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2
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder 미리보기

학술저널

issue
AMERICAN JOURNAL OF HUMAN GENETICS; JUN 1 2023, 110 6, p963-p978, 17p.
Author
Rots, Dmitrijs
Jakub, Taryn E.
Keung, Crystal
Lisenka, Vissers E. L. M.
Banka, Siddharth
Pfundt, Rolph
de Vries, Bert B. A.
van Jaarsveld, Richard H.
Hopman, Saskia M. J.
van Binsbergen, Ellen
Valenzuela, Irene
Hempel, Maja
Bierhals, Tatjana
Kortuem, Fanny
Lecoquierre, Francois
Goldenberg, Alice
Hertz, Jens Michael
Andersen, Charlotte Brasch
Kibaek, Maria
Prijoles, Eloise J.
Stevenson, Roger E.
Everman, David B.
Patterson, Wesley G.
Meng, Linyan
Gijavanekar, Charul
De Dios, Karl
Lakhani, Shenela
Levy, Tess
Wagner, Matias
Wieczorek, Dagmar
Benke, Paul J.
Garcia, Maria Soledad Lopez
Perrier, Renee
Sousa, Sergio B.
Almeida, Pedro M.
Simoes, Maria Jose
Isidor, Bertrand
Deb, Wallid
Schmanski, Andrew A.
Abdul-Rahman, Omar
Philippe, Christophe
Bruel, Ange-Line
Faivre, Laurence
Vitobello, Antonio
Thauvin, Christel
Smits, Jeroen J.
Garavelli, Livia
Caraffi, Stefano G.
Peluso, Francesca
Davis-Keppen, Laura
Platt, Dylan
Royer, Erin
Leeuwen, Lisette
Sinnema, Margje
Stegmann, Alexander P. A.
Stumpel, Constance T. R. M.
Tiller, George E.
Bosch, Danielle G. M.
Potgieter, Stephanus T.
Joss, Shelagh
Splitt, Miranda
Holden, Simon
Prapa, Matina
Foulds, Nicola
Douzgou, Sofia
Puura, Kaija
Waltes, Regina
Chiocchetti, Andreas G.
Freitag, Christine M.
Satterstrom, F. Kyle
De Rubeis, Silvia
Buxbaum, Joseph
Gelb, Bruce D.
Branko, Aleksic
Kushima, Itaru
Howe, Jennifer
Scherer, Stephen W.
Arado, Alessia
Baldo, Chiara
Patat, Olivier
Benedicte, Demeer
Lopergolo, Diego
Santorelli, Filippo M.
Haack, Tobias B.
Dufke, Andreas
Bertrand, Miriam
Falb, Ruth J.
Riess, Angelika
Krieg, Peter
Spranger, Stephanie
Bedeschi, Maria Francesca
Iascone, Maria
Josephi-Taylor, Sarah
Roscioli, Tony
Buckley, Michael F.
Liebelt, Jan
Dagli, Aditi I.
Aten, Emmelien
Hurst, Anna C. E.
Hicks, Alesha
Suri, Mohnish
Aliu, Ermal
Naik, Sunil
Sidlow, Richard
Coursimault, Juliette
Nicolas, Gael
Kuepper, Hanna
Petit, Florence
Ibrahim, Veyan
Top, Deniz
Di Cara, Francesca
Louie, Raymond J.
Stolerman, Elliot
Brunner, Han G.
Vissers, Lisenka E. L. M.
Kramer, Jamie M.
Kleefstra, Tjitske
Genomics England Res Consortium
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (ScienceDirect O/A)  등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR) 
8
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. 미리보기

