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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Fountain, Michael D; Oleson, David S; Rech, Megan E; Segebrecht, Lara; Hunter, Jill V; McCarthy, John M; Lupo, Philip J; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A; Isidor, Bertrand; Le Caignec, Cédric; Saenz, Margarita S; Pedersen, Robert C; Morgan, Thomas M; Pfotenhauer, Jean P; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L; Patel, Ankita; Krantz, Ian D; Raible, Sarah E; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Millan, Francisca; Wentzensen, Ingrid M; Person, Richard E; Küry, Sébastien; Bézieau, Stéphane; Uguen, Kévin; Férec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L; Taft, Ryan J; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F; Horn, Denise; Spillmann, Rebecca C; Peña, Loren.
Afiliação
  • Fountain MD; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.
  • Oleson DS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Rech ME; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Segebrecht L; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.
  • Hunter JV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • McCarthy JM; Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Lupo PJ; Berlin Institute of Health (BIH), Berlin, Germany.
  • Holtgrewe M; Department of Radiology, Texas Children's Hospital, Houston, TX, USA.
  • Moran R; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Isidor B; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Le Caignec C; Core Unit Bioinformatics, Berlin Institute of Health, Berlin, Germany.
  • Saenz MS; Department of Genetics, Cleveland Clinic Children's, Cleveland, OH, USA.
  • Pedersen RC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Morgan TM; CHU Nantes, Service de Génétique Médicale, Nantes, France.
  • Pfotenhauer JP; l'institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
  • Xia F; CHU Nantes, Service de Génétique Médicale, Nantes, France.
  • Bi W; Clinical Genetics and Metabolism, Children's Hospital Colorado, Aurora, CO, USA.
  • Kang SL; Department of Pediatrics, Tripler Army Medical Center, Honolulu, HI, USA.
  • Patel A; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA.
  • Krantz ID; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA.
  • Raible SE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Smith W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Cristian I; Department of Pathology & Laboratory Medicine, University of California Los Angeles, Los Angeles, CA, USA.
  • Torti E; Baylor Genetics, Houston, TX, USA.
  • Juusola J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Millan F; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Wentzensen IM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Person RE; Department of Pediatrics, The Barbara Bush Children's Hospital, Maine Medical Center, Portland, ME, USA.
  • Küry S; Division of Genetics, Department of Pediatrics, Arnold Palmer Hospital, Orlando, FL, USA.
  • Bézieau S; GeneDx, Gaithersburg, MD, USA.
  • Uguen K; GeneDx, Gaithersburg, MD, USA.
  • Férec C; GeneDx, Gaithersburg, MD, USA.
  • Munnich A; GeneDx, Gaithersburg, MD, USA.
  • van Haelst M; GeneDx, Gaithersburg, MD, USA.
  • Lichtenbelt KD; CHU Nantes, Service de Génétique Médicale, Nantes, France.
  • van Gassen K; l'institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
  • Hagelstrom T; CHU Nantes, Service de Génétique Médicale, Nantes, France.
  • Chawla A; l'institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
  • Perry DL; Service de Génétique Médicale, CHRU de Brest, INSERM, Brest, France.
  • Taft RJ; Service de Génétique Médicale, CHRU de Brest, INSERM, Brest, France.
  • Jones M; UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Paris, France.
  • Masser-Frye D; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • Dyment D; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Venkateswaran S; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Li C; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Escobar LF; Illumina Clinical Services Laboratory, Illumina, San Diego, CA, USA.
  • Horn D; Illumina Clinical Services Laboratory, Illumina, San Diego, CA, USA.
  • Spillmann RC; Illumina Clinical Services Laboratory, Illumina, San Diego, CA, USA.
  • Peña L; Illumina Clinical Services Laboratory, Illumina, San Diego, CA, USA.
Genet Med ; 21(8): 1797-1807, 2019 08.
Article em En | MEDLINE | ID: mdl-30679821
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Comportamento Problema / Transtornos do Neurodesenvolvimento / Transtornos do Desenvolvimento da Linguagem / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Humans / Infant / Newborn Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Comportamento Problema / Transtornos do Neurodesenvolvimento / Transtornos do Desenvolvimento da Linguagem / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Humans / Infant / Newborn Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos