المؤلفون: Riggs, Erin Rooney, Bingaman, Taylor, Barry, Carrie-Ann, Behlmann, Andrea, Bluske, Krista, Bostwick, Bret, Bright, Alison, Chen, Chun-An, Clause, Amanda, Dharmadhikari, Avinash, Ganapathi, Mythily, Gonzaga-Jauregui, Claudia, Grant, Andrew, Hughes, Madeline, Kim, Se Rin, Krause, Amanda, Liao, Jun, Lumaka, Aimé, Mah, Michelle, Maloney, Caitlin, Mohan, Shruthi, Osei-Owusu, Ikeoluwa, Reble, Emma, Rennie, Olivia, Savatt, Juliann, Shimelis, Hermela, Siegert, Rebecca, Sneddon, Tam, Thaxton, Courtney, Toner, Kelly, Tran, Kien Trung, Webb, Ryan, Wilcox, Emma, Yin, Jiani, Zhuo, Xinming, Znidarsic, Masa, Martin, Christa Lese, Betancur, Catalina, Vorstman, Jacob A.S., Miller, David, Schaaf, Christian

المساهمون: Geisinger Autism & Developmental Medicine Institute Danville, PA, USA (ADMI), Drexel University, Invitae Corporation, Illumina, Baylor College of Medicine (BCM), Baylor University, Natera San Carlos, CA, USA, Children’s Hospital Los Angeles Los Angeles, Keck School of Medicine Los Angeles, University of Southern California (USC), Columbia University Irving Medical Center (CUIMC), Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School Boston (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital Boston, New York Medical College (NYMC), University of Illinois Chicago (UIC), University of Illinois System, National Human Genome Research Institute (NHGRI), University of the Witwatersrand Johannesburg (WITS), Université de Liège, Trillium Health Partners - Mississauga Hospital Mississauga, ON, Canada (THP-MH), University of Washington Seattle, University of North Carolina Chapel Hill (UNC), University of North Carolina System (UNC), St. Michael's Hospital, The Hospital for sick children Toronto (SickKids), Garvan Institute of medical research, Warren Alpert Medical School of Brown University, University of California Los Angeles (UCLA), University of California (UC), The Jackson Laboratory Bar Harbor (JAX), University Medical Centre Ljubljana Ljubljana, Slovenia (UMCL), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Boston Children's Hospital, Harvard Medical School Boston (HMS), Heidelberg University Hospital Heidelberg, This work was supported by the National Human Genome Research Institute of the National Institutes of Health under award number U24HG006834.

المصدر: https://inserm.hal.science/inserm-03816347Test ; 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩.

مصطلحات موضوعية: Autism, ClinGen, Gene–disease validity, Intellectual disability, Neurodevelopmental disorders, MESH: Autism Spectrum Disorder* / diagnosis, MESH: Autism Spectrum Disorder* / genetics, MESH: Autistic Disorder* / diagnosis, MESH: Autistic Disorder* / genetics, MESH: Humans, MESH: Intellectual Disability* / diagnosis, MESH: Intellectual Disability* / genetics, MESH: Neurodevelopmental Disorders* / genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35616647; inserm-03816347; https://inserm.hal.science/inserm-03816347Test; https://inserm.hal.science/inserm-03816347/documentTest; https://inserm.hal.science/inserm-03816347/file/Riggs%20ClinGen%20ID%20autism%20Genet%20Med%202022.pdfTest; PUBMED: 35616647

الإتاحة: https://doi.org/10.1016/j.gim.2022.05.001Test
https://inserm.hal.science/inserm-03816347Test
https://inserm.hal.science/inserm-03816347/documentTest
https://inserm.hal.science/inserm-03816347/file/Riggs%20ClinGen%20ID%20autism%20Genet%20Med%202022.pdfTest

المؤلفون: Faundes, Víctor, Goh, Stephanie, Akilapa, Rhoda, Bezuidenhout, Heidre, Bjornsson, Hans, T, Bradley, Lisa, Brady, Angela, F, Brischoux-Boucher, Elise, Brunner, Han, Bulk, Saskia, Canham, Natalie, Cody, Declan, Dentici, Maria, Lisa, Digilio, Maria, Cristina, Elmslie, Frances, Fry, Andrew, E, Gill, Harinder, Hurst, Jane, Johnson, Diana, Julia, Sophie, Lachlan, Katherine, Lebel, Robert, Roger, Byler, Melissa, Gershon, Eric, Lemire, Edmond, Gnazzo, Maria, Lepri, Francesca, Romana, Marchese, Antonia, Mcentagart, Meriel, Mcgaughran, Julie, Mizuno, Seiji, Okamoto, Nobuhiko, Rieubland, Claudine, Rodgers, Jonathan, Sasaki, Erina, Scalais, Emmanuel, Scurr, Ingrid, Suri, Mohnish, van der Burgt, Ineke, Matsumoto, Naomichi, Miyake, Noriko, Benoit, Valérie, Lederer, Damien, Banka, Siddharth

المساهمون: Faculty of Biology, Medicine and Health Manchester, UK, University of Manchester Manchester, Instituto de Nutricion y Tecnologia de los Alimentos Santiago (INTA), Universidad de Chile = University of Chile Santiago (UCHILE), Northwick Park Hospital Harrow, UK (NPH), Tygerberg Academic Hospital, Stellenbosch University, Johns Hopkins University School of Medicine Baltimore, University of Iceland Reykjavik, Our Lady's Children's Hospital Crumlin (OLCHC), Centre de génétique humaine CHRU Besançon, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Radboud University Medical Center Nijmegen, Biochimie génétique CHU Liège, Centre Hospitalier Universitaire de Liège (CHU-Liège), Manchester University NHS Foundation Trust (MFT), St George’s University Hospitals, University Hospital of Wales (UHW), Great Ormond Street Hospital for Children London (GOSH), Sheffield Children's NHS Foundation Trust, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Equipe BIOETHICS (CERPOP), Centre d'Epidémiologie et de Recherche en santé des POPulations (CERPOP), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), University Hospital Southampton NHS Foundation Trust, University of Southampton, IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, University of Southern Queensland (USQ), Gifu University Graduate School of Medicine, Universität Bern / University of Bern (UNIBE), Centre Hospitalier de Luxembourg Luxembourg (CHL), Nottingham University Hospitals NHS Trust (NUH)

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: MESH: Abnormalities, Multiple, MESH: DNA-Binding Proteins / genetics, MESH: Male, MESH: Neoplasm Proteins / genetics, MESH: Phenotype, MESH: Sex Characteristics, MESH: Vestibular Diseases, MESH: Face / abnormalities, MESH: Female, MESH: Genetic Association Studies, MESH: Hematologic Diseases, MESH: Histone Demethylases / genetics, MESH: Humans, MESH: Infant, Newborn, MESH: Intellectual Disability* / genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33674768; hal-04312550; https://ut3-toulouseinp.hal.science/hal-04312550Test; https://ut3-toulouseinp.hal.science/hal-04312550/documentTest; https://ut3-toulouseinp.hal.science/hal-04312550/file/Faundes_2021.pdfTest; PUBMED: 33674768; PUBMEDCENTRAL: PMC8257478

الإتاحة: https://doi.org/10.1038/s41436-021-01119-8Test
https://ut3-toulouseinp.hal.science/hal-04312550Test
https://ut3-toulouseinp.hal.science/hal-04312550/documentTest
https://ut3-toulouseinp.hal.science/hal-04312550/file/Faundes_2021.pdfTest

المؤلفون: Erin Rooney Riggs, Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick, Alison Bright, Chun-An Chen, Amanda R. Clause, Avinash V. Dharmadhikari, Mythily Ganapathi, Claudia Gonzaga-Jauregui, Andrew R. Grant, Madeline Y. Hughes, Se Rin Kim, Amanda Krause, Jun Liao, Aimé Lumaka, Michelle Mah, Caitlin M. Maloney, Shruthi Mohan, Ikeoluwa A. Osei-Owusu, Emma Reble, Olivia Rennie, Juliann M. Savatt, Hermela Shimelis, Rebecca K. Siegert, Tam P. Sneddon, Courtney Thaxton, Kelly A. Toner, Kien Trung Tran, Ryan Webb, Emma H. Wilcox, Jiani Yin, Xinming Zhuo, Masa Znidarsic, Christa Lese Martin, Catalina Betancur, Jacob A.S. Vorstman, David T. Miller, Christian P. Schaaf

المساهمون: Geisinger Autism & Developmental Medicine Institute [Danville, PA, USA] (ADMI), Drexel University, Invitae Corporation, Illumina, Baylor College of Medicine (BCM), Baylor University, Natera [San Carlos, CA, USA], Children’s Hospital Los Angeles [Los Angeles], Keck School of Medicine [Los Angeles], University of Southern California (USC), Columbia University Irving Medical Center (CUIMC), Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], New York Medical College (NYMC), University of Illinois [Chicago] (UIC), University of Illinois System, National Human Genome Research Institute (NHGRI), University of the Witwatersrand [Johannesburg] (WITS), Université de Liège, Trillium Health Partners - Mississauga Hospital [Mississauga, ON, Canada] (THP-MH), University of Washington [Seattle], University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), St. Michael's Hospital, The Hospital for sick children [Toronto] (SickKids), Garvan Institute of medical research, Warren Alpert Medical School of Brown University, University of California [Los Angeles] (UCLA), University of California (UC), The Jackson Laboratory [Bar Harbor] (JAX), University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Heidelberg University Hospital [Heidelberg], This work was supported by the National Human Genome Research Institute of the National Institutes of Health under award number U24HG006834., Betancur, Catalina

المصدر: Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩

مصطلحات موضوعية: ClinGen, MESH: Humans, Autism Spectrum Disorder, Autism, MESH: Autism Spectrum Disorder* / genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Autism Spectrum Disorder* / diagnosis, MESH: Intellectual Disability* / diagnosis, MESH: Intellectual Disability* / genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurodevelopmental Disorders, Intellectual Disability, MESH: Autistic Disorder* / genetics, MESH: Autistic Disorder* / diagnosis, Humans, Autistic Disorder, MESH: Neurodevelopmental Disorders* / genetics, Genetics (clinical), Gene–disease validity

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b07ead00b13dfac939c5dc9322d918b8Test
https://doi.org/10.1016/j.gim.2022.05.001Test

المؤلفون: Mortreux, Jeremie, Busa, Tiffany, Germain, Dominique P., Nadeau, Gwenaël, Puechberty, Jacques, Coubes, Christine, Gatinois, Vincent, Cacciagli, Pierre, Duffourd, Yannis, Pinard, Jean-Marc, Tevissen, Hélène, Villard, Laurent, Sanlaville, Damien, Philip, Nicole, Missirian, Chantal

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Raymond Poincaré AP-HP, Service de Cytogénétique, Centre hospitalier de Valence, Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Clinique, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Montpellier, FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Université Bourgogne Franche-Comté COMUE (UBFC), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Service de neurologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Raymond Poincaré AP-HP, Centre Hospitalier de Valence (CH DE VALENCE), Service de Cytogénétique (HFME), Hôpital Femme Mère Enfant CHU - HCL (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), We thank the families for their cooperation. We also thank all the lab technicians involved in this research. Affymetrix microarrays were processed in the Microarray Core Facility of the Institute in Regenerative Medicine and Biotherapy, CHRU-INSERM-UM Montpellier, http://irmb.chu-montpellier.frTest.

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: Cytogenetics, Medical genetics, Neurodevelopmental disorders, MESH: Abnormalities, Multiple/genetics, MESH: DNA Copy Number Variations, MESH: Intellectual Disability/genetics, [SDV]Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29187737; hal-01668647; https://amu.hal.science/hal-01668647Test; https://amu.hal.science/hal-01668647/documentTest; https://amu.hal.science/hal-01668647/file/IRMB%2069_P45_%20The%20role%20of%20CNVs%20in%20the%20etiology%20of%20rare%20autosomal%20%20recessive%20disorders_the%20example%20of%20TRAPPC9-associated%20intellectual%20disability_41431_2017_Article_18.pdfTest; PUBMED: 29187737; PUBMEDCENTRAL: PMC5838970

الإتاحة: https://doi.org/10.1038/s41431-017-0018-xTest
https://amu.hal.science/hal-01668647Test
https://amu.hal.science/hal-01668647/documentTest
https://amu.hal.science/hal-01668647/file/IRMB%2069_P45_%20The%20role%20of%20CNVs%20in%20the%20etiology%20of%20rare%20autosomal%20%20recessive%20disorders_the%20example%20of%20TRAPPC9-associated%20intellectual%20disability_41431_2017_Article_18.pdfTest

المؤلفون: Delplanque, Jérôme, Devos, David, Huin, Vincent, Genet, Alexandre, Sand, Olivier, Moreau, Caroline, Goizet, Cyril, Charles, Perrine, Anheim, Mathieu, Monin, Marie Lorraine, Buée, Luc, Destée, Alain, Grolez, Guillaume, Delmaire, Christine, Dujardin, Kathy, Dellacherie, Delphine, Brice, Alexis, Stevanin, Giovanni, Strubi-Vuillaume, Isabelle, Durr, Alexandra, Sablonnière, Bernard

المساهمون: Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases - UMR 8199 - UMR 1283 (EGENODIA (GI3M)), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Département de neurologie Lille, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Pôle de Biologie Pathologie Génétique CHU Lille, Maladies Rares - Génétique et Métabolisme (MRGM), Université Bordeaux Segalen - Bordeaux 2-Hôpital Pellegrin-Service de Génétique Médicale du CHU de Bordeaux, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Integrative Biology - CBI (Inserm U964 - CNRS UMR7104 - IGBMC), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Departement de Neuroradiologie Lille, Service de neurologie pédiatrique CHU Lille, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM), ANR-10-EQPX-0007,LIGAN PM,Plate forme Lilloise de séquençage du génome humain pour une médecine personnalisée(2010)

المصدر: ISSN: 0006-8950.

مصطلحات موضوعية: Spinocerebellar ataxia, TMEM240, exome, MESH: Adolescent, MESH: Age of Onset, MESH: Spinocerebellar Degenerations / psychology, MESH: Young Adult, MESH: Intellectual Disability / psychology, MESH: Child, Preschool, MESH: Chromosomes, Human, Pair 1 / genetics, MESH: Cognition Disorders / genetics, MESH: Exome / genetics, MESH: Cognition Disorders / psychology, MESH: Cohort Studies, MESH: Conserved Sequence, MESH: Mutation / physiology, MESH: Female, MESH: France, MESH: Genetic Linkage, MESH: Intelligence Tests, MESH: Humans, MESH: Infant, MESH: Intellectual Disability / genetics, MESH: Amino Acid Sequence, MESH: Introns, MESH: Male, MESH: Neuropsychological Tests

العلاقة: info:eu-repo/semantics/altIdentifier/arxiv/2011.10771; info:eu-repo/semantics/altIdentifier/pmid/25070513; inserm-03017555; https://inserm.hal.science/inserm-03017555Test; https://inserm.hal.science/inserm-03017555/documentTest; https://inserm.hal.science/inserm-03017555/file/Delplanque.Brain.2014.Author.version.pdfTest; ARXIV: 2011.10771; PUBMED: 25070513

الإتاحة: https://doi.org/10.1093/brain/awu202Test
https://inserm.hal.science/inserm-03017555Test
https://inserm.hal.science/inserm-03017555/documentTest
https://inserm.hal.science/inserm-03017555/file/Delplanque.Brain.2014.Author.version.pdfTest

المؤلفون: Salpietro, Vincenzo, Dixon, Christine, Guo, Hui, Bello, Oscar, Vandrovcova, Jana, J, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceição, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Del, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin, Santiago-Sim, Teresa, Person, Richard, E., Cho, Megan, T, Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael, Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad, Jaeger, Bregje, Schneider, Amy, Boysen, Katja, Muir, Alison, Myers, Candace, Gavrilova, Ralitza, Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric, Dyment, David, Osmond, Matthew, M, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Héron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John, N., de Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather, Scheffer, Ingrid, E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James, E, Eichler, Evan, Kullmann, Dimitri, Houlden, Henry, Dauvilliers, Yves

المساهمون: University College of London London (UCL), Instituto Giannina Gaslini, Genoa, Università degli studi di Genova = University of Genoa (UniGe), University of Washington Seattle, Institute of Neurology, Queen Square, London, King‘s College London, UCL Institute of Neurology, Queen Square London, Molecular and Clinical Sciences Institute - St George’s London, UK (Genetics Research Centre), University of London London, Tel Aviv University (TAU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), GeneDx Gaithersburg, MD, USA, Heidelberg University Hospital Heidelberg, Royal Devon and Exeter NHS Foundation Trust UK, Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Great Ormond Street Hospital for Children London (GOSH), The University of Sydney, Hofstra University Hempstead, Università degli studi di Torino = University of Turin (UNITO), Hospital Sant Joan de Déu Barcelona, Safra Children's Hospital, Seoul National University Hospital, Central South University Changsha, Kennedy Krieger Institute Baltimore, University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA), University of Melbourne, Mayo Clinic Rochester, Department of Health Sciences Research Mayo Clinic (HSR), Mayo Clinic, University of Ottawa Ottawa, University of British Columbia (UBC), Universidad Complutense de Madrid = Complutense University of Madrid Madrid (UCM), Universidade de Santiago de Compostela Spain (USC ), Universiteit Leiden = Leiden University, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Università degli studi di Palermo - University of Palermo, Università degli studi di Trieste = University of Trieste, Universitat Autònoma de Barcelona = Autonomous University of Barcelona = Universidad Autónoma de Barcelona (UAB), Department of Neurology and Center for Neuroscience, University of California at Davis, Sacramento, University of California Davis (UC Davis), University of California (UC)-University of California (UC), Children’s Hospital Colorado, University of Colorado Anschutz Aurora, Washington University in Saint Louis (WUSTL), Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, Department of Psychiatry, Laboratory of Molecular Biophysics, Department of Biochemistry, University of Oxford, University of Oxford, Universidade de São Paulo = University of São Paulo (USP), Service de Pédiatrie, CHUR Poitiers, Seoul National University Seoul (SNU), Pediatric Neurology and Neuromuscular Diseases Unit, University of Manchester Manchester, Yale School of Medicine New Haven, Connecticut (YSM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)

المصدر: ISSN: 2041-1723.

مصطلحات موضوعية: MESH: Intellectual Disability/genetics, Neurodevelopmental Disorders/genetics, Receptors AMPA/genetics, Heterozygote, [SCCO.NEUR]Cognitive science/Neuroscience, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics

العلاقة: hal-02577355; https://hal.umontpellier.fr/hal-02577355Test; PUBMEDCENTRAL: PMC6626132

الإتاحة: https://doi.org/10.1038/s41467-019-10910-wTest
https://hal.umontpellier.fr/hal-02577355Test

المؤلفون: Vincenzo Salpietro1, 2 3, 140, Christine L. Dixon4, Hui Guo5, 6 140, Oscar D. Bello Stephanie Efthymiou 1, 4, Reza Maroofian1, Gali Heimer7, Lydie Burglen 8, Stephanie Valence 9, Erin Torti 10, Moritz Hacke11, Julia Rankin12, Huma Tariq1, Estelle Colin13, Vincent Procaccio13, Pasquale Striano2, 3, Kshitij Mankad15, Andreas Lieb 4, Sharon Chen16, Laura Pisani16, Conceicao Bettencourt 17, Roope Männikkö 1, Andreea Manole1, Alfredo Brusco 18, Enrico Grosso18, Giovanni Battista Ferrero19, Judith Armstrong-Moron20, Sophie Gueden21, Omer Bar-Yosef7, Michal Tzadok7, Kristin G. Monaghan10, Teresa Santiago-Sim10, Richard E. Person10, Megan T. Cho10, Rebecca Willaert10, Yongjin Yoo22, Jong-Hee Chae23, Yingting Quan6, Huidan Wu6, Tianyun Wang5, 6, Raphael A. Bernier24, Kun Xia6, Alyssa Blesson25, Mahim Jain25, Mohammad M. Motazacker26, Bregje Jaeger27, Amy L. Schneider 28, Katja Boysen28, Alison M. Muir 29, Candace T. Myers30, Ralitza H. Gavrilova31, Lauren Gunderson31, Laura Schultz-Rogers 31, Eric W. Klee31, David Dyment32, Matthew Osmond32, 33 34, Mara Parellada35, Cloe Llorente36, Javier Gonzalez-Peñas37, Angel Carracedo38, Arie Van Haeringen40, Claudia Ruivenkamp40, Caroline Nava41, Delphine Heron41, Rosaria Nardello42, Michele Iacomino43, Carlo Minetti2, Aldo Skabar44, Antonella Fabretto44, SYNAPS Study GroupMiquel Raspall-Chaure45, Michael Chez46, Anne Tsai47, Emily Fassi48, Marwan Shinawi48, John N. Constantino49, Rita De Zorzi50, Sara Fortuna 50, Fernando Kok51, Boris Keren41, Dominique Bonneau13, Murim Choi 22, Bruria Benzeev7, Federico Zara43, Heather C. Mefford29, Ingrid E. Scheffer28, Jill Clayton-Smith53, Alfons Macaya45, James E. Rothman4, Evan E. Eichler 5, Dimitri M. Kullmann 4, Henry Houlden 1, SYNAPS Study Group Michael G. Hanna1, Enrico Bugiardini1, Isabel Hostettler1, Benjamin O’Callaghan1, Alaa Khan1, Andrea Cortese1, Emer O’Connor1, Wai Y. Yau1, Thomas Bourinaris1, Rauan Kaiyrzhanov1, Viorica Chelban1, Monika Madej1, Maria C. Diana2, Maria S. Vari2, Marina Pedemonte2, Claudio Bruno2, Ganna Balagura3, Marcello Scala3, Chiara Fiorillo3, Lino Nobili3, Nancy T. Malintan4, Maria N. Zanetti4, Shyam S. Krishnakumar4, Gabriele Lignani4, James E. C. Jepson4, Paolo Broda43, Simona Baldassari43, Pia Rossi43, Floriana Fruscione43, Francesca Madia43, Monica Traverso43, Patrizia De-Marco43, Belen Pérez-Dueñas45, Francina Munell45, Yamna Kriouile57, Mohamed El-Khorassani57, Blagovesta Karashova58, Daniela Avdjieva58, Hadil Kathom58, Radka Tincheva58, Lionel Van-Maldergem59, Wolfgang Nachbauer60, Sylvia Boesch60, Antonella Gagliano61, Elisabetta Amadori62, Jatinder S. Goraya63, Tipu Sultan64, Salman Kirmani65, Shahnaz Ibrahim66, Farida Jan66, Jun Mine67, Selina Banu68, Pierangelo Veggiotti69, Gian V. Zuccotti69, Michel D. Ferrari70, Arn M. J. Van Den Maagdenberg70, Alberto Verrotti71, Gian L. Marseglia72, Salvatore Savasta72, Miguel A. Soler73, Carmela Scuderi74, Eugenia Borgione74, Roberto Chimenz75, Eloisa Gitto75, Valeria Dipasquale75, Alessia Sallemi75, Monica Fusco75, Caterina Cuppari75, Maria C. Cutrupi75, Martino Ruggieri76, Armando Cama77, Valeria Capra77, Niccolò E. Mencacci78, Richard Boles79, Neerja Gupta80, Madhulika Kabra80, Savvas Papacostas81, Eleni Zamba-Papanicolaou81, Efthymios Dardiotis82, Shazia Maqbool83, Nuzhat Rana84, Osama Atawneh85, Shen Y. Lim86, Farooq Shaikh87, George Koutsis88, Marianthi Breza88, Domenico A. Coviello89, Yves A. Dauvilliers90, Issam AlKhawaja91, Mariam AlKhawaja92, Fuad Al-Mutairi93, Tanya Stojkovic94, Veronica Ferrucci, Massimo Zollo, Fowzan S. Alkuraya96, Maria Kinali97, Hamed Sherifa98, Hanene Benrhouma99, Ilhem B. Y. Turki99, Meriem Tazir100, Makram Obeid101, Sophia Bakhtadze102, Nebal W. Saadi103, Maha S. Zaki104, Chahnez C. Triki105, Fabio Benfenati106, Stefano Gustincich106, Majdi Kara107, Vincenzo Belcastro108, Nicola Specchio109, Giuseppe Capovilla110, Ehsan G. Karimiani111, Ahmed M. Salih112, Njideka U. Okubadejo113, Oluwadamilola O. Ojo113, Olajumoke O. Oshinaike113, Olapeju Oguntunde113, Kolawole Wahab114, Abiodun H. Bello114, Sanni Abubakar115, Yahaya Obiabo116, Ernest Nwazor117, Oluchi Ekenze118, Uduak Williams119, Alagoma Iyagba120, Lolade Taiwo121, Morenikeji Komolafe122, Konstantin Senkevich123, Chingiz Shashkin124, Nazira Zharkynbekova125, Kairgali Koneyev126, Ganieva Manizha127, Maksud Isrofilov127, Ulviyya Guliyeva128, Kamran Salayev129, Samson Khachatryan130, Salvatore Rossi131, Gabriella Silvestri131, Nourelhoda Haridy132, Luca A. Ramenghi133, Georgia Xiromerisiou134, Emanuele David135, Mhammed Aguennouz136, Liana Fidani137, Cleanthe Spanaki138, Arianna Tucci139

المساهمون: University College of London [London] (UCL), Instituto Giannina Gaslini, Genoa, University of Genoa (UNIGE), University of Washington [Seattle], Institute of Neurology, Queen Square, London, King‘s College London, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, Molecular and Clinical Sciences Institute - St George’s [London, UK] (Genetics Research Centre), University of London [London], Tel Aviv University Sackler School of Medicine [Tel Aviv, Israël], Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), GeneDx [Gaithersburg, MD, USA], Heidelberg University Hospital [Heidelberg], Royal Devon and Exeter NHS Foundation Trust [UK], Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Universita degli studi di Genova, Great Ormond Street Hospital for Children [London] (GOSH), The University of Sydney, Hofstra University [Hempstead], Università degli studi di Torino (UNITO), Hospital Sant Joan de Déu [Barcelona], Safra Children's Hospital, Seoul National University Hospital, Central South University [Changsha], Kennedy Krieger Institute [Baltimore], University of Amsterdam [Amsterdam] (UvA), University of Melbourne, Mayo Clinic [Rochester], Department of Health Sciences Research [Mayo Clinic] (HSR), Mayo Clinic, University of Ottawa [Ottawa], University of British Columbia (UBC), Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), Universidade de Santiago de Compostela [Spain] (USC ), Universiteit Leiden [Leiden], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli studi di Palermo - University of Palermo, University of Trieste, Universitat Autònoma de Barcelona (UAB), Department of Neurology and Center for Neuroscience, University of California at Davis, Sacramento, University of California [Davis] (UC Davis), University of California-University of California, Children’s Hospital Colorado, University of Colorado Anschutz [Aurora], Washington University in Saint Louis (WUSTL), Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, Department of Psychiatry, Laboratory of Molecular Biophysics, Department of Biochemistry, University of Oxford, University of Oxford [Oxford], University of São Paulo (USP), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Service de Pédiatrie, CHUR Poitiers, Seoul National University [Seoul] (SNU), Pediatric Neurology and Neuromuscular Diseases Unit, University of Manchester [Manchester], Yale University School of Medicine, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Salvy-Córdoba, Nathalie, Università degli studi di Genova = University of Genoa (UniGe), Tel Aviv University (TAU), Università degli studi di Torino = University of Turin (UNITO), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Università degli studi di Trieste = University of Trieste, University of California (UC)-University of California (UC), University of Oxford, Universidade de São Paulo = University of São Paulo (USP), Yale School of Medicine [New Haven, Connecticut] (YSM), Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H, Salpietro, Vincenzo, Dixon, Christine L, Guo, Hui, Bello, Oscar D, Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andrea, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G, Santiago-Sim, Teresa, Person, Richard E, Cho, Megan T, Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A, Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M, Jaeger, Bregje, Schneider, Amy L, Boysen, Katja, Muir, Alison M, Myers, Candace T, Gavrilova, Ralitza H, Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W, Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N, De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Bori, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C, Scheffer, Ingrid E, Clayton-Smith, Jill, Macaya, Alfon, Rothman, James E, Eichler, Evan E, Kullmann, Dimitri M, Houlden, Henry, Salpietro1, Vincenzo, 3, 2, Dixon4, Christine L., Guo5, Hui, 140, 6, Bello Stephanie Efthymiou 1, Oscar D., Maroofian1, Reza, Heimer7, Gali, 8, Lydie Burglen, 9, Stephanie Valence, Torti 10, Erin, Hacke11, Moritz, Rankin12, Julia, Tariq1, Huma, Colin13, Estelle, Procaccio13, Vincent, Striano2, Pasquale, Mankad15, Kshitij, 4, Andreas Lieb, Chen16, Sharon, Pisani16, Laura, Bettencourt 17, Conceicao, 1, Roope Männikkö, Manole1, Andreea, Brusco 18, Alfredo, Grosso18, Enrico, Battista Ferrero19, Giovanni, Armstrong-Moron20, Judith, Gueden21, Sophie, Bar-Yosef7, Omer, Tzadok7, Michal, Monaghan10, Kristin G., Santiago-Sim10, Teresa, Person10, Richard E., Cho10, Megan T., Willaert10, Rebecca, Yoo22, Yongjin, Chae23, Jong-Hee, Quan6, Yingting, Wu6, Huidan, Wang5, Tianyun, Bernier24, Raphael A., Xia6, Kun, Blesson25, Alyssa, Jain25, Mahim, Motazacker26, Mohammad M., Jaeger27, Bregje, Schneider 28, Amy L., Boysen28, Katja, Muir 29, Alison M., Myers30, Candace T., Gavrilova31, Ralitza H., Gunderson31, Lauren, Schultz-Rogers 31, Laura, Klee31, Eric W., Dyment32, David, Osmond32, Matthew, 34, 33, Parellada35, Mara, Llorente36, Cloe, Gonzalez-Peñas37, Javier, Carracedo38, Angel, Van Haeringen40, Arie, Ruivenkamp40, Claudia, Nava41, Caroline, Heron41, Delphine, Nardello42, Rosaria, Iacomino43, Michele, Minetti2, Carlo, Skabar44, Aldo, Fabretto44, Antonella, Study GroupMiquel Raspall-Chaure45, Synap, Chez46, Michael, Tsai47, Anne, Fassi48, Emily, Shinawi48, Marwan, Constantino49, John N., De Zorzi50, Rita, Fortuna 50, Sara, Kok51, Fernando, Keren41, Bori, Bonneau13, Dominique, Choi 22, Murim, Benzeev7, Bruria, Zara43, Federico, Mefford29, Heather C., Scheffer28, Ingrid E., Clayton-Smith53, Jill, Macaya45, Alfon, Rothman4, James E., Eichler 5, Evan E., Kullmann 4 &, Dimitri M., 1, Henry Houlden, Hanna1, SYNAPS Study Group Michael G., Bugiardini1, Enrico, Hostettler1, Isabel, O’Callaghan1, Benjamin, Khan1, Alaa, Cortese1, Andrea, O’Connor1, Emer, Yau1, Wai Y., Bourinaris1, Thoma, Kaiyrzhanov1, Rauan, Chelban1, Viorica, Madej1, Monika, Diana2, Maria C., Vari2, Maria S., Pedemonte2, Marina, Bruno2, Claudio, Balagura3, Ganna, Scala3, Marcello, Fiorillo3, Chiara, Nobili3, Lino, Malintan4, Nancy T., Zanetti4, Maria N., Krishnakumar4, Shyam S., Lignani4, Gabriele, Jepson4, James E. C., Broda43, Paolo, Baldassari43, Simona, Rossi43, Pia, Fruscione43, Floriana, Madia43, Francesca, Traverso43, Monica, De-Marco43, Patrizia, Pérez-Dueñas45, Belen, Munell45, Francina, Kriouile57, Yamna, El-Khorassani57, Mohamed, Karashova58, Blagovesta, Avdjieva58, Daniela, Kathom58, Hadil, Tincheva58, Radka, Van-Maldergem59, Lionel, Nachbauer60, Wolfgang, Boesch60, Sylvia, Gagliano61, Antonella, Amadori62, Elisabetta, Goraya63, Jatinder S., Sultan64, Tipu, Kirmani65, Salman, Ibrahim66, Shahnaz, Jan66, Farida, Mine67, Jun, Banu68, Selina, Veggiotti69, Pierangelo, Zuccotti69, Gian V., Ferrari70, Michel D., Van Den Maagdenberg70, Arn M. J., Verrotti71, Alberto, Marseglia72, Gian L., Savasta72, Salvatore, Soler73, Miguel A., Scuderi74, Carmela, Borgione74, Eugenia, Chimenz75, Roberto, Gitto75, Eloisa, Dipasquale75, Valeria, Sallemi75, Alessia, Fusco75, Monica, Cuppari75, Caterina, Cutrupi75, Maria C., Ruggieri76, Martino, Cama77, Armando, Capra77, Valeria, Mencacci78, Niccolò E., Boles79, Richard, Gupta80, Neerja, Kabra80, Madhulika, Papacostas81, Savva, Zamba-Papanicolaou81, Eleni, Dardiotis82, Efthymio, Maqbool83, Shazia, Rana84, Nuzhat, Atawneh85, Osama, Lim86, Shen Y., Shaikh87, Farooq, Koutsis88, George, Breza88, Marianthi, Coviello89, Domenico A., Dauvilliers90, Yves A., Alkhawaja91, Issam, Alkhawaja92, Mariam, Al-Mutairi93, Fuad, Stojkovic94, Tanya, Ferrucci, Veronica, Zollo, Massimo, Alkuraya96, Fowzan S., Kinali97, Maria, Sherifa98, Hamed, Benrhouma99, Hanene, Turki99, Ilhem B. Y., Tazir100, Meriem, Obeid101, Makram, Bakhtadze102, Sophia, Saadi103, Nebal W., Zaki104, Maha S., Triki105, Chahnez C., Benfenati106, Fabio, Gustincich106, Stefano, Kara107, Majdi, Belcastro108, Vincenzo, Specchio109, Nicola, Capovilla110, Giuseppe, Karimiani111, Ehsan G., Salih112, Ahmed M., Okubadejo113, Njideka U., Ojo113, Oluwadamilola O., Oshinaike113, Olajumoke O., Oguntunde113, Olapeju, Wahab114, Kolawole, Bello114, Abiodun H., Abubakar115, Sanni, Obiabo116, Yahaya, Nwazor117, Ernest, Ekenze118, Oluchi, Williams119, Uduak, Iyagba120, Alagoma, Taiwo121, Lolade, Komolafe122, Morenikeji, Senkevich123, Konstantin, Shashkin124, Chingiz, Zharkynbekova125, Nazira, Koneyev126, Kairgali, Manizha127, Ganieva, Isrofilov127, Maksud, Guliyeva128, Ulviyya, Salayev129, Kamran, Khachatryan130, Samson, Rossi131, Salvatore, Silvestri131, Gabriella, Haridy132, Nourelhoda, Ramenghi133, Luca A., Xiromerisiou134, Georgia, David135, Emanuele, Aguennouz136, Mhammed, Fidani137, Liana, Spanaki138 &, Cleanthe, Tucci139, Arianna

المصدر: NATURE COMMUNICATIONS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nature Communications
Nature Communications, Nature Publishing Group, 2019, 10 (1), ⟨10.1038/s41467-019-10910-w⟩
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Nature Communications, 2019, 10 (1), ⟨10.1038/s41467-019-10910-w⟩
Nature Communications, 10. NATURE PUBLISHING GROUP
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: Male, [SDV.GEN] Life Sciences [q-bio]/Genetics, Ion channels in the nervous system, Cohort Studies, fluids and secretions, Loss of Function Mutation, Receptors, AMPA, AMPA receptor, lcsh:Science, Child, reproductive and urinary physiology, AMPA receptor, GluA2, neurodevelopmental disorders, autism spectrum disorder, glutamatergic synaptic transmission, GRIA2, neurodevelopmental disorders, Developmental disorders, Neurodevelopmental disorders, Brain, Magnetic Resonance Imaging, Settore MED/26 - NEUROLOGIA, GluA2, Child, Preschool, Female, Adult, Heterozygote, Adolescent, Science, autism spectrum disorder, Article, Young Adult, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, MESH: Intellectual Disability/genetics, Neurodevelopmental Disorders/genetics, Receptors AMPA/genetics, Intellectual Disability, mental disorders, Humans, Infant, Neurodevelopmental Disorders, Receptors, AMPA, GRIA2, Preschool, Ion channel in the nervous system, Developmental disorders, Synaptic development, NG sequencing, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, glutamatergic synaptic transmission, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.NEUR] Cognitive science/Neuroscience, NG sequencing, Synaptic development, Ion channel in the nervous system, Next-generation sequencing, lcsh:Q

