Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Chiocchetti AG"'
Autor:
Lim, Elaine T., Uddin, Mohammed, De Rubeis, Silvia, Chan, Yingleong, Kamumbu, Anne S., Zhang, Xiaochang, D'Gama, Alissa M., Kim, Sonia N., Hill, Robert Sean, Goldberg, Arthur P., Poultney, Christopher, Minshew, Nancy J., Kushima, Itaru, Aleksic, Branko, Ozaki, Norio, Parellada, Mara, Arango, Celso, Penzol, Maria J., Carracedo, Angel, Kolevzon, Alexander, Hultman, Christina M., Weiss, Lauren A., Fromer, Menachem, Chiocchetti, Andreas G., Freitag, Christine M., Church, George M., Scherer, Stephen W., Buxbaum, Joseph D., Walsh, Christopher A, Aleksic, B, Anney, R, Barbosa, M, Barrett, J, Betancur, C, Bishop, S, Brusco, A, Buxbaum, Jd, Carracedo, A, Chiocchetti, Ag, Chung, Bhy, Cook, E, Coon, H, Cutler, Dj, Daly, M, De Rubeis, S, Doan, R, Fernández-Prieto, M, Ferrero, Gb, Freitag, Cm, Fromer, M, Gargus, J, Geschwind, D, Gill, M, Gómez-Guerrero, L, Hansen-Kiss, E, He, X, Herman, G, Hertz-Picciotto, I, Hultman, C, Iliadou, B, Ionita-Laza, I, Jugessur, A, Knudsen, Gp, Kolevzon, A, Kosmicki, J, Kushima, I, Lee, Sl, Lehner, T, Lennertz, S, Lim, E, Maciel, P, Magnus, P, Manoach, D, Minshew, N, Morrow, E, Mulle, J, Neale, B, Ozaki, N, Palotie, A, Parellada, M, Passos-Bueno, Mr, Pericak-Vance, M, Persico, A, Pessah, I, Reichenberg, A, Reichert, J, Renieri, A, Robinson, E, Samocha, K, Sanders, S, Sandin, S, Santangelo, Sl, Satterstrom, K, Schafer, C, Schellenberg, G, Scherer, S, Senthil, G, Silva, M, Singh, T, Siper, Pm, Soares, G, Stevens, C, Stoltenberg, C, Surén, P, Sutcliffe, Js, Szatmari, P, Tassone, F, Thurm, A, Walsh, C, Weiss, L, Werling, D, Willsey, J, Xu, X, Yu, Tw, Yuen, R, Zwick, Me.
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Nature Neuroscience
Nature Neuroscience, Nature Publishing Group, 2017, 20 (9), pp.1217-1224. ⟨10.1038/nn.4598⟩
Nature Neuroscience, 2017, 20 (9), pp.1217-1224. ⟨10.1038/nn.4598⟩
Nature neuroscience
Consejería de Sanidad de la Comunidad de Madrid
Nature Neuroscience
Nature Neuroscience, Nature Publishing Group, 2017, 20 (9), pp.1217-1224. ⟨10.1038/nn.4598⟩
Nature Neuroscience, 2017, 20 (9), pp.1217-1224. ⟨10.1038/nn.4598⟩
Nature neuroscience
International audience; We systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed resequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec4699aa2b3e33998a0424fa6605504e
http://hdl.handle.net/2318/1659858
http://hdl.handle.net/2318/1659858
Autor:
Joana Almeida, Christian R. Marshall, Hakon Hakonarson, Bárbara Oliveira, Anthony J. Griswold, Jacob A. S. Vorstman, Bhooma Thiruvahindrapuram, Suma Jacob, Judith Conroy, Alistair T. Pagnamenta, Christelle Cabrol, Jeremy R. Parr, Daniel H. Geschwind, Nancy J. Minshew, Xiao Xu, Richard Anney, Sven Bölte, Zhuozhi Wang, Emily L. Crawford, Elsa Delaby, Margaret A. Pericak-Vance, Joachim Hallmayer, Jonathan L. Haines, Dalila Pinto, Susana Mouga, Alexander Kolevzon, Elena Bacchelli, Frederico Duque, Bernie Devlin, Latha Soorya, Cátia Café, Kirsty Wing, Jennifer K. Lowe, Ana Tryfon, Stephen J. Guter, Geraldine Dawson, Tiago R. Magalhaes, Anthony J. Bailey, Michael Gill, Peter Szatmari, Steven Gallinger, Marion Pilorge, James S. Sutcliffe, Bridget A. Fernandez, Herman van Engeland, Catalina Betancur, Guiomar Oliveira, Andrew Green, Eftichia Duketis, Bernadette Rogé, Ann Le Couteur, Evdokia Anagnostou, Michelle Cotterchio, Daniele Merico, Giovanna Pellecchia, Jonathan Green, Regina Regan, Jillian P. Casey, Guiqing Cai, Gerard D. Schellenberg, Jennifer L. Howe, Elena Maestrini, Andrew D. Paterson, L. Alison McInnes, Patrick Bolton, Edwin H. Cook, Richard Delorme, Lambertus Klei, Thomas Bourgeron, Gillian Baird, Christine M. Freitag, Beth A. Dombroski, Andreas G. Chiocchetti, Sabine M. Klauck, Susan E. Folstein, Mafalda Barbosa, Anthony P. Monaco, Marion Leboyer, Nadia Bolshakova, Fritz Poustka, Richard Holt, Kerstin Wittemeyer, Wendy Roberts, Lonnie Zwaigenbaum, Louise Gallagher, Susan G. McGrew, Joseph D. Buxbaum, Graham Casey, Simon Wallace, Catherine Lord, Sean Brennan, Robert Ziman, Alison K. Merikangas, John I. Nurnberger, Christopher Gillberg, Ellen M. Wijsman, Astrid M. Vicente, Inȇs C. Conceição, Sean Ennis, Patricia Jiménez González, Hilary Coon, Raphael Bernier, John R. Gilbert, Ann P. Thompson, Susanne Thomson, Agatino Battaglia, Maretha de Jonge, Michael L. Cuccaro, Catarina Correia, Veronica J. Vieland, Stephen W. Scherer, Pauline Chaste
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2014, 94 (5), pp.677-694. ⟨10.1016/j.ajhg.2014.03.018⟩
American Journal of Human Genetics, 2014, 94 (5), pp.677-694. ⟨10.1016/j.ajhg.2014.03.018⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2014, 94 (5), pp.677-694. ⟨10.1016/j.ajhg.2014.03.018⟩
American Journal of Human Genetics, 2014, 94 (5), pp.677-694. ⟨10.1016/j.ajhg.2014.03.018⟩
International audience; Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus contr
Autor:
Gronau L; Department of Pediatrics, Division of Pneumology, Allergology, Infectious Diseases and Gastroenterology, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany., Duecker RP; Department of Pediatrics, Division of Pneumology, Allergology, Infectious Diseases and Gastroenterology, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany., Jerkic SP; Department of Pediatrics, Division of Pneumology, Allergology, Infectious Diseases and Gastroenterology, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany., Eickmeier O; Department of Pediatrics, Division of Pneumology, Allergology, Infectious Diseases and Gastroenterology, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany., Trischler J; Department of Pediatrics, Division of Pneumology, Allergology, Infectious Diseases and Gastroenterology, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany., Chiocchetti AG; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany., Blumchen K; Department of Pediatrics, Division of Pneumology, Allergology, Infectious Diseases and Gastroenterology, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany., Zielen S; Respiratory Research Institute, Medaimun GmbH, 60596 Frankfurt am Main, Germany., Schubert R; Department of Pediatrics, Division of Pneumology, Allergology, Infectious Diseases and Gastroenterology, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Jul 13; Vol. 25 (14). Date of Electronic Publication: 2024 Jul 13.
Autor:
Tönis KJM; Faculty of Behavioural, Management and Social Sciences, Section of Psychology, Health and Technology, University of Twente, 217 , Enschede, The Netherlands. k.j.m.tonis@utwente.nl., Drossaert CHC; Faculty of Behavioural, Management and Social Sciences, Section of Psychology, Health and Technology, University of Twente, 217 , Enschede, The Netherlands., Ten Klooster PM; Faculty of Behavioural, Management and Social Sciences, Section of Psychology, Health and Technology, University of Twente, 217 , Enschede, The Netherlands., Schaer M; Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Bourgeron T; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, IUF, Université Paris Cité, Paris, France., Buitelaar JK; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands.; Karakter Child and Adolescent Psychiatry University Centre, Nijmegen, The Netherlands., Sadaka Y; Pediatric Neurology Unit, Pediatric Division, Soroka Medical Center of the Negev, Beer Sheva, Israel., Freitag CM; Department of Child and Adolescent Psychiatry, Goethe University, Frankfurt Am Main, Germany., Lapidus KM; Negev Child Development Center of the Israel Ministry of Health, Beer Sheva, Israel., Chiocchetti AG; Department of Child and Adolescent Psychiatry, Goethe University, Frankfurt Am Main, Germany., Staal WG; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands.; Institute for Brain and Cognition, Leiden University, Leiden, The Netherlands.; Karakter Child and Adolescent Psychiatry University Centre, Nijmegen, The Netherlands., Bohlmeijer ET; Faculty of Behavioural, Management and Social Sciences, Section of Psychology, Health and Technology, University of Twente, 217 , Enschede, The Netherlands.
Publikováno v:
Trials [Trials] 2024 Jun 26; Vol. 25 (1), pp. 412. Date of Electronic Publication: 2024 Jun 26.
