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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

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Title: Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Authors: Holtz AM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA. Electronic address: alexander.holtz@childrens.havard.edu., VanCoillie R; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI., Vansickle EA; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI., Carere DA; GeneDx, Gaithersburg, MD., Withrow K; GeneDx, Gaithersburg, MD., Torti E; GeneDx, Gaithersburg, MD., Juusola J; GeneDx, Gaithersburg, MD., Millan F; GeneDx, Gaithersburg, MD., Person R; GeneDx, Gaithersburg, MD., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD., Si Y; GeneDx, Gaithersburg, MD., Wentzensen IM; GeneDx, Gaithersburg, MD., Pugh J; Center for Precision Health Research, National Human Genome Research Institute, Bethesda, MD; Department of Health, Behavior and Society, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Rieger M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Argilli E; Brain Development Research Program, Department of Neurology, University of California San Francisco, San Francisco, CA., Sherr EH; Brain Development Research Program, Department of Neurology, University of California San Francisco, San Francisco, CA., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA., Dobyns WB; Division of Pediatric Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota., Brunet T; Institute of Human Genetics, Technical University Munich School of Medicine, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Hoefele J; Institute of Human Genetics, Technical University Munich School of Medicine, Munich, Germany., Wagner M; Institute of Human Genetics, Technical University Munich School of Medicine, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Division of Pediatric Neurology, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany., Haber B; Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Heron D; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Mignot C; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Heide S; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Courtin T; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Buratti J; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Murugasen S; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa., Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa., O'Heir E; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Moody S; Division of Child and Adolescent Neurology, The University of Texas Health Science Center, Houston, TX., Kim KH; Division of Genetics, Birth Defects, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL., Burton BK; Division of Genetics, Birth Defects, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL., Yoon G; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Campo MD; Division of Dysmorphology & Teratology, Department of Pediatrics, University of California San Diego, San Diego, CA., Masser-Frye D; Division of Genetics/ Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA., Kozenko M; Division of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada., Parkinson C; Division of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada., Sell SL; Department of Pediatrics, Penn State Health Children's Hospital, Hershey, PA., Gordon PL; Department of Pediatrics, Penn State Health Children's Hospital, Hershey, PA., Prokop JW; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI., Karaa A; Division of Genetics and Genomics, Massachusetts General Hospital, Harvard Medical School, Boston, MA., Bupp C; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI. Electronic address: Caleb.Bupp@spectrumhealth.org., Raby BA; Division of Pulmonary Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA. Electronic address: benjamin.raby@childrens.harvard.edu.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Oct; Vol. 24 (10), pp. 2065-2078. Date of Electronic Publication: 2022 Aug 18.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural
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:
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DbLabel: MEDLINE Ultimate
An: 35980381
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
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  Data: <searchLink fieldCode="AU" term="%22Holtz+AM%22">Holtz AM</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA. Electronic address: alexander.holtz@childrens.havard.edu.<br /><searchLink fieldCode="AU" term="%22VanCoillie+R%22">VanCoillie R</searchLink>; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI.<br /><searchLink fieldCode="AU" term="%22Vansickle+EA%22">Vansickle EA</searchLink>; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI.<br /><searchLink fieldCode="AU" term="%22Carere+DA%22">Carere DA</searchLink>; GeneDx, Gaithersburg, MD.<br /><searchLink fieldCode="AU" term="%22Withrow+K%22">Withrow K</searchLink>; GeneDx, Gaithersburg, MD.<br /><searchLink fieldCode="AU" term="%22Torti+E%22">Torti E</searchLink>; GeneDx, Gaithersburg, MD.<br /><searchLink fieldCode="AU" term="%22Juusola+J%22">Juusola J</searchLink>; GeneDx, Gaithersburg, MD.<br /><searchLink fieldCode="AU" term="%22Millan+F%22">Millan F</searchLink>; GeneDx, Gaithersburg, MD.<br /><searchLink fieldCode="AU" term="%22Person+R%22">Person R</searchLink>; 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Institute of Human Genetics, Technical University Munich School of Medicine, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.<br /><searchLink fieldCode="AU" term="%22Hoefele+J%22">Hoefele J</searchLink>; Institute of Human Genetics, Technical University Munich School of Medicine, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Wagner+M%22">Wagner M</searchLink>; Institute of Human Genetics, Technical University Munich School of Medicine, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Division of Pediatric Neurology, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Haber+B%22">Haber B</searchLink>; Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Kotzaeridou+U%22">Kotzaeridou U</searchLink>; 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Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Murugasen+S%22">Murugasen S</searchLink>; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa.<br /><searchLink fieldCode="AU" term="%22Donald+KA%22">Donald KA</searchLink>; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa.<br /><searchLink fieldCode="AU" term="%22O'Heir+E%22">O'Heir E</searchLink>; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.<br /><searchLink fieldCode="AU" term="%22Moody+S%22">Moody S</searchLink>; Division of Child and Adolescent Neurology, The University of Texas Health Science Center, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Kim+KH%22">Kim KH</searchLink>; Division of Genetics, Birth Defects, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL.<br /><searchLink fieldCode="AU" term="%22Burton+BK%22">Burton BK</searchLink>; Division of Genetics, Birth Defects, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL.<br /><searchLink fieldCode="AU" term="%22Yoon+G%22">Yoon G</searchLink>; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Campo+MD%22">Campo MD</searchLink>; Division of Dysmorphology & Teratology, Department of Pediatrics, University of California San Diego, San Diego, CA.<br /><searchLink fieldCode="AU" term="%22Masser-Frye+D%22">Masser-Frye D</searchLink>; Division of Genetics/ Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA.<br /><searchLink fieldCode="AU" term="%22Kozenko+M%22">Kozenko M</searchLink>; Division of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Parkinson+C%22">Parkinson C</searchLink>; Division of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Sell+SL%22">Sell SL</searchLink>; Department of Pediatrics, Penn State Health Children's Hospital, Hershey, PA.<br /><searchLink fieldCode="AU" term="%22Gordon+PL%22">Gordon PL</searchLink>; Department of Pediatrics, Penn State Health Children's Hospital, Hershey, PA.<br /><searchLink fieldCode="AU" term="%22Prokop+JW%22">Prokop JW</searchLink>; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI.<br /><searchLink fieldCode="AU" term="%22Karaa+A%22">Karaa A</searchLink>; Division of Genetics and Genomics, Massachusetts General Hospital, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Bupp+C%22">Bupp C</searchLink>; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI. 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