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Exome sequencing can improve diagnosis and alter patient management.
Dixon-Salazar, Tracy J; Silhavy, Jennifer L; Udpa, Nitin; Schroth, Jana; Bielas, Stephanie; Schaffer, Ashleigh E; Olvera, Jesus; Bafna, Vineet; Zaki, Maha S; Abdel-Salam, Ghada H; Mansour, Lobna A; Selim, Laila; Abdel-Hadi, Sawsan; Marzouki, Naima; Ben-Omran, Tawfeg; Al-Saana, Nouriya A; Sonmez, F Müjgan; Celep, Figen; Azam, Matloob; Hill, Kiley J; Collazo, Adrienne; Fenstermaker, Ali G; Novarino, Gaia; Akizu, Naiara; Garimella, Kiran V; Sougnez, Carrie; Russ, Carsten; Gabriel, Stacey B; Gleeson, Joseph G.
Afiliação
  • Dixon-Salazar TJ; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA.
  • Silhavy JL; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA.
  • Udpa N; Department of Computer Sciences, School of Engineering, University of California, San Diego, La Jolla, CA 92093, USA.
  • Schroth J; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA.
  • Bielas S; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA.
  • Schaffer AE; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA.
  • Olvera J; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA.
  • Bafna V; Department of Computer Sciences, School of Engineering, University of California, San Diego, La Jolla, CA 92093, USA.
  • Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
  • Abdel-Salam GH; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
  • Mansour LA; Cairo University Children's Hospital, Cairo 406, Egypt.
  • Selim L; Cairo University Children's Hospital, Cairo 406, Egypt.
  • Abdel-Hadi S; Cairo University Children's Hospital, Cairo 406, Egypt.
  • Marzouki N; Laboratoire Génétique Moléculaire, El Razi University Hospital, Marrakech 2360, Morocco.
  • Ben-Omran T; Clinical and Metabolic Genetics Division, Department of Pediatrics, Hamad Medical Corporation, Doha 3050, Qatar.
  • Al-Saana NA; Department of Pediatrics, Dhahran Health Center, Saudi Aramco Corporation, Dhahran 31311, KSA.
  • Sonmez FM; Child Neurology Department, Medical School of Karadeniz Technical University, Trabzon 61080, Turkey.
  • Celep F; Medical Biology Department, Medical School of Karadeniz Technical University, Trabzon 61080, Turkey.
  • Azam M; Department of Paediatrics and Child Neurology, Wah Medical College, Wah Cantt, Pakistan.
  • Hill KJ; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA.
  • Collazo A; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA.
  • Fenstermaker AG; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA.
  • Novarino G; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA.
  • Akizu N; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA.
  • Garimella KV; The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
  • Sougnez C; The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
  • Russ C; The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
  • Gabriel SB; The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
  • Gleeson JG; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA.
Sci Transl Med ; 4(138): 138ra78, 2012 Jun 13.
Article em En | MEDLINE | ID: mdl-22700954
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Exoma Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2012 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Exoma Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2012 Tipo de documento: Article