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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra, Maya; McEntagart, Meriel; Clayton-Smith, Jill; Platzer, Konrad; Shukla, Anju; Girisha, Katta M; Kaur, Anupriya; Kaur, Parneet; Pfundt, Rolph; Veenstra-Knol, Hermine; Mancini, Grazia M S; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Kortüm, Fanny; Hempel, Maja; Denecke, Jonas; Lehman, Anna; Kleefstra, Tjitske; Stuurman, Kyra E; Wilke, Martina; Thompson, Michelle L; Bebin, E Martina; Bijlsma, Emilia K; Hoffer, Mariette J V; Peeters-Scholte, Cacha; Slavotinek, Anne; Weiss, William A; Yip, Tiffany; Hodoglugil, Ugur; Whittle, Amy; diMonda, Janette; Neira, Juanita; Yang, Sandra; Kirby, Amelia; Pinz, Hailey; Lechner, Rosan; Sleutels, Frank; Helbig, Ingo; McKeown, Sarah; Helbig, Katherine; Willaert, Rebecca; Juusola, Jane; Semotok, Jennifer; Hadonou, Medard; Short, John; Yachelevich, Naomi; Lala, Sajel; Fernández-Jaen, Alberto; Pelayo, Janvier Porta; Klöckner, Chiara.
Afiliación
  • Chopra M; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), and Institut Imagine, Paris 75015, France; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imag
  • McEntagart M; Department of Medical Genetics, St George's University Hospitals NHS FT, London SW17 ORE, UK.
  • Clayton-Smith J; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9WL, UK.
  • Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04129, Germany.
  • Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India.
  • Kaur A; Genetics Metabolic Unit, Department of Pediatrics, PGIMER, Chandigarh 160012, India.
  • Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India.
  • Pfundt R; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands.
  • Veenstra-Knol H; Department of Genetics University of Groningen, University Medical Centre Groningen, Groningen CB50, the Netherlands.
  • Mancini GMS; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
  • Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University of Naples, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy.
  • Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University of Naples, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy.
  • Kortüm F; Institute of Human Genetics and Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.
  • Hempel M; Institute of Human Genetics and Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.
  • Denecke J; Institute of Human Genetics and Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.
  • Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
  • Kleefstra T; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands.
  • Stuurman KE; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
  • Wilke M; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
  • Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
  • Bebin EM; University of Alabama at Birmingham, Department of Neurology and Pediatrics, Birmingham, AL 35294, USA.
  • Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands.
  • Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands.
  • Peeters-Scholte C; Department of Neurology, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands.
  • Slavotinek A; Division of Genetics, Department of Pediatrics, UCSF, San Francisco, CA 94158, USA.
  • Weiss WA; Department of Neurology, University of California, San Francisco, San Francisco, CA 94110, USA.
  • Yip T; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA.
  • Hodoglugil U; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA.
  • Whittle A; Department of Pediatrics, Zuckerberg San Francisco General, San Francisco, UCSF, San Francisco, CA 94143, USA.
  • diMonda J; Department of Human Genetic, Emory University, Atlanta, GA 30322, USA.
  • Neira J; Department of Human Genetic, Emory University, Atlanta, GA 30322, USA.
  • Yang S; Clinical Genomics Program, GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Kirby A; Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA.
  • Pinz H; Division of Medical Genetics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA.
  • Lechner R; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
  • Sleutels F; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
  • Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19014, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Phila
  • McKeown S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19014, USA.
  • Helbig K; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19014, USA.
  • Willaert R; Clinical Genomics Program, GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Juusola J; Clinical Genomics Program, GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Semotok J; Clinical Genomics Program, GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Hadonou M; St. George's Genomics Service, St George's University Hospitals NHS FT, London SW17 ORE, UK.
  • Short J; St. George's Genomics Service, St George's University Hospitals NHS FT, London SW17 ORE, UK.
  • Yachelevich N; NYU Clinical Genetics Services, 145 E 32(nd) St PH, New York, NY 10016, USA.
  • Lala S; Division of Clinical Genetics, Nickelaus Children's Health System, 3100 SW 62(nd) Avenue, Coral Gables, FL 33155, USA.
  • Fernández-Jaen A; Department of Pediatric Neurology. Hospital Universitario Quirónsalud, Madrid and Universidad Complutense, Madrid 28224, Spain.
  • Pelayo JP; Genologica Center, Málaga 29016, Spain.
  • Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04129, Germany.
Am J Hum Genet ; 108(6): 1138-1150, 2021 06 03.
Article en En | MEDLINE | ID: mdl-33909992
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Unión al ARN / Anomalías Craneofaciales / Mutación con Pérdida de Función / Heterocigoto / Trastornos del Desarrollo del Lenguaje / Discapacidad Intelectual Tipo de estudio: Clinical_trials / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Unión al ARN / Anomalías Craneofaciales / Mutación con Pérdida de Función / Heterocigoto / Trastornos del Desarrollo del Lenguaje / Discapacidad Intelectual Tipo de estudio: Clinical_trials / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article Pais de publicación: Estados Unidos