학술저널

issue
American journal of human genetics [Am J Hum Genet] 2023 Jun 01; Vol. 110 (6), pp. 963-978. Date of Electronic Publication: 2023 May 16.
Author
Rots D; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.
Jakub TE; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada.
Keung C; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada.
Jackson A; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
Pfundt R; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.
de Vries BBA; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.
van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Valenzuela I; Hospital Universitari Vall D'Hebron, Clinical and Molecular Genetics Unit, Barcelona, Catalonia, Spain.
Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Lecoquierre F; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.
Goldenberg A; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.
Hertz JM; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark; University of Southern Denmark, Department of Clinical Research, Odense, Denmark.
Andersen CB; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark.
Kibæk M; Department of Pediatrics, Odense University Hospital, Odense, Denmark.
Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, USA.
Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA.
Everman DB; Greenwood Genetic Center, Greenwood, SC, USA.
Patterson WG; Greenwood Genetic Center, Greenwood, SC, USA.
Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.
Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.
De Dios K; Division of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.
Lakhani S; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA.
Levy T; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA.
Wagner M; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Division of Pediatric Neurology, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany.
Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.
Benke PJ; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.
Lopez Garcia MS; Hospital Universitario Donostia, San Sebastián, Spain.
Perrier R; Department of Medical Genetics, Alberta Children's Hospital and Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Almeida PM; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Simões MJ; CBR Genomics, Cantanhede, Portugal; Genoinseq, Next-Generation Sequencing Unit, Biocant, Cantanhede, Portugal.
Isidor B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.
Deb W; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.
Schmanski AA; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA.
Abdul-Rahman O; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA.
Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.
Bruel AL; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.
Faivre L; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU Dijon Bourgogne, Dijon, France.
Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.
Thauvin C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Smits JJ; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.
Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Peluso F; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Davis-Keppen L; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA.
Platt D; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA.
Royer E; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA.
Leeuwen L; University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.
Sinnema M; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands.
Stegmann APA; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands.
Stumpel CTRM; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands; Department of Clinical Genetics and GROW-School for Oncology and Reproduction, Maastricht, the Netherlands.
Tiller GE; Kaiser Permanente, Department of Genetics, Los Angeles, CA, USA.
Bosch DGM; Erasmus Medical Centre, Genetics Department, Rotterdam, the Netherlands.
Potgieter ST; Laurentius Hospital, Roermond, the Netherlands.
Joss S; West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK.
Splitt M; Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne NE1 3BZ, UK.
Holden S; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK.
Prapa M; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK.
Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK.
Douzgou S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Puura K; Department of Child Psychiatry, Tampere University and Tampere University Hospital, Tampere, Finland.
Waltes R; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany.
Chiocchetti AG; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany.
Freitag CM; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany.
Satterstrom FK; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
De Rubeis S; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Buxbaum J; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Gelb BD; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Branko A; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Kushima I; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan; Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan.
Howe J; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.
Scherer SW; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.
Arado A; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Baldo C; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Patat O; Service de Génétique Médicale, Centre Hospitalier Universitaire de Toulouse, Toulouse, France.
Bénédicte D; Service de Génétique Clinique, Centre de référence maladies rares, CHU d'Amiens-site Sud, Amiens, France.
Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 2, 53100 Siena, Italy; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy.
Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy.
Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Rieß A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Krieg P; Department of Pediatrics, Städtisches Klinikum Karlsruhe, Karlsruhe, Germany.
Spranger S; Practice of Human Genetics, Bremen, Germany.
Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Iascone M; Laboratory of Medical Genetics, Ospedale Papa Giovanni XXIII, Bergamo, Italy.
Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Roscioli T; Neuroscience Research Australia, University of New South Wales, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW 2031, Australia; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW 2031, Australia.
Buckley MF; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia.
Liebelt J; South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, SA, Australia.
Dagli AI; Orlando Health Arnold Palmer Hospital for Children, Division of Genetics, Orlando, FL, USA.
Aten E; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands.
Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Hicks A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Suri M; Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham, UK.
Aliu E; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA.
Naik S; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA.
Sidlow R; Valley Children's Hospital, Valley Children's Place, Madera, CA 93636, USA.
Coursimault J; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.
Nicolas G; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.
Küpper H; Neuropediatric Department, University Hospital Tübingen, Tübingen, Germany.
Petit F; Centre Hospitalier Universitaire de Lille, Clinique de Génétique Guy Fontaine, Lille, France.
Ibrahim V; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.
Top D; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.
Di Cara F; Department of Microbiology and Immunology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.
Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA.
Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA.
Brunner HG; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands.
Vissers LELM; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.
Kramer JM; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada. Electronic address: jkramer@dal.ca.
Kleefstra T; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Center for Neuropsychiatry, Vincent van Gogh, Venray, the Netherlands; Department of Clinical Genetics, ErasmusMC, Rotterdam, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.
DB Label
Database : MEDLINE
원문보기
Open Access (PubMed Central)  Full Text (ScienceDirect O/A)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
9
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. 미리보기

학술저널

issue
HGG advances [HGG Adv] 2022 Nov 01; Vol. 4 (1), pp. 100157. Date of Electronic Publication: 2022 Nov 01 (Print Publication: 2023).
Author
Snijders Blok L; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.; Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Verseput J; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.
Rots D; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6500HB, the Netherlands.
Innes AM; The Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Stumpel C; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW-School for Oncology and Reproduction), Maastricht UMC+, Maastricht, the Netherlands.
Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Reinson K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Seaby EG; Translational Genomics Group, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Genomic Informatics Group, University Hospital Southampton, Southampton, UK.
McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast HSC Trust, Belfast BT9 7AB, UK.
Burton B; Ann and Robert H. Lurie Children's Hospital and Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Kim K; Ann and Robert H. Lurie Children's Hospital and Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
van Hagen JM; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Waisfisz Q; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
Steindl K; Institute of Medical Genetics, University of Zuirch, Schlieren-Zurich, Switzerland.
Rauch A; Institute of Medical Genetics, University of Zuirch, Schlieren-Zurich, Switzerland.; University Children's Hospital Zurich, Zurich, Switzerland.
Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Zackai EH; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Sheppard SE; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Keena B; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Roos A; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Centre for Neuromuscular Disorders in Children, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.
Kohlschmidt N; Institute of Clinical Genetics and Tumor Genetics, Bonn, Germany.
Cereda A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Iascone M; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Rebessi E; Pediatric Neurological Unit and Epilespy Center, Fatebenefratelli Hospital, Milan, Italy.
Kernohan KD; Newborn Screening Ontario, Children's Hospital of Eastern Ontario and Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
Campeau PM; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.; Sainte-Justine Hospital, University of Montreal, Montreal, QC H3T 1C5, Canada.
Millan F; GeneDx, Gaithersburg, MD 20877, USA.
Taylor JA; Division of Plastic Surgery, Department of Surgery, The Children's Hospital of Philadelpia, Philadelphia, PA, USA.
Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, the Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.
Higgs MR; Lysine Methylation and DNA Damage Laboratory, Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
Goula A; Lysine Methylation and DNA Damage Laboratory, Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
Bernhard B; North-West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Munroe-Meyer, Harrow, UK.
Velasco DJ; Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.
Schmanski AA; Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.
Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
Pais L; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Marcogliese PC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Raun N; Department of Biochemistry and Molecular Biology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.
Jakub TE; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.
Kramer JM; Department of Biochemistry and Molecular Biology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.
den Hoed J; Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.
Fisher SE; Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition & Behaviour, Radboud University, Nijmegen, the Netherlands.
Brunner HG; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW-School for Oncology and Reproduction), Maastricht UMC+, Maastricht, the Netherlands.
Kleefstra T; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
DB Label
Database : MEDLINE
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