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Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Chopra, Maya; Gable, Dustin L; Love-Nichols, Jamie; Tsao, Alexa; Rockowitz, Shira; Sliz, Piotr; Barkoudah, Elizabeth; Bastianelli, Lucia; Coulter, David; Davidson, Emily; DeGusmao, Claudio; Fogelman, David; Huth, Kathleen; Marshall, Paige; Nimec, Donna; Sanders, Jessica Solomon; Shore, Benjamin J; Snyder, Brian; Stone, Scellig S D; Ubeda, Ana; Watkins, Colyn; Berde, Charles; Bolton, Jeffrey; Brownstein, Catherine; Costigan, Michael; Ebrahimi-Fakhari, Darius; Lai, Abbe; O'Donnell-Luria, Anne; Paciorkowski, Alex R; Pinto, Anna; Pugh, John; Rodan, Lance; Roe, Eugene; Swanson, Lindsay; Zhang, Bo; Kruer, Michael C; Sahin, Mustafa; Poduri, Annapurna; Srivastava, Siddharth.
Affiliation
  • Chopra M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Gable DL; Department of Pediatrics, Division of General Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Love-Nichols J; Child Neurology Residency Training Program, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Tsao A; Department of Genetics, Seattle Children's Hospital, Seattle, Washington, USA.
  • Rockowitz S; Marsh & McLennan Agency, White Plains, New York, USA.
  • Sliz P; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Barkoudah E; Division of Molecular Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Bastianelli L; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Coulter D; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Davidson E; Department of Orthopedics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • DeGusmao C; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Fogelman D; Department of Pediatrics, Division of General Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Huth K; Division of Developmental Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Marshall P; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Nimec D; Department of Physical Medicine and Rehabilitation, Spaulding Rehabilitation Hospital, Boston, Massachusetts, USA.
  • Sanders JS; Department of Pediatrics, Division of General Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Shore BJ; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Snyder B; Department of Physical Medicine and Rehabilitation, Spaulding Rehabilitation Hospital, Boston, Massachusetts, USA.
  • Stone SSD; Department of Neurology, Denver Children's Hospital, Denver, Colorado, USA.
  • Ubeda A; Department of Orthopedics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Watkins C; Department of Orthopedics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Berde C; Department of Neurosurgery, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Bolton J; Department of Physical Medicine and Rehabilitation, Spaulding Rehabilitation Hospital, Boston, Massachusetts, USA.
  • Brownstein C; Department of Orthopedics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Costigan M; Department of Anesthesiology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Ebrahimi-Fakhari D; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Lai A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • O'Donnell-Luria A; Department of Neurobiology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Paciorkowski AR; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Pinto A; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Pugh J; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Rodan L; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Roe E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Swanson L; Departments of Neurology, Pediatrics, Biomedical Genetics, and Neuroscience, University of Rochester Medical Center, Rochester, New York, USA.
  • Zhang B; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Kruer MC; Department of Neurology, Bernard and Millie Duker Children's Hospital, Albany Medical Center, Albany, New York, USA.
  • Sahin M; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Poduri A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Ann Clin Transl Neurol ; 9(2): 193-205, 2022 02.
Article in En | MEDLINE | ID: mdl-35076175

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebral Palsy / Genetic Predisposition to Disease / Exome Sequencing Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Journal: Ann Clin Transl Neurol Year: 2022 Document type: Article Affiliation country:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebral Palsy / Genetic Predisposition to Disease / Exome Sequencing Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Journal: Ann Clin Transl Neurol Year: 2022 Document type: Article Affiliation country: