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Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Harel, Tamar; Yoon, Wan Hee; Garone, Caterina; Gu, Shen; Coban-Akdemir, Zeynep; Eldomery, Mohammad K; Posey, Jennifer E; Jhangiani, Shalini N; Rosenfeld, Jill A; Cho, Megan T; Fox, Stephanie; Withers, Marjorie; Brooks, Stephanie M; Chiang, Theodore; Duraine, Lita; Erdin, Serkan; Yuan, Bo; Shao, Yunru; Moussallem, Elie; Lamperti, Costanza; Donati, Maria A; Smith, Joshua D; McLaughlin, Heather M; Eng, Christine M; Walkiewicz, Magdalena; Xia, Fan; Pippucci, Tommaso; Magini, Pamela; Seri, Marco; Zeviani, Massimo; Hirano, Michio; Hunter, Jill V; Srour, Myriam; Zanigni, Stefano; Lewis, Richard Alan; Muzny, Donna M; Lotze, Timothy E; Boerwinkle, Eric; Gibbs, Richard A; Hickey, Scott E; Graham, Brett H; Yang, Yaping; Buhas, Daniela; Martin, Donna M; Potocki, Lorraine; Graziano, Claudio; Bellen, Hugo J; Lupski, James R.
Afiliación
  • Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: harel.tamar@gmail.com.
  • Yoon WH; Department of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Howard Hughes Medical Institute, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA.
  • Garone C; MRC Mitochondrial Biology Unit, Cambridge CB2 OXY, UK.
  • Gu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Eldomery MK; 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.
  • Jhangiani SN; 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.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Cho MT; GeneDx, Gaithersburg, MD 20877, USA.
  • Fox S; Medical Genetics Department, Montreal Children's Hospital, Montreal, QC H4A 3J1, Canada.
  • Withers M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Brooks SM; Department of Pediatrics, The Ohio State University College of Medicine, Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH 43205, USA.
  • Chiang T; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Duraine L; Department of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Howard Hughes Medical Institute, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA.
  • Erdin S; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Shao Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Moussallem E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lamperti C; Unit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology-IRCCS, Milan 20126, Italy.
  • Donati MA; Metabolic and Muscular Unit, Meyer Children's Hospital, University of Florence, Florence 50132, Italy.
  • Smith JD; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • McLaughlin HM; GeneDx, Gaithersburg, MD 20877, USA.
  • Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Walkiewicz M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Pippucci T; Medical Genetics Unit, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna 40138, Italy.
  • Magini P; Medical Genetics Unit, Department of Medical and Surgical Science, University of Bologna, Bologna 40138, Italy.
  • Seri M; Medical Genetics Unit, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna 40138, Italy; Medical Genetics Unit, Department of Medical and Surgical Science, University of Bologna, Bologna 40138, Italy.
  • Zeviani M; Unit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology-IRCCS, Milan 20126, Italy.
  • Hirano M; Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
  • Hunter JV; Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX 77030, USA.
  • Srour M; Department of Pediatrics, Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Canada.
  • Zanigni S; Functional MR Unit, Policlinico S. Orsola - Malpighi, Bologna 40138, Italy; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna 40123, Italy.
  • Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lotze TE; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatric Neurology, Texas Children's Hospital, Houston, TX 77030, USA.
  • Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, The University of Texas Health Science Center, Houston, TX 77030, 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.
  • Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH 43205, USA.
  • Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Buhas D; Medical Genetics Department, Montreal Children's Hospital, Montreal, QC H4A 3J1, Canada; Human Genetics Department, McGill University, Montreal, QC H3A 0G4, Canada.
  • Martin DM; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI, 48109; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
  • Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Graziano C; Medical Genetics Unit, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna 40138, Italy.
  • Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Howard Hughes Medical Institute, Jan and Dan Duncan Neur
  • Lupski JR; 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; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 770
Am J Hum Genet ; 99(4): 831-845, 2016 Oct 06.
Article en En | MEDLINE | ID: mdl-27640307
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Adenosina Trifosfatasas / Proteínas Mitocondriales / Alelos / Proteínas de la Membrana / Mitocondrias / Mutación / Enfermedades del Sistema Nervioso Límite: Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Adenosina Trifosfatasas / Proteínas Mitocondriales / Alelos / Proteínas de la Membrana / Mitocondrias / Mutación / Enfermedades del Sistema Nervioso Límite: Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article