De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
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| Title: | De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. |
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| Authors: | Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. ghayda.mirzaa@seattlechildrens.org.; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA. ghayda.mirzaa@seattlechildrens.org.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA. ghayda.mirzaa@seattlechildrens.org., Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA., Piton A; Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, France.; Institute of Genetics and Molecular and Cellular Biology, Université de Strasbourg, Illkirch, France., Popp B; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany., Foss K; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Guo H; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Harripaul R; The Campbell Family Mental Health Research Institute, Centre for Addiction & Mental Health (CAMH), Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada., Xia K; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Scheck J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Sajan SA; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA., Tang S; WuXi NextCODE, Cambridge, MA, USA., Bonneau D; Département de Biochimie et de Génétique, CHU d'Angers, Angers, France.; UMR INSERM 1083 CNRS 6015, Angers, France., Beck A; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA., White J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Harris J; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Smith-Hicks C; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Hoyer J; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany., Zweier C; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany., Reis A; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany., Thiel CT; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany., Jamra RA; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany., Zeid N; Yale New Haven Health, New Haven, CT, USA., Yang A; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA., Farach LS; Department of Pediatrics, McGovern Medical School at the University of Texas Health Sciences Center, Houston, TX, USA., Walsh L; Indiana University Health at Riley Hospital for Children, Indianapolis, IN, USA., Payne K; Indiana University Health at Riley Hospital for Children, Indianapolis, IN, USA., Rohena L; Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA., Velinov M; New York State Institute for Basic Research in Developmental Disability, NY, Staten Island, USA., Ziegler A; Département de Biochimie et de Génétique, CHU d'Angers, Angers, France.; Service de Génétique Médicale, Centre hospitalier, Le Mans, France., Schaefer E; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d'Alsace, Strasbourg, France., Gatinois V; Service de génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Strasbourg, France.; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France.; Université Montpellier, Unité Inserm U1183, Montpellier, France., Geneviève D; Service de génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Strasbourg, France.; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France.; Université Montpellier, Unité Inserm U1183, Montpellier, France., Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Kohler J; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Rotenberg J; Memorial Hermann Memorial City Medical Center, Houston, TX, USA., Wheeler P; Arnold Palmer Hospital for Children, Orlando, FL, USA., Larson A; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA., Ernst ME; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Akman CI; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Division of Pediatric Neurology, Columbia University Irving Medical Center, New York, NY, USA., Westman R; Division of Genetics, St. Luke's Clinic, Boise, ID, USA., Blanchet P; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France., Schillaci LA; Department of Genetics and Genome Sciences, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, OH, USA., Vincent-Delorme C; Service de Génétique Clinique Guy Fontaine Centre de référence maladies rares Anomalies du dévelopement, Hôpital Jeanne de Flandre Lille, Lille, France., Gripp KW; Department of Pediatrics, AI duPont Hospital, DE, Wilmington, USA., Mattioli F; Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch-Graffenstaden, Lille, France., Guyader GL; Service de Génétique Clinique, Centre de compétence Maladies rares Anomalies du dévelopement, CHU de Poitiers, Poitiers, France., Gerard B; Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, France., Mathieu-Dramard M; Service de Génétique Clinique Centre de référence maladies rares Anomalies du dévelopement, CHU Amiens-Picardie, Amiens, France., Morin G; Children's Medical Center, UMass Memorial Medical Center, Worcester, MA, USA., Sasanfar R; Children's Medical Center, UMass Memorial Medical Center, Worcester, MA, USA., Ayub M; Department of Psychiatry, Queen's University, Kingston, ON, Canada., Vasli N; Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada., Yang S; GeneDx, Gaithersburg, MD, USA., Person R; GeneDx, Gaithersburg, MD, USA., Monaghan KG; GeneDx, Gaithersburg, MD, USA., Nickerson DA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Enns GM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA, USA., Dries AM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Rowe LJ; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA., Tsai ACH; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA., Svihovec S; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA., Friedman J; Departments of Neurosciences and Pediatrics, University of California San Diego and Division of Neurology, Rady Children's Hospital, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Agha Z; Department of Biosciences, COMSATS University, Islamabad, Pakistan., Qamar R; Department of Biosciences, COMSATS University, Islamabad, Pakistan., Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Martinez-Agosto J; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Vincent M; CHU de Nantes, Service de génétique médicale, Nantes, France., Sunderland WJ; University of Washington Foundation Board, University of Washington, Seattle, WA, USA., Bernstein JA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., Vincent JB; The Campbell Family Mental Health Research Institute, Centre for Addiction & Mental Health (CAMH), Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA. |
| Corporate Authors: | Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG) |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 538-546. Date of Electronic Publication: 2019 Nov 14. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't |
| 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 |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 31723249 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Mirzaa+GM%22">Mirzaa GM</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. ghayda.mirzaa@seattlechildrens.org.; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA. ghayda.mirzaa@seattlechildrens.org.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA. ghayda.mirzaa@seattlechildrens.org.<br /><searchLink fieldCode="AU" term="%22Chong+JX%22">Chong JX</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Piton+A%22">Piton A</searchLink>; Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, France.; Institute of Genetics and Molecular and Cellular Biology, Université de Strasbourg, Illkirch, France.<br /><searchLink fieldCode="AU" term="%22Popp+B%22">Popp B</searchLink>; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Foss+K%22">Foss K</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Guo+H%22">Guo H</searchLink>; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.<br /><searchLink fieldCode="AU" term="%22Harripaul+R%22">Harripaul R</searchLink>; The Campbell Family Mental Health Research Institute, Centre for Addiction & Mental Health (CAMH), Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Xia+K%22">Xia K</searchLink>; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.<br /><searchLink fieldCode="AU" term="%22Scheck+J%22">Scheck J</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Aldinger+KA%22">Aldinger KA</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Sajan+SA%22">Sajan SA</searchLink>; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Tang+S%22">Tang S</searchLink>; WuXi NextCODE, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Bonneau+D%22">Bonneau D</searchLink>; Département de Biochimie et de Génétique, CHU d'Angers, Angers, France.; UMR INSERM 1083 CNRS 6015, Angers, France.<br /><searchLink fieldCode="AU" term="%22Beck+A%22">Beck A</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22White+J%22">White J</searchLink>; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Mahida+S%22">Mahida S</searchLink>; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Harris+J%22">Harris J</searchLink>; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Smith-Hicks+C%22">Smith-Hicks C</searchLink>; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Hoyer+J%22">Hoyer J</searchLink>; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Zweier+C%22">Zweier C</searchLink>; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Reis+A%22">Reis A</searchLink>; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Thiel+CT%22">Thiel CT</searchLink>; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Jamra+RA%22">Jamra RA</searchLink>; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Zeid+N%22">Zeid N</searchLink>; Yale New Haven Health, New Haven, CT, USA.<br /><searchLink fieldCode="AU" term="%22Yang+A%22">Yang A</searchLink>; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.<br /><searchLink fieldCode="AU" term="%22Farach+LS%22">Farach LS</searchLink>; Department of Pediatrics, McGovern Medical School at the University of Texas Health Sciences Center, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Walsh+L%22">Walsh L</searchLink>; Indiana University Health at Riley Hospital for Children, Indianapolis, IN, USA.<br /><searchLink fieldCode="AU" term="%22Payne+K%22">Payne K</searchLink>; Indiana University Health at Riley Hospital for Children, Indianapolis, IN, USA.<br /><searchLink fieldCode="AU" term="%22Rohena+L%22">Rohena L</searchLink>; Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.<br /><searchLink fieldCode="AU" term="%22Velinov+M%22">Velinov M</searchLink>; New York State Institute for Basic Research in Developmental Disability, NY, Staten Island, USA.<br /><searchLink fieldCode="AU" term="%22Ziegler+A%22">Ziegler A</searchLink>; Département de Biochimie et de Génétique, CHU d'Angers, Angers, France.; Service de Génétique Médicale, Centre hospitalier, Le Mans, France.<br /><searchLink fieldCode="AU" term="%22Schaefer+E%22">Schaefer E</searchLink>; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d'Alsace, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Gatinois+V%22">Gatinois V</searchLink>; Service de génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Strasbourg, France.; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France.; Université Montpellier, Unité Inserm U1183, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Geneviève+D%22">Geneviève D</searchLink>; Service de génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Strasbourg, France.; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France.; Université Montpellier, Unité Inserm U1183, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Simon+MEH%22">Simon MEH</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kohler+J%22">Kohler J</searchLink>; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Rotenberg+J%22">Rotenberg J</searchLink>; Memorial Hermann Memorial City Medical Center, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Wheeler+P%22">Wheeler P</searchLink>; Arnold Palmer Hospital for Children, Orlando, FL, USA.