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Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine, Ingrid; Posey, Jennifer E; Grochowski, Christopher M; Jhangiani, Shalini N; Rosenheck, Sarah; Kleyner, Robert; Marmorale, Taylor; Yoon, Margaret; Wang, Kai; Robison, Reid; Cappuccio, Gerarda; Pinelli, Michele; Magli, Adriano; Coban Akdemir, Zeynep; Hui, Joannie; Yeung, Wai Lan; Wong, Bibiana K Y; Ortega, Lucia; Bekheirnia, Mir Reza; Bierhals, Tatjana; Hempel, Maja; Johannsen, Jessika; Santer, René; Aktas, Dilek; Alikasifoglu, Mehmet; Bozdogan, Sevcan; Aydin, Hatip; Karaca, Ender; Bayram, Yavuz; Ityel, Hadas; Dorschner, Michael; White, Janson J; Wilichowski, Ekkehard; Wortmann, Saskia B; Casella, Erasmo B; Kitajima, Joao Paulo; Kok, Fernando; Monteiro, Fabiola; Muzny, Donna M; Bamshad, Michael; Gibbs, Richard A; Sutton, V Reid; Van Esch, Hilde; Brunetti-Pierri, Nicola; Hildebrandt, Friedhelm; Brautbar, Ariel; Van den Veyver, Ignatia B; Glass, Ian; Lessel, Davor; Lyon, Gholson J.
Affiliation
  • Paine I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Rosenheck S; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY 11724, USA.
  • Kleyner R; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY 11724, USA.
  • Marmorale T; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY 11724, USA.
  • Yoon M; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY 11724, USA.
  • Wang K; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Robison R; Utah Foundation for Biomedical Research, Salt Lake City, UT 84107, USA.
  • Cappuccio G; Department of Translational Medicine, University of Naples "Federico II," 80131 Napoli, Italy; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy.
  • Pinelli M; Department of Translational Medicine, University of Naples "Federico II," 80131 Napoli, Italy; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy.
  • Magli A; Department of Pediatric Ophthalmology, University of Salerno, 84081 Baronissi SA, Italy.
  • Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Hui J; Department of Pediatrics, Prince of Wales Hospital, the Chinese University of Hong Kong, Hong Kong SAR, China.
  • Yeung WL; Department of Pediatrics and Adolescent Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong SAR, China.
  • Wong BKY; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA; The Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Ortega L; Medical Genetics Department, Cook Children's Hospital, Fort Worth, TX 76104, USA.
  • Bekheirnia MR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Section of Pediatric Renal, Baylor College of Medicine, Houston, TX 77030, USA; Department of Genetics, Texas Children's Hospital, Houston, TX 76104, USA.
  • Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Santer R; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Aktas D; DAMAGEN Genetic Diagnostic Center, 06690 Ankara, Turkey.
  • Alikasifoglu M; DAMAGEN Genetic Diagnostic Center, 06690 Ankara, Turkey.
  • Bozdogan S; Department of Medical Genetics, Cukurova University Faculty of Medicine, 01330 Adana, Turkey.
  • Aydin H; Department of Medical Genetics, Medical Faculty of Namik Kemal University, Tekirdag 59100, Turkey.
  • Karaca E; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
  • Bayram Y; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY 10029, USA.
  • Ityel H; Division of Nephrology, Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
  • Dorschner M; Center for Precision Diagnostics, University of Washington, Seattle, WA 98195, USA.
  • White JJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Wilichowski E; Department of Pediatrics and Pediatric Neurology, Georg-August-Universität Göttingen, 37075 Göttingen, Germany.
  • Wortmann SB; Institute of Human Genetics, Technical University München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum Munchen, 85764 Neuherberg, Germany; University Children's Hospital, Paracelsus Medical University, 5020 Salsburg, Austria.
  • Casella EB; Children's Institute, Hospital das Clinicas, University of Sao Paulo, 05405-000 Sao Paulo, Brazil.
  • Kitajima JP; Mendelics Genomic Analysis, 04013-000 Sao Paulo, Brazil.
  • Kok F; Mendelics Genomic Analysis, 04013-000 Sao Paulo, Brazil; Department of Neurology, University of Sao Paulo School of Medicine, 01246-903 Sao Paulo, Brazil.
  • Monteiro F; Mendelics Genomic Analysis, 04013-000 Sao Paulo, Brazil.
  • Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Bamshad M; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Van Esch H; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.
  • Brunetti-Pierri N; Department of Translational Medicine, University of Naples "Federico II," 80131 Napoli, Italy; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy.
  • Hildebrandt F; Division of Nephrology, Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
  • Brautbar A; Medical Genetics Department, Cook Children's Hospital, Fort Worth, TX 76104, USA.
  • Van den Veyver IB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA; The Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Glass I; Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.
  • Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Lyon GJ; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY 11724, USA; Utah Foundation for Biomedical Research, Salt Lake City, UT 84107, USA; Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.
Am J Hum Genet ; 105(2): 302-316, 2019 08 01.
Article in En | MEDLINE | ID: mdl-31256877
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA Helicases / Mutation, Missense / DEAD-box RNA Helicases / Neurodevelopmental Disorders / Neoplasm Proteins Limits: Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Hum Genet Year: 2019 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA Helicases / Mutation, Missense / DEAD-box RNA Helicases / Neurodevelopmental Disorders / Neoplasm Proteins Limits: Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Hum Genet Year: 2019 Document type: Article Affiliation country: Country of publication: