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De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Qi, Hongjian; Yu, Lan; Zhou, Xueya; Wynn, Julia; Zhao, Haoquan; Guo, Yicheng; Zhu, Na; Kitaygorodsky, Alexander; Hernan, Rebecca; Aspelund, Gudrun; Lim, Foong-Yen; Crombleholme, Timothy; Cusick, Robert; Azarow, Kenneth; Danko, Melissa E; Chung, Dai; Warner, Brad W; Mychaliska, George B; Potoka, Douglas; Wagner, Amy J; ElFiky, Mahmoud; Wilson, Jay M; Nickerson, Debbie; Bamshad, Michael; High, Frances A; Longoni, Mauro; Donahoe, Patricia K; Chung, Wendy K; Shen, Yufeng.
Afiliación
  • Qi H; Department of Systems Biology, Columbia University Medical Center, New York, New York, United States of America.
  • Yu L; Department of Applied Mathematics and Applied Physics, Columbia University, New York, New York, United States of America.
  • Zhou X; Department of Pediatrics Medical Center, Columbia University, New York, New York, United States of America.
  • Wynn J; Department of Systems Biology, Columbia University Medical Center, New York, New York, United States of America.
  • Zhao H; Department of Pediatrics Medical Center, Columbia University, New York, New York, United States of America.
  • Guo Y; Department of Pediatrics Medical Center, Columbia University, New York, New York, United States of America.
  • Zhu N; Department of Systems Biology, Columbia University Medical Center, New York, New York, United States of America.
  • Kitaygorodsky A; Department of Biomedical Informatics, Columbia University Medical Center, New York, New York, United States of America.
  • Hernan R; Department of Systems Biology, Columbia University Medical Center, New York, New York, United States of America.
  • Aspelund G; Department of Systems Biology, Columbia University Medical Center, New York, New York, United States of America.
  • Lim FY; Department of Pediatrics Medical Center, Columbia University, New York, New York, United States of America.
  • Crombleholme T; Department of Systems Biology, Columbia University Medical Center, New York, New York, United States of America.
  • Cusick R; Department of Biomedical Informatics, Columbia University Medical Center, New York, New York, United States of America.
  • Azarow K; Department of Pediatrics Medical Center, Columbia University, New York, New York, United States of America.
  • Danko ME; Department of Surgery, Columbia University Medical Center, New York, New York, United States of America.
  • Chung D; Cincinnati Children's Hospital, Cincinnati, Ohio, United States of America.
  • Warner BW; Cincinnati Children's Hospital, Cincinnati, Ohio, United States of America.
  • Mychaliska GB; Children's Hospital & Medical Center of Omaha, University of Nebraska College of Medicine, Omaha, Nebraska, United States of America.
  • Potoka D; Department of Surgery, Oregon Health & Science University, Portland, Oregon, United States of America.
  • Wagner AJ; Monroe Carell Jr. Children's Hospital, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.
  • ElFiky M; Monroe Carell Jr. Children's Hospital, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.
  • Wilson JM; Washington University, St. Louis Children's Hospital, St. Louis, Missouri, United States of America.
  • Nickerson D; University of Michigan, CS Mott Children's Hospital, Ann Arbor, Michigan, United States of America.
  • Bamshad M; Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
  • High FA; Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.
  • Longoni M; Department of Pediatric Surgery, Faculty of Medicine, Cairo University, Cairo, Egypt.
  • Donahoe PK; Department of Surgery, Boston Children's Hospital, Boston, Massachusetts, United States of America.
  • Chung WK; Department of Surgery, Harvard Medical School, Boston, Massachusetts, United States of America.
  • Shen Y; University of Washington, Seattle, Washington, United States of America.
PLoS Genet ; 14(12): e1007822, 2018 12.
Article en En | MEDLINE | ID: mdl-30532227

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Factores de Transcripción / Variación Genética / Hernias Diafragmáticas Congénitas / Proteínas de la Membrana / Mutación Tipo de estudio: Clinical_trials / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Factores de Transcripción / Variación Genética / Hernias Diafragmáticas Congénitas / Proteínas de la Membrana / Mutación Tipo de estudio: Clinical_trials / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos