SNV-InDel working group: Results and lessons learned from the analysis of 22,035 exomes and genomes from 6 European reference networks

Autor: Matalonga, Leslie, Paramonov, Ida, Steyaert, Wouter, Morsy, Heba, Danis, Daniel, Johanson, Lennart, Ratnaike, Thiloka, Vandrovcova, Jana, Boer, Elke De, Denommé-Pichon, Anne-Sophie, Cohen, Enzo, Fernandez, Marcos, Gao, Fei, Gilissen, Christian, Horvath, Rita, Johari, Mridul, Li, Shuang, Nelson, Isabelle, Paske, Iris B.A.W. Te, Piscia, Davide, Robinson, Peter, Savarese, Marco, Töpf, Ana, Trimouille, Aurélien, Velde, Joeri K. van Der, Vitobello, Antonio, Epicare, ERN, Genturis, ERN, Ithaca, ERN, Euro-NMD, ERN, Rita, ERN, RND, ERN, Hoischen, Alexander, Beltran, Sergi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3711::94f1bfae0f1d84ed504f6e694db37424
https://hal.science/hal-04086234

Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome

Autor: Aline Vitrac, Claire S. Leblond, Thomas Rolland, Freddy Cliquet, Alexandre Mathieu, Anna Maruani, Richard Delorme, Michael Schön, Andreas M. Grabrucker, Conny van Ravenswaaij-Arts, Katy Phelan, Anne-Claude Tabet, Thomas Bourgeron

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, 2023, 66 (5), pp.104732. ⟨10.1016/j.ejmg.2023.104732⟩
European journal of medical genetics, 66(5):104732. ELSEVIER SCIENCE BV

International audience; SHANK3-related Phelan-McDermid syndrome (PMS) is caused by a loss of the distal part of chromosome 22, including SHANK3, or by a pathological SHANK3 variant. There is an important genetic and phenotypic diversity among patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c520e4e6644ca23d1a26e1ae4c83543
https://doi.org/10.1016/j.ejmg.2023.104732

PACS2 pathogenic variant associated with malformation of cortical development and epilepsy.

Autor: Checri R; Pediatric Neurology Department, CRMR épilepsies rares, EpiCARE Member, AP-HP, Robert-Debré University Hospital, Paris, France., Dozières-Puyravel B; Pediatric Neurology Department, CRMR épilepsies rares, EpiCARE Member, AP-HP, Robert-Debré University Hospital, Paris, France., Elmaleh-Bergès M; Radiology Department, AP-HP, Robert-Debré University Hospital, Paris, France., Verloes A; Medical Genetics Department, ITHACA ERN Member, AP-HP, Robert-Debré University Hospital, Paris, France., Auvin S; Pediatric Neurology Department, CRMR épilepsies rares, EpiCARE Member, AP-HP, Robert-Debré University Hospital, Paris, France.; INSERM NeuroDiderot, Université Paris Cité, Paris, France.; Institut Universitaire de France (IUF), Paris, France.

Publikováno v: Epileptic disorders : international epilepsy journal with videotape [Epileptic Disord] 2024 Apr; Vol. 26 (2), pp. 215-218. Date of Electronic Publication: 2023 Dec 15.

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

Autor: Cordovado A; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France., Schaettin M; Department of Molecular Life Sciences, Neuroscience Center Zurich, University of Zurich, Zurich 8057, Switzerland., Jeanne M; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France., Panasenkava V; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France., Denommé-Pichon AS; Functional Unit in Innovative Genomic Diagnosis of Rare Diseases, FHU-TRANSLAD, Dijon-Bourgogne University Hospital, Dijon 21079, France.; UMR1231 GAD, INSERM - Bourgogne-Franche Comté University, Dijon 21000, France., Keren B; Genetics Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris 75651, France., Mignot C; Genetics Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris 75651, France., Doco-Fenzy M; University Hospital Reims, AMH2, Genetics Division, SFR CAP santé EA3801, Reims 51100, France., Rodan L; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012, USA., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012, USA., Jones JR; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Mitchell WG; Neurology Division, Keck School of Medicine, University of Southern California, Children's Hospital Los Angeles, CA 90027, USA., Ozmore JR; Dartmouth Hitchcock Medical Center, Lebanon, NH 03766, USA., Juliette K; Neurology Department, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA., Torti E; GeneDx, Gaithersburg, MD 20877, USA., Normand EA; GeneDx, Gaithersburg, MD 20877, USA., Granger L; Genetics Division, Department of Pediatric Development and Rehabilitation, Randall Children's Hospital, Portland, OR 97227, USA., Petersen AK; Genetics Division, Department of Pediatric Development and Rehabilitation, Randall Children's Hospital, Portland, OR 97227, USA., Au MG; Department of Genetics and Metabolism, University of Kentucky, Lexington, KY 40536, USA., Matheny JP; Department of Genetics and Metabolism, University of Kentucky, Lexington, KY 40536, USA., Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital, Providence, RI 02903, USA., Chambers MK; Division of Genetics, Rhode Island Hospital, Hasbro Children's Hospital, Providence, RI 02903, USA., Fernández-Ramos JA; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba 14004, Spain., López-Laso E; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba 14004, Spain., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Zollino M; Università Cattolica Sacro Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Roma 00168, Italy.; Fondazione Policlinico A. Gemelli IRCCS, U. O. C. Genetica Medica, Roma 00168, Italy., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples 80078, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples 80138, Italy., Marangi G; Università Cattolica Sacro Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Roma 00168, Italy.; Fondazione Policlinico A. Gemelli IRCCS, U. O. C. Genetica Medica, Roma 00168, Italy., Mei D; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy., Pisano T; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy., Louie RJ; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA., Childers A; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA., Everman DB; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA., Isidor B; Medical Genetics Service, Clinical Genetics Unit, University Hospital of Nantes, Hôtel Dieu, Nantes 44093, France., Audebert-Bellanger S; Clinical Genetics Service, University Hospital of Brest, Morvan Hospital, Brest 29609, France., Odent S; Clinical Genetics Service, University Hospital, Genetic and Development Institute of Rennes IGDR, UMR 6290 University of Rennes, ITHACA ERN, Rennes 35203, France., Bonneau D; Department of Medical Genetics, University Hospital of Angers and Mitovasc INSERM 1083, CNRS 6015, Angers 49000, France., Gilbert-Dussardier B; Medical Genetics, University Hospital, La Milétrie, BP 577, Poitiers 86021, France., Redon R; INSERM, CNRS, UNIV Nantes, Thorax Institute, Nantes 44007, France., Bézieau S; INSERM, CNRS, UNIV Nantes, Thorax Institute, Nantes 44007, France.; Medical Genetics Service, University Hospital of Nantes, Nantes 44093, France., Laumonnier F; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France., Stoeckli ET; Department of Molecular Life Sciences, Neuroscience Center Zurich, University of Zurich, Zurich 8057, Switzerland., Toutain A; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France., Vuillaume ML; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2022 Sep 29; Vol. 31 (19), pp. 3325-3340.