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Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

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Title: Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Authors: Stanley KJ; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada., Kalbfleisch KJ; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., Moran OM; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., Chaturvedi RR; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Cardiology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., Roifman M; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada., Chen X; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada., Manshaei R; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada., Martin N; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada., McDermott S; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada., McNiven V; Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON, Canada., Myles-Reid D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada., Nield LE; Division of Cardiology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., Reuter MS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Schwartz MLB; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., Shannon P; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada., Silver R; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada., Somerville C; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada., Teitelbaum R; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada., Zahavich L; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Cardiology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., Bassett AS; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; The Dalglish Family 22q Clinic, University Health Network, Toronto, ON, Canada.; Department of Psychiatry, University of Toronto, Toronto, ON, Canada.; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Kim RH; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Fred A. Litwin Family Centre in Genetic Medicine, Department of Medicine, University Health Network, Toronto, ON, Canada., Mital S; Division of Cardiology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Ted Rogers Centre for Heart Research, Toronto, ON, Canada., Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada., Jobling RK; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.; Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jul; Vol. 32 (7), pp. 795-803. Date of Electronic Publication: 2024 May 22.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
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  Data: <searchLink fieldCode="AU" term="%22Stanley+KJ%22">Stanley KJ</searchLink>; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Kalbfleisch+KJ%22">Kalbfleisch KJ</searchLink>; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Moran+OM%22">Moran OM</searchLink>; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Chaturvedi+RR%22">Chaturvedi RR</searchLink>; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; 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Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Shannon+P%22">Shannon P</searchLink>; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Silver+R%22">Silver R</searchLink>; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Somerville+C%22">Somerville C</searchLink>; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Teitelbaum+R%22">Teitelbaum R</searchLink>; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Zahavich+L%22">Zahavich L</searchLink>; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Cardiology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Bassett+AS%22">Bassett AS</searchLink>; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; The Dalglish Family 22q Clinic, University Health Network, Toronto, ON, Canada.; Department of Psychiatry, University of Toronto, Toronto, ON, Canada.; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Kim+RH%22">Kim RH</searchLink>; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; 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Litwin Family Centre in Genetic Medicine, Department of Medicine, University Health Network, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Mital+S%22">Mital S</searchLink>; Division of Cardiology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Ted Rogers Centre for Heart Research, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Chitayat+D%22">Chitayat D</searchLink>; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Jobling+RK%22">Jobling RK</searchLink>; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.; Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.
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