ER; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA., Cottrell CE; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pathology.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA.
Source: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2020 Jun 12; Vol. 6 (3). Date of Electronic Publication: 2020 Jun 12 (Print Publication: 2020).
Publication Type: Journal Article
Journal Info: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE
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  Data: Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
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  Data: <searchLink fieldCode="AU" term="%22Miller+CR%22">Miller CR</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pathology.<br /><searchLink fieldCode="AU" term="%22Lee+K%22">Lee K</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pathology.<br /><searchLink fieldCode="AU" term="%22Pfau+RB%22">Pfau RB</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pathology.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA.<br /><searchLink fieldCode="AU" term="%22Reshmi+SC%22">Reshmi SC</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pathology.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA.<br /><searchLink fieldCode="AU" term="%22Corsmeier+DJ%22">Corsmeier DJ</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.<br /><searchLink fieldCode="AU" term="%22Hashimoto+S%22">Hashimoto S</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.<br /><searchLink fieldCode="AU" term="%22Dave-Wala+A%22">Dave-Wala A</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.<br /><searchLink fieldCode="AU" term="%22Jayaraman+V%22">Jayaraman V</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.<br /><searchLink fieldCode="AU" term="%22Koboldt+D%22">Koboldt D</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA.<br /><searchLink fieldCode="AU" term="%22Matthews+T%22">Matthews T</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.<br /><searchLink fieldCode="AU" term="%22Mouhlas+D%22">Mouhlas D</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.<br /><searchLink fieldCode="AU" term="%22Stein+M%22">Stein M</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.<br /><searchLink fieldCode="AU" term="%22McKinney+A%22">McKinney A</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.<br /><searchLink fieldCode="AU" term="%22Grossman+T%22">Grossman T</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.<br /><searchLink fieldCode="AU" term="%22Kelly+BJ%22">Kelly BJ</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.<br /><searchLink fieldCode="AU" term="%22White+P%22">White P</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA.<br /><searchLink fieldCode="AU" term="%22Magrini+V%22">Magrini V</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA.<br /><searchLink fieldCode="AU" term="%22Wilson+RK%22">Wilson RK</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA.<br /><searchLink fieldCode="AU" term="%22Mardis+ER%22">Mardis ER</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA.<br /><searchLink fieldCode="AU" term="%22Cottrell+CE%22">Cottrell CE</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pathology.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA.
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  Data: <searchLink fieldCode="JN" term="%22101660017%22">Cold Spring Harbor molecular case studies</searchLink> [Cold Spring Harb Mol Case Stud] 2020 Jun 12; Vol. 6 (3). <i>Date of Electronic Publication: </i>2020 Jun 12 (<i>Print Publication: </i>2020).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cold+Spring+Harbor+Laboratory+Press%22">Cold Spring Harbor Laboratory Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101660017 <i>Publication Model: </i>Electronic-Print <i>Cited Medium: </i>Internet <i>ISSN: </i>2373-2873 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223732873%22">23732873 </searchLink><i>NLM ISO Abbreviation: </i>Cold Spring Harb Mol Case Stud <i>Subsets: </i>MEDLINE
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        Value: 10.1101/mcs.a005231
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