Autor:
Duecker RP; Department of Pediatrics, Division of Pneumology, Allergology, Infectious Diseases and Gastroenterology, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany., Alemdar O; Department of Pediatrics, Division of Pneumology, Allergology, Infectious Diseases and Gastroenterology, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany.; Respiratory Research Institute, Medaimun GmbH, 60596 Frankfurt am Main, Germany., Wimmers A; Department of Pediatrics, Division of Pneumology, Allergology, Infectious Diseases and Gastroenterology, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany.; Respiratory Research Institute, Medaimun GmbH, 60596 Frankfurt am Main, Germany., Gronau L; Department of Pediatrics, Division of Pneumology, Allergology, Infectious Diseases and Gastroenterology, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany., Chiocchetti AG; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany., Valesky EM; Department of Dermatology, Venerology and Allergology, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany., Donath H; Department of Pediatrics, Division of Pneumology, Allergology, Infectious Diseases and Gastroenterology, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany., Trischler J; Department of Pediatrics, Division of Pneumology, Allergology, Infectious Diseases and Gastroenterology, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany., Blumchen K; Department of Pediatrics, Division of Pneumology, Allergology, Infectious Diseases and Gastroenterology, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany., Zielen S; Department of Pediatrics, Division of Pneumology, Allergology, Infectious Diseases and Gastroenterology, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany.; Respiratory Research Institute, Medaimun GmbH, 60596 Frankfurt am Main, Germany., Schubert R; Department of Pediatrics, Division of Pneumology, Allergology, Infectious Diseases and Gastroenterology, University Hospital, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Jan 22; Vol. 25 (2). Date of Electronic Publication: 2024 Jan 22.
Autor:
Frueh JT; Department of Pediatrics, Experimental Immunology and Cell Therapy, Goethe University Frankfurt, Frankfurt am Main, Germany.; Department of Pediatrics, Goethe University Frankfurt, University Hospital, Frankfurt am Main, Germany., Campe J; Department of Pediatrics, Experimental Immunology and Cell Therapy, Goethe University Frankfurt, Frankfurt am Main, Germany.; Department of Pediatrics, Goethe University Frankfurt, University Hospital, Frankfurt am Main, Germany., Sunaga-Franze DY; Genomics Platform, Max Delbrueck Center for Molecular Medicine, Berlin Institute of Health, Berlin, Germany., Verheyden NA; Institute for Molecular Medicine, University Hospital, Goethe University Frankfurt, Frankfurt, Germany.; Molecular Immunology, Justus Liebig University Giessen, Giessen, Germany., Ghimire S; Hematology and Oncology Department, Medical Clinic 3, University Hospital Regensburg, Regensburg, Germany., Meedt E; Hematology and Oncology Department, Medical Clinic 3, University Hospital Regensburg, Regensburg, Germany., Haslinger D; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Goethe University Frankfurt, University Hospital, Frankfurt am Main, Germany., Harenkamp S; German Red Cross Blood Service BaWüHe, Frankfurt am Main, Germany., Staudenraus D; Institute for Microbiology, Philipps University, Marburg, Germany., Sauer S; Genomics Platform, Max Delbrueck Center for Molecular Medicine, Berlin Institute of Health, Berlin, Germany., Kreft A; Institute of Pathology, University Medical Center Mainz, Mainz, Germany., Schubert R; Department of Pediatric Medicine, Division of Pneumology, Allergology, Infectious diseaes und Gastroenterology. Frankfurt am Main, Goethe University Frankfurt, Frankfurt, Germany., Lohoff M; Institute for Microbiology, Philipps University, Marburg, Germany., Krueger A; Institute for Molecular Medicine, University Hospital, Goethe University Frankfurt, Frankfurt, Germany.; Molecular Immunology, Justus Liebig University Giessen, Giessen, Germany.; Frankfurt Cancer Institute (FCI), Goethe University, Frankfurt am Main, Germany., Bonig H; German Red Cross Blood Service BaWüHe, Frankfurt am Main, Germany.; Institute for Transfusion Medicine and Immunohematology, Goethe University, Frankfurt am Main, Germany., Chiocchetti AG; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Goethe University Frankfurt, University Hospital, Frankfurt am Main, Germany., Zeiser R; Department of Internal Medicine I, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Holler E; Hematology and Oncology Department, Medical Clinic 3, University Hospital Regensburg, Regensburg, Germany., Ullrich E; Department of Pediatrics, Experimental Immunology and Cell Therapy, Goethe University Frankfurt, Frankfurt am Main, Germany.; Department of Pediatrics, Goethe University Frankfurt, University Hospital, Frankfurt am Main, Germany.; Institute for Transfusion Medicine and Immunohematology, Goethe University, Frankfurt am Main, Germany.; German Cancer Consortium (DKTK), partner site Frankfurt/Mainz, a partnership between DKFZ, University Hospital Frankfurt, Frankfurt, Germany.; University Cancer Center (UCT), Frankfurt am Main, Germany.
Publikováno v:
Oncoimmunology [Oncoimmunology] 2023 Dec 27; Vol. 13 (1), pp. 2296712. Date of Electronic Publication: 2023 Dec 27 (Print Publication: 2024).
Autor:
Silber AS; Department of Psychiatry, Psychosomatics and Psychotherapy of Childhood and Adolescence, Goethe University Frankfurt, University Hospital, Frankfurt am Main, Germany., Platte S; Department of Psychiatry, Psychosomatics and Psychotherapy of Childhood and Adolescence, Goethe University Frankfurt, University Hospital, Frankfurt am Main, Germany., Kumar A; Department of Psychiatry, Psychosomatics and Psychotherapy of Childhood and Adolescence, Goethe University Frankfurt, University Hospital, Frankfurt am Main, Germany., Arora S; Department of Psychiatry, Psychosomatics and Psychotherapy of Childhood and Adolescence, Goethe University Frankfurt, University Hospital, Frankfurt am Main, Germany., Kadioglu D; Institute of Medical Informatics (IMI), Goethe University Frankfurt, University Hospital, Frankfurt am Main, Germany., Schmidt M; Institute of Medical Informatics (IMI), Goethe University Frankfurt, University Hospital, Frankfurt am Main, Germany., Storf H; Institute of Medical Informatics (IMI), Goethe University Frankfurt, University Hospital, Frankfurt am Main, Germany., Chiocchetti AG; Department of Psychiatry, Psychosomatics and Psychotherapy of Childhood and Adolescence, Goethe University Frankfurt, University Hospital, Frankfurt am Main, Germany., Freitag CM; Department of Psychiatry, Psychosomatics and Psychotherapy of Childhood and Adolescence, Goethe University Frankfurt, University Hospital, Frankfurt am Main, Germany.
Publikováno v:
Frontiers in public health [Front Public Health] 2023 Nov 30; Vol. 11, pp. 1281363. Date of Electronic Publication: 2023 Nov 30 (Print Publication: 2023).
Autor:
Jerkic SP; Division of Allergy, Pulmonology and Cystic Fibrosis, Department for Children and Adolescents, Goethe University, Frankfurt, Germany., Bächle L; Division of Allergy, Pulmonology and Cystic Fibrosis, Department for Children and Adolescents, Goethe University, Frankfurt, Germany., Duecker RP; Division of Allergy, Pulmonology and Cystic Fibrosis, Department for Children and Adolescents, Goethe University, Frankfurt, Germany., Gronau L; Division of Allergy, Pulmonology and Cystic Fibrosis, Department for Children and Adolescents, Goethe University, Frankfurt, Germany.; Department of Food Technology, University of Applied Science, Fulda, Germany., Chiocchetti AG; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-University, Frankfurt am Main 60590, Germany., Zielen S; Division of Allergy, Pulmonology and Cystic Fibrosis, Department for Children and Adolescents, Goethe University, Frankfurt, Germany., Schubert R; Division of Allergy, Pulmonology and Cystic Fibrosis, Department for Children and Adolescents, Goethe University, Frankfurt, Germany.
Publikováno v:
Mediators of inflammation [Mediators Inflamm] 2023 Jul 05; Vol. 2023, pp. 3406399. Date of Electronic Publication: 2023 Jul 05 (Print Publication: 2023).
Autor:
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; 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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.
Publikováno v:
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.
Autor:
McNeill RV; Department of Psychiatry, Psychosomatics and Psychotherapy, University Hospital Würzburg, D-97080 Würzburg, Germany. Electronic address: McNeill_R@ukw.de., Radtke F; Department of Psychiatry, Psychosomatics and Psychotherapy, University Hospital Würzburg, D-97080 Würzburg, Germany., Nieberler M; Department of Psychiatry, Psychosomatics and Psychotherapy, University Hospital Würzburg, D-97080 Würzburg, Germany., Koreny C; Department of Psychiatry, Psychosomatics and Psychotherapy, University Hospital Würzburg, D-97080 Würzburg, Germany., Chiocchetti AG; Department of Child and Adolescent Psychiatry and Psychotherapy, Goethe University Frankfurt, Frankfurt am Main, Germany., Kittel-Schneider S; Department of Psychiatry, Psychosomatics and Psychotherapy, University Hospital Würzburg, D-97080 Würzburg, Germany; Department of Psychiatry, Psychotherapy and Psychosomatic Medicine, University Hospital Frankfurt, Frankfurt, Germany.
Publikováno v:
Stem cell research [Stem Cell Res] 2023 Mar; Vol. 67, pp. 103016. Date of Electronic Publication: 2023 Jan 05.