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Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.

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Title: Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.
Authors: Merico D; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada.; Deep Genomics Inc., Toronto, M5G 1M1, ON, Canada., Pasternak Y; Canadian Center for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Toronto, M5G1X8, ON, Canada.; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada., Zarrei M; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada., Higginbotham EJ; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada., Thiruvahindrapuram B; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada., Scott O; Canadian Center for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Toronto, M5G1X8, ON, Canada.; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada., Willett-Pachul J; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada., Grunebaum E; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada., Upton J; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada., Atkinson A; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada., Kim VHD; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada., Aliyev E; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Fakhro K; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; Department of Genetic Medicine, Weill-Cornell Medical College, Doha, Qatar., Scherer SW; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, M5S 1A8, ON, Canada.; McLaughlin Centre, University of Toronto, Toronto, M5G 0A4, ON, Canada., Roifman CM; Canadian Center for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Toronto, M5G1X8, ON, Canada. chaim.roifman@sickkids.ca.; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada. chaim.roifman@sickkids.ca.; University of Toronto, Toronto, M5S 1A8, ON, Canada. chaim.roifman@sickkids.ca.
Source: NPJ genomic medicine [NPJ Genom Med] 2021 Nov 18; Vol. 6 (1), pp. 96. Date of Electronic Publication: 2021 Nov 18.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
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  Data: Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.
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  Data: <searchLink fieldCode="AU" term="%22Merico+D%22">Merico D</searchLink>; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada.; Deep Genomics Inc., Toronto, M5G 1M1, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Pasternak+Y%22">Pasternak Y</searchLink>; Canadian Center for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Toronto, M5G1X8, ON, Canada.; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Zarrei+M%22">Zarrei M</searchLink>; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Higginbotham+EJ%22">Higginbotham EJ</searchLink>; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Thiruvahindrapuram+B%22">Thiruvahindrapuram B</searchLink>; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Scott+O%22">Scott O</searchLink>; Canadian Center for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Toronto, M5G1X8, ON, Canada.; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Willett-Pachul+J%22">Willett-Pachul J</searchLink>; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Grunebaum+E%22">Grunebaum E</searchLink>; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Upton+J%22">Upton J</searchLink>; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Atkinson+A%22">Atkinson A</searchLink>; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Kim+VHD%22">Kim VHD</searchLink>; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.; University of Toronto, Toronto, M5S 1A8, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Aliyev+E%22">Aliyev E</searchLink>; Department of Human Genetics, Sidra Medicine, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Fakhro+K%22">Fakhro K</searchLink>; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; Department of Genetic Medicine, Weill-Cornell Medical College, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, M5S 1A8, ON, Canada.; McLaughlin Centre, University of Toronto, Toronto, M5G 0A4, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Roifman+CM%22">Roifman CM</searchLink>; Canadian Center for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Toronto, M5G1X8, ON, Canada. chaim.roifman@sickkids.ca.; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada. chaim.roifman@sickkids.ca.; University of Toronto, Toronto, M5S 1A8, ON, Canada. chaim.roifman@sickkids.ca.
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