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Haploinsufficiency of SF3B2 causes craniofacial microsomia.

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Title: Haploinsufficiency of SF3B2 causes craniofacial microsomia.
Authors: Timberlake AT; Hansjorg Wyss Department of Plastic and Reconstructive Surgery, NYU Langone Medical Center, New York, NY, USA. andrew.timberlake@nyumc.org., Griffin C; Department of Molecular Pathobiology, New York University College of Dentistry, New York, NY, USA., Heike CL; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Hing AV; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Cunningham ML; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada., Davis MR; Department of Diagnostic Genomics, Path West Laboratory Medicine, QEII Medical Centre, Hospital Avenue, Nedlands, WA, Australia., Doust SJ; Genetics Program, Peterborough Regional Health Centre, Peterborough, ON, Canada., Drake AF; Department of Otolaryngology/Head and Neck Surgery, University of North Carolina, Chapel Hill, NC, USA., Duenas-Roque MM; Hospital Edgardo Rebagliati Martins, EsSalud, Lima, Peru., Goldblatt J; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia., Gustafson JA; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA., Hurtado-Villa P; Pontificia Universidad Javeriana and Centro Médico Imbanaco, Cali, Colombia., Johns A; Division of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, CA, USA., Karp N; Department of Pediatrics, London Health Sciences Centre, Division of Medical Genetics, Western University, London, ON, Canada., Laing NG; Neurogenetic Diseases Group, Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Magee L; Division of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Mullegama SV; GeneDx, Gaithersburg, MD, USA., Pachajoa H; Universidad Icesi and Fundacion Clinica Valle del Lili, Cali, Colombia., Porras-Hurtado GL; Clinica Comfamiliar Risaralda, Pereira, Colombia., Schnur RE; GeneDx, Gaithersburg, MD, USA.; Dept of Pediatrics, Cooper Medical School of Rowan University; Division of Genetics, Cooper University Health Care, Camden, NJ, USA., Slee J; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia., Singer SL; Perth Children's Hospital, Nedlands, WA, Australia., Staffenberg DA; Hansjorg Wyss Department of Plastic and Reconstructive Surgery, NYU Langone Medical Center, New York, NY, USA., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Wise CA; Department of Diagnostic Genomics, Path West Laboratory Medicine, QEII Medical Centre, Hospital Avenue, Nedlands, WA, Australia., Zarante I; Human Genomics Institute, Pontificia Universidad Javeriana, Bogotá, Colombia.; Hospital Universitario San Ignacio, Bogotá, Colombia., Saint-Jeannet JP; Department of Molecular Pathobiology, New York University College of Dentistry, New York, NY, USA., Luquetti DV; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA. luquetti@uw.edu.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA. luquetti@uw.edu.
Corporate Authors: University of Washington Center for Mendelian Genomics
Source: Nature communications [Nat Commun] 2021 Aug 03; Vol. 12 (1), pp. 4680. Date of Electronic Publication: 2021 Aug 03.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
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  Data: Haploinsufficiency of SF3B2 causes craniofacial microsomia.
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  Data: <searchLink fieldCode="AU" term="%22Timberlake+AT%22">Timberlake AT</searchLink>; Hansjorg Wyss Department of Plastic and Reconstructive Surgery, NYU Langone Medical Center, New York, NY, USA. andrew.timberlake@nyumc.org.<br /><searchLink fieldCode="AU" term="%22Griffin+C%22">Griffin C</searchLink>; Department of Molecular Pathobiology, New York University College of Dentistry, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Heike+CL%22">Heike CL</searchLink>; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Hing+AV%22">Hing AV</searchLink>; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Cunningham+ML%22">Cunningham ML</searchLink>; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.<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, University of Toronto, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Davis+MR%22">Davis MR</searchLink>; Department of Diagnostic Genomics, Path West Laboratory Medicine, QEII Medical Centre, Hospital Avenue, Nedlands, WA, Australia.<br /><searchLink fieldCode="AU" term="%22Doust+SJ%22">Doust SJ</searchLink>; Genetics Program, Peterborough Regional Health Centre, Peterborough, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Drake+AF%22">Drake AF</searchLink>; 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GeneDx, Gaithersburg, MD, USA.; Dept of Pediatrics, Cooper Medical School of Rowan University; Division of Genetics, Cooper University Health Care, Camden, NJ, USA.<br /><searchLink fieldCode="AU" term="%22Slee+J%22">Slee J</searchLink>; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.<br /><searchLink fieldCode="AU" term="%22Singer+SL%22">Singer SL</searchLink>; Perth Children's Hospital, Nedlands, WA, Australia.<br /><searchLink fieldCode="AU" term="%22Staffenberg+DA%22">Staffenberg DA</searchLink>; Hansjorg Wyss Department of Plastic and Reconstructive Surgery, NYU Langone Medical Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Timms+AE%22">Timms AE</searchLink>; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Wise+CA%22">Wise CA</searchLink>; Department of Diagnostic Genomics, Path West Laboratory Medicine, QEII Medical Centre, Hospital Avenue, Nedlands, WA, Australia.<br /><searchLink fieldCode="AU" term="%22Zarante+I%22">Zarante I</searchLink>; Human Genomics Institute, Pontificia Universidad Javeriana, Bogotá, Colombia.; Hospital Universitario San Ignacio, Bogotá, Colombia.<br /><searchLink fieldCode="AU" term="%22Saint-Jeannet+JP%22">Saint-Jeannet JP</searchLink>; Department of Molecular Pathobiology, New York University College of Dentistry, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Luquetti+DV%22">Luquetti DV</searchLink>; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA. luquetti@uw.edu.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA. luquetti@uw.edu.
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