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::022ec99bd5d7b4a4f2851b3102b472a6Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16420Test

المؤلفون: Yannis Duffourd, Chantal Missirian, Dominique P. Germain, Jacques Puechberty, Damien Sanlaville, Christine Coubes, Tiffany Busa, Laurent Villard, Jérémie Mortreux, Hélène Tevissen, Nicole Philip, Pierre Cacciagli, Vincent Gatinois, JM Pinard, Gwenaël Nadeau

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Raymond Poincaré [AP-HP], Service de Cytogénétique, Centre hospitalier de Valence, Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Clinique, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Montpellier, FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Université Bourgogne Franche-Comté [COMUE] (UBFC), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Service de neurologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Raymond Poincaré [AP-HP], Centre Hospitalier de Valence (CH DE VALENCE), Service de Cytogénétique (HFME), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), We thank the families for their cooperation. We also thank all the lab technicians involved in this research. Affymetrix microarrays were processed in the Microarray Core Facility of the Institute in Regenerative Medicine and Biotherapy, CHRU-INSERM-UM Montpellier, http://irmb.chu-montpellier.frTest., Villard, Laurent, Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, 2018, 26 (1), pp.143-148. ⟨10.1038/s41431-017-0018-x⟩
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (1), pp.143-148. ⟨10.1038/s41431-017-0018-x⟩

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, MESH: Intellectual Disability/genetics, medicine.medical_specialty, Microcephaly, DNA Copy Number Variations, [SDV]Life Sciences [q-bio], Genes, Recessive, [SDV.GEN] Life Sciences [q-bio]/Genetics, Brief Communication, MESH: Abnormalities, Multiple/genetics, 03 medical and health sciences, Cytogenetics, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Allele, Child, Gene, Genetics (clinical), [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, Medical genetics, Neurodevelopmental disorders, Syndrome, medicine.disease, Phenotype, 3. Good health, [SDV] Life Sciences [q-bio], 030104 developmental biology, Child, Preschool, Etiology, Intercellular Signaling Peptides and Proteins, Female, MESH: DNA Copy Number Variations, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Carrier Proteins, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccc4050887dd2c05681d859a76ad8896Test
https://hal-amu.archives-ouvertes.fr/hal-01668647/documentTest

المؤلفون: El Chehadeh, Salima, Kerstjens-Frederikse, Wilhelmina, Thevenon, Julien, Kuentz, Paul, Bruel, Ange-Line, Thauvin-Robinet, Christel, Bensignor, Candace, Dollfus, Hélène, Laugel, Vincent, Rivière, Jean-Baptiste, Duffourd, Yannis, Bonnet, Caroline, Robert, Matthieu, Isaiko, Rodica, Straub, Morgane, Creuzot-Garcher, Catherine, Calvas, Patrick, Chassaing, Nicolas, Loeys, Bart, Reyniers, Edwin, Vandeweyer, Geert, Kooy, Frank, Hančárová, Miroslava, Havlovicová, Marketa, Prchalová, Darina, Sedláček, Zdenek, Gilissen, Christian, Pfundt, Rolph, Wassink-Ruiter, Jolien, Faivre, Laurence

المساهمون: Service de Cardiologie (hôpital général, CHU Dijon), Hôpital général (CHU Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: Microcephaly, Verheij syndrome, PUF60, MESH: Adolescent, MESH: Child, MESH: Exome / genetics, MESH: Female, MESH: Heart Defects, Congenital / genetics, MESH: Frameshift Mutation, Congenital / physiopathology, MESH: High-Throughput Nucleotide Sequencing, MESH: Humans, MESH: Intellectual Disability / genetics, MESH: Intellectual Disability / physiopathology, MESH: Male, MESH: RNA Splicing / genetics, MESH: Phenotype, MESH: RNA Splicing Factors / genetics, Preschool, MESH: Repressor Proteins / genetics, MESH: Chromosome Deletion, MESH: Chromosomes, Human, Pair 8 / genetics, MESH: Dwarfism / genetics, MESH: Dwarfism / physiopathology, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27804958; hal-03271113; https://hal.science/hal-03271113Test; PUBMED: 27804958; PUBMEDCENTRAL: PMC5159768

الإتاحة: https://doi.org/10.1038/ejhg.2016.133Test
https://hal.science/hal-03271113Test

المؤلفون: Matthieu P. Robert, Salima El Chehadeh, Geert Vandeweyer, Candace Bensignor, Wilhelmina S. Kerstjens-Frederikse, Darina Prchalova, Hélène Dollfus, Jean-Baptiste Rivière, Christel Thauvin-Robinet, Paul Kuentz, Edwin Reyniers, Patrick Calvas, Caroline Bonnet, Marketa Havlovicova, Rodica Isaiko, Vincent Laugel, Nicolas Chassaing, Julien Thevenon, Christian Gilissen, Morgane Straub, Laurence Faivre, Yannis Duffourd, Miroslava Hancarova, Bart Loeys, R. Frank Kooy, Ange-Line Bruel, Rolph Pfundt, Catherine Creuzot-Garcher, Jolien S. Klein Wassink-Ruiter, Zdenek Sedlacek

المساهمون: FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Génétique des Anomalies du Développement ( GAD ), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne ( UB ), Service de pédiatrie (CHU de Dijon), Service d'Ophtalmologie (CHU de Dijon), Service de Cardiologie (hôpital général, CHU Dijon), Hôpital général (CHU Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Strasbourg, Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), FHU TRANSLAD (CHU de Dijon), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne (UB), Service de Cardiologie, Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: European Journal of Human Genetics, 25(1), 43-51. Nature Publishing Group
European Journal of Human Genetics, 25, 43-51
European journal of human genetics: EJHG
European journal of human genetics: EJHG, Nature, 2016, 25 (1), pp.43-51. 〈http://www.nature.com/ejhg/index.htmlTest〉. 〈10.1038/ejhg.2016.133〉
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (1), pp.43-51. ⟨10.1038/ejhg.2016.133⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 25 (1), pp.43-51. ⟨10.1038/ejhg.2016.133⟩
European journal of human genetics
European Journal of Human Genetics, 25, 1, pp. 43-51

مصطلحات موضوعية: 0301 basic medicine, Male, MESH: Heart Defects, Congenital / physiopathology, Microcephaly, Pathology, MESH: Heart Defects, Congenital / genetics, MESH: Exome / genetics, 030105 genetics & heredity, MESH: RNA Splicing / genetics, Microphthalmia, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, MESH: Child, Exome, MESH: RNA Splicing Factors / genetics, Child, Frameshift Mutation, MESH: High-Throughput Nucleotide Sequencing, Genetics (clinical), Exome sequencing, Coloboma, MESH: Frameshift Mutation, High-Throughput Nucleotide Sequencing, Microdeletion syndrome, Microcephaly, Verheij syndrome, PUF60, Chemistry, Phenotype, Child, Preschool, DISEASES, Medical genetics, Female, RNA Splicing Factors, medicine.symptom, Chromosome Deletion, Chromosomes, Human, Pair 8, MESH: Dwarfism / genetics, Heart Defects, Congenital, medicine.medical_specialty, GENES, Adolescent, RNA Splicing, MESH: Chromosome Deletion, Dwarfism, Biology, MESH: Phenotype, Short stature, Article, PUF60, 03 medical and health sciences, Internal medicine, Intellectual Disability, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, Genetics, medicine, Humans, Craniofacial, MESH: Adolescent, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MESH: Humans, MESH: Child, Preschool, medicine.disease, MESH: Repressor Proteins / genetics, MESH: Male, Repressor Proteins, 030104 developmental biology, Endocrinology, MESH: Chromosomes, Human, Pair 8 / genetics, MESH: Dwarfism / physiopathology, MESH: Intellectual Disability / physiopathology, Human medicine, MESH: Intellectual Disability / genetics, Verheij syndrome, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2be171334f26bc8f01ed43d594d5f8c5Test
https://research.rug.nl/en/publications/daa8a5f7-967c-43ac-87f6-c19664c6acccTest