Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

Autor: Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein Tobias B Haack U, Heinritz W, Matzker E, Alhaddad B, Jamra RA, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R, Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB

Publikováno v: American journal of human genetics [Am J Hum Genet] 2023 Mar 02; Vol. 110 (3), pp. 548.

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

Autor: Hammarsjö A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden. anna.hammarsjo@ki.se., Pettersson M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and Mt. Sinai Hospital, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada., Handa A; Department of Radiology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA., Anderlid BM; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Bartocci M; Department of Women's and Children's Health, Neonatology, Karolinska Institutet, Stockholm, Sweden., Basel D; Division of Medical Genetics, Medical College of Wisconsin, Milwaukee, WI, USA., Batkovskyte D; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden., Beleza-Meireles A; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Conner P; Department of Women's and Children's Health, Karolinska Institutet and Center for Fetal Medicine, Karolinska University Hospital, Stockholm, Sweden., Eisfeldt J; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Chung BH; Department of Pediatrics and Adolescent Medicine, The University of Hong Kong and Shenzhen Hospital, Futian District, Shenzhen, China.; Department of Pediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China., Horemuzova E; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Women's and Children's Health, Karolinska Institutet and Paediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, Sweden., Hyodo H; Department of Obstetrics and Gynecology, Tokyo Metropolitan Bokutoh Hospital, Kotobashi, Sumida-ku, Tokyo, Japan., Korņejeva L; Department of Prenatal Diagnostics, Riga Maternity Hospital, Riga, Latvia., Lagerstedt-Robinson K; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Lin AE; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA., Magnusson M; Department of Molecular Medicine and Surgery, Karolinska Institutet, and Centre for Inherited Metabolic Diseases, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, KTH Royal Institute of Technology, Stockholm, Sweden., Moosa S; Medical Genetics, Tygerberg Hospital and Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, South Africa., Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Nilsson D; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Ohashi H; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan., Ohashi-Fukuda N; Department of Obstetrics and Gynecology, Tokyo Metropolitan Bokutoh Hospital, Kotobashi, Sumida-ku, Tokyo, Japan., Stranneheim H; Department of Molecular Medicine and Surgery, Karolinska Institutet, and Centre for Inherited Metabolic Diseases, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.; Department of Microbiology, Tumor and Cell biology, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden., Taylan F; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Traberg R; Department of Genetics and Molecular Medicine, Lithuanian University of Health Sciences, Kaunas, Lithuania., Voss U; Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden., Wirta V; Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, KTH Royal Institute of Technology, Stockholm, Sweden.; Department of Microbiology, Tumor and Cell biology, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden., Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Nishimura G; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan., Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Grigelioniene G; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.

Publikováno v: Journal of human genetics [J Hum Genet] 2021 Oct; Vol. 66 (10), pp. 995-1008. Date of Electronic Publication: 2021 Apr 20.

Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.

