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. |
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| 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 |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 32371413 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience. – Name: Author Label: Authors Group: Au 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. – Name: TitleSource Label: Source Group: Src 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). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src 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 |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=32371413 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1101/mcs.a005231 Languages: – Code: eng Text: English Titles: – TitleFull: Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Miller CR – PersonEntity: Name: NameFull: Lee K – PersonEntity: Name: NameFull: Pfau RB – PersonEntity: Name: NameFull: Reshmi SC – PersonEntity: Name: NameFull: Corsmeier DJ – PersonEntity: Name: NameFull: Hashimoto S – PersonEntity: Name: NameFull: Dave-Wala A – PersonEntity: Name: NameFull: Jayaraman V – PersonEntity: Name: NameFull: Koboldt D – PersonEntity: Name: NameFull: Matthews T – PersonEntity: Name: NameFull: Mouhlas D – PersonEntity: Name: NameFull: Stein M – PersonEntity: Name: NameFull: McKinney A – PersonEntity: Name: NameFull: Grossman T – PersonEntity: Name: NameFull: Kelly BJ – PersonEntity: Name: NameFull: White P – PersonEntity: Name: NameFull: Magrini V – PersonEntity: Name: NameFull: Wilson RK – PersonEntity: Name: NameFull: Mardis ER – PersonEntity: Name: NameFull: Cottrell CE IsPartOfRelationships: – BibEntity: Dates: – D: 12 M: 06 Text: 2020 Jun 12 Type: published Y: 2020 Identifiers: – Type: issn-electronic Value: 2373-2873 Numbering: – Type: volume Value: 6 – Type: issue Value: 3 Titles: – TitleFull: Cold Spring Harbor molecular case studies Type: main |
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