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Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
Bain, Jennifer M; Cho, Megan T; Telegrafi, Aida; Wilson, Ashley; Brooks, Susan; Botti, Christina; Gowans, Gordon; Autullo, Leigh Anne; Krishnamurthy, Vidya; Willing, Marcia C; Toler, Tomi L; Ben-Zev, Bruria; Elpeleg, Orly; Shen, Yufeng; Retterer, Kyle; Monaghan, Kristin G; Chung, Wendy K.
Afiliación
  • Bain JM; Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
  • Cho MT; GeneDx, Gaithersburg, MD 20877, USA.
  • Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.
  • Wilson A; Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA.
  • Brooks S; Department of Pediatrics, Rutgers Robert Wood Johnson Medical Group, New Brunswick, NJ 08901, USA.
  • Botti C; Department of Pediatrics, Rutgers Robert Wood Johnson Medical Group, New Brunswick, NJ 08901, USA.
  • Gowans G; Weisskopf Child Evaluation Center, University of Louisville, Louisville, KY 40202, USA.
  • Autullo LA; Weisskopf Child Evaluation Center, University of Louisville, Louisville, KY 40202, USA.
  • Krishnamurthy V; Pediatrics & Genetics, Alpharetta, GA 30005, USA.
  • Willing MC; Division of Genetics & Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Toler TL; Division of Genetics & Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Ben-Zev B; Pediatric Neurology, Edmond and Lily Safra Children's Hospital at Sheba, Derech Sheba 2, Tel Hashomer, Ramat Gan, Israel.
  • Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
  • Shen Y; Departments of Biomedical Informatics and Systems Biology, Columbia University Medical Center, New York, NY 10032, USA.
  • Retterer K; GeneDx, Gaithersburg, MD 20877, USA.
  • Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.
  • Chung WK; Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA. Electronic address: wkc15@columbia.edu.
Am J Hum Genet ; 99(3): 728-734, 2016 09 01.
Article en En | MEDLINE | ID: mdl-27545675
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Caracteres Sexuales / Señales de Localización Nuclear / Cromosomas Humanos X / Ribonucleoproteína Heterogénea-Nuclear Grupo F-H / Trastornos del Neurodesarrollo / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Caracteres Sexuales / Señales de Localización Nuclear / Cromosomas Humanos X / Ribonucleoproteína Heterogénea-Nuclear Grupo F-H / Trastornos del Neurodesarrollo / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos