[(S)un (M)ay (A)rise on SMA : the hope of a region without spinal muscular atrophy]

Autor: Boemer, F, Caberg, JH, Dideberg, V, Beckers, P, Marie, S, Marcelis, L, Bours, V, Dangouloff, T, Servais, L

Publikováno v: Revue medicale de Liege, Vol. 74, no.9, p. 461-464 (2019)

The treatment of spinal muscular atrophy (SMA) has considerably changed over the last 3 years. Several approaches that aim to increase the deficient SMN protein have demonstrated an efficacy that is inversely correlated with disease duration. In this

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b0d2afdf1038f48eefb2b9931358025f
https://pubmed.ncbi.nlm.nih.gov/31486315

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium

Autor: Jacques Lombet, Joseph Dewulf, Arabelle Willems, Laura Blasco-Pérez, Mickaël Hiligsmann, Bénédicte Mast, Rudolf van Olden, Samantha di Fiore, Sofie Huybrechts, Lucia Lopez-Granados, Jean-Hubert Caberg, Tatiana Aparecida Pereira, Nicolas Deconinck, Tamara Dangouloff, Sarvnaz Shalchian-Tehran, Vincent Bours, Sandrine Marie, Véronique van Assche, Eduardo F. Tizzano, François Boemer, Vinciane Dideberg, Laurent Servais, Pablo Beckers, A. Daron, Lionel Marcelis

Publikováno v: Scientific Reports, 11(1):19922. Nature Publishing Group
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Scientific reports, 11 (1
Scientia
Scientific Reports
Scientific reports, Vol. 11, no.1, p. 19922 (2021)

Three new therapies for spinal muscular atrophy (SMA) have been approved by the United States Food and Drug Administration and the European Medicines Agency since 2016. Although these new therapies improve the quality of life of patients who are symp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38d07d46f04cc1b6dd536260a4b351ba
https://cris.maastrichtuniversity.nl/en/publications/fac4ef37-2abb-4f2e-8fae-95295fa09308

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Autor: Jensen M; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Smolen C; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Tyryshkina A; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Pizzo L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Banerjee D; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Oetjens M; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA., Shimelis H; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA., Taylor CM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA., Pounraja VK; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Song H; Department of Statistics, Pennsylvania State University, University Park, PA 16802, USA., Rohan L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Huber E; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., El Khattabi L; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., van de Laar I; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands., Tadros R; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands., Bezzina C; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands., Kammeraad J; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands., Prontera P; Medical Genetics Unit, Hospital Santa Maria della Misericordia, Perugia, Italy., Caberg JH; Centre Hospitalier Universitaire de Liège. Domaine Universitaire du Sart Tilman, Liège, Belgium., Fraser H; 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, Central Manchester University Hospitals, NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, UK., Van Dijck A; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Schwartz C; Greenwood Genetic Center, Greenwood, SC 29646, USA., Voorhoeve E; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Callier P; Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France., Mosca-Boidron AL; Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France., Marle N; Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France., Lefebvre M; Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France., Pope K; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia., Snell P; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia., Boys A; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia., Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Ashfaq M; Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center, Houston, TX 77030, USA., McCready E; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada., Nowacyzk M; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada., Castiglia L; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy., Galesi O; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy., Avola E; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy., Mattina T; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy., Fichera M; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Section of Clinical Biochemistry and Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania School of Medicine, Catania, Italy., Bruccheri MG; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy., Mandarà GML; Medical Genetics, ASP Ragusa, Ragusa, Italy., Mari F; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Privitera F; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Longo I; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Curró A; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Renieri A; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Keren B; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75019 Paris, France., Charles P; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75019 Paris, France., Cuinat S; CHU Nantes, Medical Genetics Department, Nantes, France., Nizon M; CHU Nantes, Medical Genetics Department, Nantes, France., Pichon O; CHU Nantes, Medical Genetics Department, Nantes, France., Bénéteau C; CHU Nantes, Medical Genetics Department, Nantes, France., Stoeva R; CHU Nantes, Medical Genetics Department, Nantes, France., Martin-Coignard D; Service de Cytogenetique, CHU de Le Mans, Le Mans, France., Blesson S; Department of Genetics, Bretonneau University Hospital, Tours, France., Le Caignec C; CHU Toulouse, Department of Medical Genetics, Toulouse, France.; Toulouse Neuro Imaging, Center, Inserm, UPS, Université de Toulouse, Toulouse, France., Mercier S; Department of Genetics, Bretonneau University Hospital, Tours, France., Vincent M; Department of Genetics, Bretonneau University Hospital, Tours, France., Martin C; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA., Mannik K; Institute of Genomics, University of Tartu, Estonia.; Health2030 Genome Center, Fondation Campus Biotech, Geneva, Switzerland., Reymond A; Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, Switzerland., Faivre L; Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France.; Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France., Sistermans E; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Kooy RF; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Amor DJ; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Romano C; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Section of Clinical Biochemistry and Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania School of Medicine, Catania, Italy., Andrieux J; Institut de Genetique Medicale, Hopital Jeanne de Flandre, CHRU de Lille, Lille, France., Girirajan S; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.; Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Aug 28. Date of Electronic Publication: 2024 Aug 28.

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

Autor: Smolen C; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Jensen M; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Dyer L; GeneDx, Gaithersburg, MD 20877, USA., Pizzo L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Tyryshkina A; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Neuroscience Graduate program, Pennsylvania State University, University Park, PA 16802., Banerjee D; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Rohan L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Huber E; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., El Khattabi L; Assistance Publique-Hôpitaux de Paris, Department of Medical Genetics, Armand Trousseau and Pitié-Salpêtrière Hospitals, Paris, France., Prontera P; Medical Genetics Unit, Hospital 'Santa Maria della Misericordia', Perugia, Italy., Caberg JH; Centre Hospitalier Universitaire de Liège. Domaine Universitaire du Sart Tilman, Liège, Belgium., Van Dijck A; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Schwartz C; Greenwood Genetic Center, Greenwood, SC 29646, USA., Faivre L; Centre de Genetique et Cenre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France.; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France., Callier P; Centre de Genetique et Cenre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France.; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France., Mosca-Boidron AL; Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France., Lefebvre M; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France., Pope K; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Snell P; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Lockhart PJ; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Bruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, Australia., Castiglia L; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy., Galesi O; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy., Avola E; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy., Mattina T; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy., Fichera M; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy., Mandarà GML; Medical Genetics, ASP Ragusa, Ragusa, Italy., Bruccheri MG; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy., Pichon O; CHU Nantes, Department of Medical Genetics, Nantes, France., Le Caignec C; CHU Toulouse, Department of Medical Genetics, Toulouse, France.; ToNIC, Toulouse Neuro Imaging, Center, Inserm, UPS, Université de Toulouse, Toulouse, France., Stoeva R; Service de Cytogenetique, CHU de Le Mans, Le Mans, France., Cuinat S; CHU Nantes, Department of Medical Genetics, Nantes, France., Mercier S; CHU Nantes, Department of Medical Genetics, Nantes, France., Bénéteau C; CHU Nantes, Department of Medical Genetics, Nantes, France., Blesson S; Department of Genetics, Bretonneau University Hospital, Tours, France., Nordsletten A; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Martin-Coignard D; Department of Genetics, Bretonneau University Hospital, Tours, France., Sistermans E; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Kooy RF; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Amor DJ; Bruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, Australia., Romano C; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy.; Medical Genetics, ASP Ragusa, Ragusa, Italy., Isidor B; CHU Nantes, Department of Medical Genetics, Nantes, France., Juusola J; GeneDx, Gaithersburg, MD 20877, USA., Girirajan S; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.; Neuroscience Graduate program, Pennsylvania State University, University Park, PA 16802.; Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2023 May 26. Date of Electronic Publication: 2023 May 26.

Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.

Autor: Jouret G; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Heide S; Service de Génétique Cytogénétique, Embryologie Hôpital Pitié-Salpétrière, France., Sorlin A; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg.; Centre de Génétique, CHU de Dijon, Dijon, France.; Génétique des Anomalies du Développement, Inserm 1231 GAD, Université de Bourgogne, France., Faivre L; Centre de Génétique, CHU de Dijon, Dijon, France.; Génétique des Anomalies du Développement, Inserm 1231 GAD, Université de Bourgogne, France., Chantot-Bastaraud S; Service de Génétique Et Embryologie Médicales, CHU Paris Est, Hôpital d'Enfants Armand-Trousseau, France., Beneteau C; Service de Génétique Médicale, CHU de Nantes, Institut de Biologie, France., Denis-Musquer M; Service d'Anatomie et Cytologie Pathologiques, Hôpital-Dieu, Nantes, France., Turnpenny PD; Clinical Genetics Department, Royal Devon and Exeter Hospital, UK., Coutton C; Service de Génétique Médicale, Grenoble, France., Vieville G; Service de Génétique Médicale, Grenoble, France., Thevenon J; Service de Génétique Médicale, Grenoble, France., Larson A; Clinical Genetics Department, Children's Hospital Colorado, Littleton, Colorado, USA., Petit F; Clinique de Génétique 'Guy Fontaine', CHU de Lille, France., Boudry E; Institut de Génétique Médicale, CHU de Lille, France., Smol T; Institut de Génétique Médicale, CHU de Lille, France., Delobel B; Centre de Génétique Chromosomique, GH de l'Institut, Catholique de Lille, France., Duban-Bedu B; Centre de Génétique Chromosomique, GH de l'Institut, Catholique de Lille, France., Fallerini C; Medical Genetics Department, University of Siena, Siena, Italy., Mari F; Medical Genetics Department, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Lo Rizzo C; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Renieri A; Medical Genetics Department, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Caberg JH; Centre de Génétique Humaine, CHU de Liège, Liège, Belgium., Denommé-Pichon AS; Centre de Génétique, CHU de Dijon, Dijon, France.; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France., Tran Mau-Them F; Centre de Génétique, CHU de Dijon, Dijon, France.; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France., Maystadt I; Centre de Genetique Humaine, Institut de Pathologie et de Genetique, Charleroi, Belgium., Courtin T; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France., Keren B; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France., Mouthon L; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France., Charles P; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France., Cuinat S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, France., Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, France., Theis P; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Müller C; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Kulisic M; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Türkmen S; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Stieber D; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Bourgeois D; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Scalais E; Pediatric Neurology Unit, Pediatric Department, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg., Klink B; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg.

Publikováno v: Clinical genetics [Clin Genet] 2022 Aug; Vol. 102 (2), pp. 117-122. Date of Electronic Publication: 2022 Apr 25.