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Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
Calame, Daniel G; Bakhtiari, Somayeh; Logan, Rachel; Coban-Akdemir, Zeynep; Du, Haowei; Mitani, Tadahiro; Fatih, Jawid M; Hunter, Jill V; Herman, Isabella; Pehlivan, Davut; Jhangiani, Shalini N; Person, Richard; Schnur, Rhonda E; Jin, Sheng Chih; Bilguvar, Kaya; Posey, Jennifer E; Koh, Sookyong; Firouzabadi, Saghar G; Alehabib, Elham; Tafakhori, Abbas; Esmkhani, Sahra; Gibbs, Richard A; Noureldeen, Mahmoud M; Zaki, Maha S; Marafi, Dana; Darvish, Hossein; Kruer, Michael C; Lupski, James R.
Affiliation
  • Calame DG; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Bakhtiari S; Texas Children's Hospital, Houston, TX, USA.
  • Logan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Coban-Akdemir Z; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
  • Du H; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA.
  • Mitani T; Division of Neurosciences, Children's Healthcare of Atlanta, Atlanta, GA, USA.
  • Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Hunter JV; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
  • Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Person R; Department of Radiology, Baylor College of Medicine, Houston, TX, USA.
  • Schnur RE; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX, USA.
  • Jin SC; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Bilguvar K; Texas Children's Hospital, Houston, TX, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Koh S; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Firouzabadi SG; Texas Children's Hospital, Houston, TX, USA.
  • Alehabib E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Tafakhori A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Esmkhani S; GeneDX, Gaithersburg, MD, USA.
  • Gibbs RA; GeneDX, Gaithersburg, MD, USA.
  • Noureldeen MM; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
  • Zaki MS; Department of Genetics, Yale University, New Haven, CT, USA.
  • Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Darvish H; Department of Pediatrics, Children's Hospital, University of Nebraska, Omaha, NE, USA.
  • Kruer MC; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Lupski JR; Student Research Committee, Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Genet Med ; 23(12): 2455-2460, 2021 12.
Article in En | MEDLINE | ID: mdl-34385670
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / Cerebral Palsy / Epilepsy / Neurodevelopmental Disorders / Microcephaly Type of study: Prognostic_studies Limits: Humans Language: En Journal: Genet Med Year: 2021 Document type: Article
Fulltext
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / Cerebral Palsy / Epilepsy / Neurodevelopmental Disorders / Microcephaly Type of study: Prognostic_studies Limits: Humans Language: En Journal: Genet Med Year: 2021 Document type: Article