Autor: Mollin M; Pôle de Biologie, Centre Hospitalier Universitaire Grenoble Alpes, CGD Diagnosis and Research Centre (CDiReC), Grenoble, France., Beaumel S; Pôle de Biologie, Centre Hospitalier Universitaire Grenoble Alpes, CGD Diagnosis and Research Centre (CDiReC), Grenoble, France., Vigne B; Pôle de Biologie, Centre Hospitalier Universitaire Grenoble Alpes, CGD Diagnosis and Research Centre (CDiReC), Grenoble, France., Brault J; Pôle de Biologie, Centre Hospitalier Universitaire Grenoble Alpes, CGD Diagnosis and Research Centre (CDiReC), Grenoble, France., Roux-Buisson N; Pôle de Biologie, Centre Hospitalier Universitaire Grenoble Alpes, Laboratoire de Biochimie et Génétique Moléculaire, Grenoble, France.; Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm U1216, Grenoble, France., Rendu J; Pôle de Biologie, Centre Hospitalier Universitaire Grenoble Alpes, Laboratoire de Biochimie et Génétique Moléculaire, Grenoble, France.; Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm U1216, Grenoble, France., Barlogis V; Service de Pédiatrie et Hématologie Pédiatrique, Centre Hospitalier Universitaire La Timone, Marseille, France., Catho G; Institut d'Hématologie et d'Oncologie Pédiatrique, Hospices Civiles de Lyon, Lyon, France., Dumeril C; Service de Pédiatrie, Centre Hospitalier Annecy Genevois, Pringy, France., Fouyssac F; Département d'Onco-hématologie Pédiatrique, Centre Hospitalier Universitaire de Nancy, Vandoeuvre-lès-Nancy, France., Monnier D; Laboratoire d'Immunologie Cellulaire, Centre Hospitalier Universitaire Pontchaillou, Rennes, France., Gandemer V; Service d'Onco-hématologie Pédiatrique, Centre Hospitalier Universitaire de Rennes, Rennes, France., Revest M; Service des Maladies Infectieuses et Réanimation Médicale, Centre Hospitalier Universitaire de Rennes, Rennes, France., Brion JP; Pôle Médecine Aigue et Communautaire, Service d'Infectiologie, Centre Hospitalier Universitaire Grenoble Alpes, Grenoble, France., Bost-Bru C; Département de Pédiatrie, Centre Hospitalier Universitaire Grenoble Alpes, Grenoble, France., Jeziorski E; Département Urgences Post-urgences, CHU Montpellier, Pathogenesis and Control of Chronic Infections, INSERM, Université de Montpellier, Montpellier, France., Eitenschenck L; Service de Pédiatrie, Centre Hospitalier Annecy Genevois, Pringy, France., Jarrasse C; Service de Pédiatrie, Centre Hospitalier Annecy Genevois, Pringy, France., Drillon Haus S; Service de Pédiatrie et Onco-hématologie, Centre Hospitalier Universitaire de Strasbourg, Hôpital de Hautepierre, Strasbourg, France., Houachée-Chardin M; Institut d'Hématologie et d'Oncologie Pédiatrique, Hospices Civiles de Lyon, Lyon, France., Hancart M; Département Urgences Post-urgences, CHU Montpellier, Pathogenesis and Control of Chronic Infections, INSERM, Université de Montpellier, Montpellier, France., Michel G; Service de Pédiatrie et Hématologie Pédiatrique, Centre Hospitalier Universitaire La Timone, Marseille, France., Bertrand Y; Institut d'Hématologie et d'Oncologie Pédiatrique, Hospices Civiles de Lyon, Lyon, France., Plantaz D; Département de Pédiatrie, Centre Hospitalier Universitaire Grenoble Alpes, Grenoble, France., Kelecic J; Klinicki Bolnicki Centar Zagreb, Zagreb, Croatia., Traberg R; Hospital of Lithuanian University of Health Sciences, Kauno Klinikos, Kaunas, Lithuania., Kainulainen L; Department of Pediatrics, University Hospital of Turku, Turku, Finland.; Faculty of Medicine Turku, University of Turku, Turku, Finland., Fauré J; Pôle de Biologie, Centre Hospitalier Universitaire Grenoble Alpes, Laboratoire de Biochimie et Génétique Moléculaire, Grenoble, France.; Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm U1216, Grenoble, France., Fieschi F; Univ. Grenoble Alpes, CEA, CNRS, IBS, F-38044, Grenoble, France., Stasia MJ; Pôle de Biologie, Centre Hospitalier Universitaire Grenoble Alpes, CGD Diagnosis and Research Centre (CDiReC), Grenoble, France.; Univ. Grenoble Alpes, CEA, CNRS, IBS, F-38044, Grenoble, France.

Publikováno v: Clinical and experimental immunology [Clin Exp Immunol] 2021 Feb; Vol. 203 (2), pp. 247-266. Date of Electronic Publication: 2020 Oct 12.

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.

