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De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
Okur, Volkan; Cho, Megan T; Henderson, Lindsay; Retterer, Kyle; Schneider, Michael; Sattler, Shannon; Niyazov, Dmitriy; Azage, Meron; Smith, Sharon; Picker, Jonathan; Lincoln, Sharyn; Tarnopolsky, Mark; Brady, Lauren; Bjornsson, Hans T; Applegate, Carolyn; Dameron, Amy; Willaert, Rebecca; Baskin, Berivan; Juusola, Jane; Chung, Wendy K.
Affiliation
  • Okur V; Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY, 10032, USA.
  • Cho MT; GeneDx, Gaithersburg, MD, USA.
  • Henderson L; GeneDx, Gaithersburg, MD, USA.
  • Retterer K; GeneDx, Gaithersburg, MD, USA.
  • Schneider M; Carle Physician Group, Urbana, IL, USA.
  • Sattler S; Carle Physician Group, Urbana, IL, USA.
  • Niyazov D; Ochsner Clinic, New Orleans, LA, USA.
  • Azage M; Ochsner Clinic, New Orleans, LA, USA.
  • Smith S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Picker J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Lincoln S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Tarnopolsky M; Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON, Canada.
  • Brady L; Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON, Canada.
  • Bjornsson HT; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
  • Applegate C; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
  • Dameron A; GeneDx, Gaithersburg, MD, USA.
  • Willaert R; GeneDx, Gaithersburg, MD, USA.
  • Baskin B; GeneDx, Gaithersburg, MD, USA.
  • Juusola J; GeneDx, Gaithersburg, MD, USA.
  • Chung WK; Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY, 10032, USA. wkc15@cumc.columbia.edu.
Hum Genet ; 135(7): 699-705, 2016 07.
Article in En | MEDLINE | ID: mdl-27048600
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Body Dysmorphic Disorders / Neurodevelopmental Disorders / Intellectual Disability Type of study: Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans Language: En Journal: Hum Genet Year: 2016 Document type: Article Affiliation country: United States Country of publication: Germany
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Body Dysmorphic Disorders / Neurodevelopmental Disorders / Intellectual Disability Type of study: Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans Language: En Journal: Hum Genet Year: 2016 Document type: Article Affiliation country: United States Country of publication: Germany