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Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.

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Title: Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
Authors: Lemire G; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; These authors contributed equally., Sanchis-Juan A; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; These authors contributed equally., Russell K; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Baxter S; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Chao KR; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Singer-Berk M; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Groopman E; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Wong I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., England E; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Goodrich J; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Pais L; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Austin-Tse C; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., DiTroia S; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., O'Heir E; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Ganesh VS; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA., Wojcik MH; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Evangelista E; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Snow H; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Osei-Owusu I; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Fu J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Singh M; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Mostovoy Y; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Huang S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Garimella K; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Kirkham SL; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Neil JE; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA., Shao DD; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Walsh CA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA., Argili E; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Le C; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Gleeson J; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Shril S; Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Schneider R; Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Hildebrandt F; Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Sankaran VG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Division of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA., Madden JA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Beggs AH; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Agrawal PB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Bujakowska KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA., Place E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA., Pierce EA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Gallacher L; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Stark Z; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Tan T; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., White SM; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Töpf A; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Fleming MD; Harvard Medical School, Boston, MA, USA.; Department of Pathology, Boston Children's Hospital, Boston, MA, USA., Pollak MR; Harvard Medical School, Boston, MA, USA.; Division of Nephrology, Beth Israel Deaconess Medical Center, Boston, MA, USA., Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia., Pajusalu S; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia., Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.; University of Cape Town, Cape Town, South Africa., Bruwer Z; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.; University of Cape Town, Cape Town, South Africa., Ravenscroft G; University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Australia., Laing NG; University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Australia., MacArthur DG; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia., Rehm HL; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Talkowski ME; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Brand H; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Senior authors., O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Senior authors.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Oct 05. Date of Electronic Publication: 2023 Oct 05.
Publication Type: Preprint; Journal Article
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 37873196
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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Items – Name: Title
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  Data: Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Lemire+G%22">Lemire G</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Sanchis-Juan+A%22">Sanchis-Juan A</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Russell+K%22">Russell K</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Baxter+S%22">Baxter S</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Chao+KR%22">Chao KR</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Singer-Berk+M%22">Singer-Berk M</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Groopman+E%22">Groopman E</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Wong+I%22">Wong I</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22England+E%22">England E</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Goodrich+J%22">Goodrich J</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Pais+L%22">Pais L</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Austin-Tse+C%22">Austin-Tse C</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22DiTroia+S%22">DiTroia S</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22O'Heir+E%22">O'Heir E</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ganesh+VS%22">Ganesh VS</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Wojcik+MH%22">Wojcik MH</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Evangelista+E%22">Evangelista E</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Snow+H%22">Snow H</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Osei-Owusu+I%22">Osei-Owusu I</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Fu+J%22">Fu J</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Singh+M%22">Singh M</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Mostovoy+Y%22">Mostovoy Y</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Huang+S%22">Huang S</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Garimella+K%22">Garimella K</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Kirkham+SL%22">Kirkham SL</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Neil+JE%22">Neil JE</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Shao+DD%22">Shao DD</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Walsh+CA%22">Walsh CA</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Argili+E%22">Argili E</searchLink>; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Le+C%22">Le C</searchLink>; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Sherr+EH%22">Sherr EH</searchLink>; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Gleeson+J%22">Gleeson J</searchLink>; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Shril+S%22">Shril S</searchLink>; Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Schneider+R%22">Schneider R</searchLink>; Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Hildebrandt+F%22">Hildebrandt F</searchLink>; Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Sankaran+VG%22">Sankaran VG</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Division of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Madden+JA%22">Madden JA</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Genetti+CA%22">Genetti CA</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Beggs+AH%22">Beggs AH</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Agrawal+PB%22">Agrawal PB</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Bujakowska+KM%22">Bujakowska KM</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Place+E%22">Place E</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Pierce+EA%22">Pierce EA</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Donkervoort+S%22">Donkervoort S</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Bönnemann+CG%22">Bönnemann CG</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Gallacher+L%22">Gallacher L</searchLink>; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Stark+Z%22">Stark Z</searchLink>; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Tan+T%22">Tan T</searchLink>; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22White+SM%22">White SM</searchLink>; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Töpf+A%22">Töpf A</searchLink>; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Straub+V%22">Straub V</searchLink>; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Fleming+MD%22">Fleming MD</searchLink>; Harvard Medical School, Boston, MA, USA.; Department of Pathology, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Pollak+MR%22">Pollak MR</searchLink>; Harvard Medical School, Boston, MA, USA.; Division of Nephrology, Beth Israel Deaconess Medical Center, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Õunap+K%22">Õunap K</searchLink>; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Pajusalu+S%22">Pajusalu S</searchLink>; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Donald+KA%22">Donald KA</searchLink>; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.; University of Cape Town, Cape Town, South Africa.<br /><searchLink fieldCode="AU" term="%22Bruwer+Z%22">Bruwer Z</searchLink>; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.; University of Cape Town, Cape Town, South Africa.<br /><searchLink fieldCode="AU" term="%22Ravenscroft+G%22">Ravenscroft G</searchLink>; University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Australia.<br /><searchLink fieldCode="AU" term="%22Laing+NG%22">Laing NG</searchLink>; University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Australia.<br /><searchLink fieldCode="AU" term="%22MacArthur+DG%22">MacArthur DG</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Rehm+HL%22">Rehm HL</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Talkowski+ME%22">Talkowski ME</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Brand+H%22">Brand H</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Senior authors.<br /><searchLink fieldCode="AU" term="%22O'Donnell-Luria+A%22">O'Donnell-Luria A</searchLink>; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Senior authors.
– Name: TitleSource
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  Data: <searchLink fieldCode="JN" term="%22101767986%22">MedRxiv : the preprint server for health sciences</searchLink> [medRxiv] 2023 Oct 05. <i>Date of Electronic Publication: </i>2023 Oct 05.
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  Data: Preprint; Journal Article
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  Data: <i>Country of Publication: </i>United States <i>NLM ID: </i>101767986 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>NLM ISO Abbreviation: </i>medRxiv <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37873196
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        Value: 10.1101/2023.10.05.23296595
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        Text: English
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      – TitleFull: Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
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            – D: 05
              M: 10
              Text: 2023 Oct 05
              Type: published
              Y: 2023
          Titles:
            – TitleFull: MedRxiv : the preprint server for health sciences
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