换一批Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
第一作者：
Alexander M,Holtz
第一单位：
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA. Electronic address: alexander.holtz@childrens.havard.edu.
作者：
Alexander M,Holtz [1]
;
Rachel,VanCoillie [2]
;
Elizabeth A,Vansickle [2]
;
Deanna Alexis,Carere [3]
;
Kara,Withrow [3]
;
Erin,Torti [3]
;
Jane,Juusola [3]
;
Francisca,Millan [3]
;
Richard,Person [3]
;
Maria J,Guillen Sacoto [3]
;
Yue,Si [3]
;
Ingrid M,Wentzensen [3]
;
Jada,Pugh [4]
;
Georgia,Vasileiou [5]
;
Melissa,Rieger [5]
;
André,Reis [5]
;
Emanuela,Argilli [6]
;
Elliott H,Sherr [6]
;
Kimberly A,Aldinger [7]
;
William B,Dobyns [8]
;
Theresa,Brunet [9]
;
Julia,Hoefele [10]
;
Matias,Wagner [11]
;
Benjamin,Haber [12]
;
Urania,Kotzaeridou [12]
;
Boris,Keren [13]
;
Delphine,Heron [13]
;
Cyril,Mignot [13]
;
Solveig,Heide [13]
;
Thomas,Courtin [13]
;
Julien,Buratti [13]
;
Serini,Murugasen [14]
;
Kirsten A,Donald [14]
;
Emily,O'Heir [15]
;
Shade,Moody [16]
;
Katherine H,Kim [17]
;
Barbara K,Burton [17]
;
Grace,Yoon [18]
;
Miguel Del,Campo [19]
;
Diane,Masser-Frye [20]
;
Mariya,Kozenko [21]
;
Christina,Parkinson [21]
;
Susan L,Sell [22]
;
Patricia L,Gordon [22]
;
Jeremy W,Prokop [23]
;
Amel,Karaa [24]
;
Caleb,Bupp [25]
;
Benjamin A,Raby [26]
作者单位：
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA. Electronic address: alexander.holtz@childrens.havard.edu.
[1]
Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI.
[2]
GeneDx, Gaithersburg, MD.
[3]
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.
[4]
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
[5]
Brain Development Research Program, Department of Neurology, University of California San Francisco, San Francisco, CA.
[6]
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA.
[7]
Division of Pediatric Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
[8]
Institute of Human Genetics, Technical University Munich School of Medicine, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
[9]
Institute of Human Genetics, Technical University Munich School of Medicine, Munich, Germany.
[10]
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.
[11]
Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
[12]
Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France.
[13]
Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa.
[14]
Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
[15]
Division of Child and Adolescent Neurology, The University of Texas Health Science Center, Houston, TX.
[16]
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.
[17]
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
[18]
Division of Dysmorphology & Teratology, Department of Pediatrics, University of California San Diego, San Diego, CA.
[19]
Division of Genetics/ Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA.
[20]
Division of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.
[21]
Department of Pediatrics, Penn State Health Children's Hospital, Hershey, PA.
[22]
Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI.
[23]
Division of Genetics and Genomics, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
[24]
Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI. Electronic address: Caleb.Bupp@spectrumhealth.org.
[25]
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.
[26]
医学主题词
肌动蛋白类(Actins);纤毛(Cilia);猬蛋白质类(Hedgehog Proteins);人类(Humans);肌球蛋白重链(Myosin Heavy Chains);非肌肌球蛋白ⅡB型(Nonmuscle Myosin Type IIB)
DOI
10.1016/j.gim.2022.07.005
PMID
35980381
发布时间
2024-01-06
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Genetics in medicine
Genetics in medicine
2065-2078页
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