<br /><searchLink fieldCode="AU" term="%22Larson+A%22">Larson A</searchLink>; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Ernst+ME%22">Ernst ME</searchLink>; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Akman+CI%22">Akman CI</searchLink>; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Division of Pediatric Neurology, Columbia University Irving Medical Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Westman+R%22">Westman R</searchLink>; Division of Genetics, St. Luke's Clinic, Boise, ID, USA.<br /><searchLink fieldCode="AU" term="%22Blanchet+P%22">Blanchet P</searchLink>; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Schillaci+LA%22">Schillaci LA</searchLink>; Department of Genetics and Genome Sciences, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.<br /><searchLink fieldCode="AU" term="%22Vincent-Delorme+C%22">Vincent-Delorme C</searchLink>; Service de Génétique Clinique Guy Fontaine Centre de référence maladies rares Anomalies du dévelopement, Hôpital Jeanne de Flandre Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Gripp+KW%22">Gripp KW</searchLink>; Department of Pediatrics, AI duPont Hospital, DE, Wilmington, USA.<br /><searchLink fieldCode="AU" term="%22Mattioli+F%22">Mattioli F</searchLink>; Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch-Graffenstaden, Lille, France.<br /><searchLink fieldCode="AU" term="%22Guyader+GL%22">Guyader GL</searchLink>; Service de Génétique Clinique, Centre de compétence Maladies rares Anomalies du dévelopement, CHU de Poitiers, Poitiers, France.<br /><searchLink fieldCode="AU" term="%22Gerard+B%22">Gerard B</searchLink>; Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Mathieu-Dramard+M%22">Mathieu-Dramard M</searchLink>; Service de Génétique Clinique Centre de référence maladies rares Anomalies du dévelopement, CHU Amiens-Picardie, Amiens, France.<br /><searchLink fieldCode="AU" term="%22Morin+G%22">Morin G</searchLink>; Children's Medical Center, UMass Memorial Medical Center, Worcester, MA, USA.<br /><searchLink fieldCode="AU" term="%22Sasanfar+R%22">Sasanfar R</searchLink>; Children's Medical Center, UMass Memorial Medical Center, Worcester, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ayub+M%22">Ayub M</searchLink>; Department of Psychiatry, Queen's University, Kingston, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Vasli+N%22">Vasli N</searchLink>; Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Yang+S%22">Yang S</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Person+R%22">Person R</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Monaghan+KG%22">Monaghan KG</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Nickerson+DA%22">Nickerson DA</searchLink>; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22van+Binsbergen+E%22">van Binsbergen E</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Enns+GM%22">Enns GM</searchLink>; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Dries+AM%22">Dries AM</searchLink>; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Rowe+LJ%22">Rowe LJ</searchLink>; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Tsai+ACH%22">Tsai ACH</searchLink>; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Svihovec+S%22">Svihovec S</searchLink>; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Friedman+J%22">Friedman J</searchLink>; Departments of Neurosciences and Pediatrics, University of California San Diego and Division of Neurology, Rady Children's Hospital, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Agha+Z%22">Agha Z</searchLink>; Department of Biosciences, COMSATS University, Islamabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Qamar+R%22">Qamar R</searchLink>; Department of Biosciences, COMSATS University, Islamabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Rodan+LH%22">Rodan LH</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Martinez-Agosto+J%22">Martinez-Agosto J</searchLink>; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Ockeloen+CW%22">Ockeloen CW</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Vincent+M%22">Vincent M</searchLink>; CHU de Nantes, Service de génétique médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Sunderland+WJ%22">Sunderland WJ</searchLink>; University of Washington Foundation Board, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Bernstein+JA%22">Bernstein JA</searchLink>; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Eichler+EE%22">Eichler EE</searchLink>; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Vincent+JB%22">Vincent JB</searchLink>; The Campbell Family Mental Health Research Institute, Centre for Addiction & Mental Health (CAMH), Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Bamshad+MJ%22">Bamshad MJ</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22Undiagnosed+Diseases+Network%22">Undiagnosed Diseases Network</searchLink><br /><searchLink fieldCode="CA" term="%22University+of+Washington+Center+for+Mendelian+Genomics+%28UW-CMG%29%22">University of Washington Center for Mendelian Genomics (UW-CMG)</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2020 Mar; Vol. 22 (3), pp. 538-546. <i>Date of Electronic Publication: </i>2019 Nov 14. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE |
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