Autor: Smith M; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK., Alexander E; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK., Marcinkute R; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK.; Department of Human and Medical Genetics, Institute of Biomedical Sciences of the Faculty of Medicine of Vilnius University, M. K. Čiurlionio g. 21/27, LT-03101, Vilnius, Lithuania., Dan D; Romanian National Alliance for Rare Diseases RONARD, 29 Avram Iancu, etaj III, 450143, Zalau, Romania., Rawson M; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Oxford Road, Manchester, M13 9PL, UK., Gavin J; European Commission, DG Health and Food Safety, Information Systems, Rue Breydel 4 / Breydelstraat 4, Building B232 - 1049, Brussels, Belgium., Mina H; Open Applications Consulting Ltd., Avoca House, 191 Parnell St, Rotunda, Dublin 1, Ireland., Hennessy C; Open Applications Consulting Ltd., Avoca House, 191 Parnell St, Rotunda, Dublin 1, Ireland., Riccardi F; Medical Genetics Department, La Timone Hospital, Marseilles Public University Hospital, 278 Rue Saint-Pierre, 13005, Marseille, France., Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Havlovicova M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, V Úvalu 84, 150 06, Prague 5, Czech Republic., Cassina M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Via Giustiniani, 3 - 35128, Padova, Italy., Emandi AC; Discipline of Genetics, Victor Babeș University of Medicine and Pharmacy, Piața Eftimie Murgu 2, 300041, Timișoara, Romania.; 'Louis Turcanu' Clinical Emergency Hospital for Children, Strada Doctor Iosif Nemoianu 2, 300011, Timișoara, Romania., Fradin M; Department of Medical Genetics, CHU de Rennes, 2 rue Henri Le Guilloux, 35033, Rennes cedex 9, France., Gompertz L; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK., Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine and Department of Clinical Genetics, Karolinska University Hospital, 171 77, Stockholm, Sweden., Traberg R; Department of Genetics and Molecular Medicine, Hospital of Lithuanian University of Health Sciences Kauno klinikos, Eivenių Str. 2, LT-50161, Kaunas, Lithuania., Rossi M; Department of Medical Genetics, CHU de Lyon, 162 Avenue Lacassagne, 69003, Lyon, France., Trimouille A; Genetic Department, Hospices Civils de Lyon and CRNL, GENDEV Team, INSERM U1028, U1028 / UMR 5292, Bd Pinel - 69677, Bron Cedex, France., Sowmyalakshmi R; Department of Genetics, AP-HP Robert-Debré University Hospital, Bd Sérurier, 75019, Paris, France., Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Renieri A; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Policlinico Santa Maria alle Scotte, Viale Mario Bracci, 16, 53100, Siena, Italy., Faivre L; Department of Medical Genetics and Centre of Reference for Developmental Anomalies and Malformative syndromes, CHU de Dijon, 14 Rue Paul Gaffarel, 21000, Dijon, France., Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Oxford Road, Manchester, M13 9PL, UK., Verloes A; Department of Genetics, AP-HP Robert-Debré University Hospital, Bd Sérurier, 75019, Paris, France.; Université Paris Diderot, 5 Rue Thomas Mann, 75013, Paris, France., Clayton-Smith J; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Oxford Road, Manchester, M13 9PL, UK., Douzgou S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK. sofia.douzgou@mft.nhs.uk.; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Oxford Road, Manchester, M13 9PL, UK. sofia.douzgou@mft.nhs.uk.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Apr 25; Vol. 15 (1), pp. 103. Date of Electronic Publication: 2020 Apr 25.

Successful preimplantation genetic testing for fibrodysplasia ossificans progressiva: a case report.

Autor: Murugesu, Sughashini^1,2 (AUTHOR) sughashini.murugesu@nhs.net, Jones, Benjamin P.^1,2 (AUTHOR), Serhal, Paul³ (AUTHOR), Ben-Nagi, Jara³ (AUTHOR)

Publikováno v: Journal of Medical Case Reports. 4/26/2024, Vol. 18, p1-5. 5p.