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Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
Qiao, Lu; Xu, Le; Yu, Lan; Wynn, Julia; Hernan, Rebecca; Zhou, Xueya; Farkouh-Karoleski, Christiana; Krishnan, Usha S; Khlevner, Julie; De, Aliva; Zygmunt, Annette; Crombleholme, Timothy; Lim, Foong-Yen; Needelman, Howard; Cusick, Robert A; Mychaliska, George B; Warner, Brad W; Wagner, Amy J; Danko, Melissa E; Chung, Dai; Potoka, Douglas; Kosinski, Przemyslaw; McCulley, David J; Elfiky, Mahmoud; Azarow, Kenneth; Fialkowski, Elizabeth; Schindel, David; Soffer, Samuel Z; Lyon, Jane B; Zalieckas, Jill M; Vardarajan, Badri N; Aspelund, Gudrun; Duron, Vincent P; High, Frances A; Sun, Xin; Donahoe, Patricia K; Shen, Yufeng; Chung, Wendy K.
Afiliação
  • Qiao L; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Systems Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.
  • Xu L; Department of Pediatrics, University of California, San Diego Medical School, San Diego, CA 92093, USA.
  • Yu L; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
  • Wynn J; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
  • Hernan R; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
  • Zhou X; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Systems Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.
  • Farkouh-Karoleski C; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
  • Krishnan US; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
  • Khlevner J; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
  • De A; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
  • Zygmunt A; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
  • Crombleholme T; Medical City Children's Hospital, Dallas, TX 75230, USA.
  • Lim FY; Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Needelman H; University of Nebraska Medical Center College of Medicine, Omaha, NE 68114, USA.
  • Cusick RA; University of Nebraska Medical Center College of Medicine, Omaha, NE 68114, USA.
  • Mychaliska GB; University of Michigan Health System, Ann Arbor, MI 48109, USA.
  • Warner BW; Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Wagner AJ; Children's Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
  • Danko ME; Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN 37232, USA.
  • Chung D; Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN 37232, USA.
  • Potoka D; University of Pittsburgh, Pittsburgh, PA 15224, USA.
  • Kosinski P; Medical University of Warsaw, 02-091 Warsaw, Poland.
  • McCulley DJ; Department of Pediatrics, University of Wisconsin-Madison, Madison, WI 52726, USA.
  • Elfiky M; Cairo University, Cairo 11432, Egypt.
  • Azarow K; Oregon Health & Science University, Portland, OR 97239, USA.
  • Fialkowski E; Oregon Health & Science University, Portland, OR 97239, USA.
  • Schindel D; UT Southwestern Medical Center, Dallas, TX 75390, USA.
  • Soffer SZ; Northwell Health, New York, NY 11040, USA.
  • Lyon JB; Department of Radiology, University of Wisconsin-Madison, Madison, WI 53792, USA.
  • Zalieckas JM; Department of Surgery, Boston Children's Hospital, Boston, MA 02115, USA.
  • Vardarajan BN; Department of Neurology, Taub Institute for Research on Alzheimer Disease and the Aging Brain and the Gertrude H. Sergievsky Center, Columbia University, New York, NY 10032, USA.
  • Aspelund G; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
  • Duron VP; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
  • High FA; Department of Surgery, Boston Children's Hospital, Boston, MA 02115, USA; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Sun X; Department of Pediatrics, University of California, San Diego Medical School, San Diego, CA 92093, USA.
  • Donahoe PK; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Surgery, Harvard Medical School, Boston, MA 02115, USA.
  • Shen Y; Department of Systems Biology, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY 10032, USA; JP Sulzberger Columbia Genome Center, Columbia University Irving Medical Center, New York, NY 1
  • Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address: wkc15@cumc.columbia.edu.
Am J Hum Genet ; 108(10): 1964-1980, 2021 10 07.
Article em En | MEDLINE | ID: mdl-34547244
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Anormalidades Dentárias / Anormalidades do Olho / Anormalidades Craniofaciais / Mutação de Sentido Incorreto / Proteínas Mitocondriais / Proteases Dependentes de ATP / Variações do Número de Cópias de DNA / Hérnias Diafragmáticas Congênitas / Transtornos do Crescimento Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Anormalidades Dentárias / Anormalidades do Olho / Anormalidades Craniofaciais / Mutação de Sentido Incorreto / Proteínas Mitocondriais / Proteases Dependentes de ATP / Variações do Número de Cópias de DNA / Hérnias Diafragmáticas Congênitas / Transtornos do Crescimento Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article