Zobrazeno 1 - 10 of 81 pro vyhledávání: '"MH Willemsen"'
4
Akademický článek
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
Autor: Cuccurullo C; Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University of Naples, Naples, Italy.; Neurology and Stroke Unit, Ospedale del Mare Hospital, Naples, Italy., Cerulli Irelli E; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy., Ugga L; Department of Advanced Biomedical Sciences, University Federico II, Naples, Italy., Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Medical Genetic Unit, Istituti di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy., D'Amico A; Department of Radiology, 'Tortorella' private hospital, Salerno, Italy., Cabet S; Pediatric and Fetal Imaging, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France., Lesca G; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Bilo L; Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University of Naples, Naples, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Medical Genetic Unit, Istituti di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy., Iliescu C; Department of Clinical Neurosciences, 'Carol Davila' University of Medicine and Pharmacy, Bucharest, Romania., Barca D; Department of Pediatric Neurology, Expertise Center for Rare Diseases in Pediatric Neurology, member of the EpiCARE European Reference Network, 'Prof. Dr. Alex. Obregia' Clinical Hospital, Bucharest, Romania., Fung F; Department of Pediatrics and Neurology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA., Helbig K; Department of Pediatrics and Neurology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA., Ortiz-Gonzalez X; Department of Pediatrics and Neurology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA., Schelhaas HJ; Department of Neurology, Epilepsy Center Kempenhaeghe, Heeze, the Netherlands., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van der Linden I; Department of Neurology, Epilepsy Center Kempenhaeghe, Heeze, the Netherlands., Canafoglia L; Integrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Courage C; Folkhälsan Research Center, Helsinki, Finland.; Department of Biomedical and Clinical Science, University of Milan, Milan, Italy., Gommaraschi S; Department of Biomedical and Clinical Science, University of Milan, Milan, Italy., Gonzalez-Alegre P; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, Philadelphia, USA., Bardakjian T; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, Philadelphia, USA., Syrbe S; Division of Paediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Schuler E; Division of Paediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Lemke JR; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Vari S; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genoa, Italy., Roende G; Department of Pediatrics and Adolescent Medicine, University Hospital Rigshopitalet, Copenhagen, Denmark., Bak M; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Huq M; Department of Pediatrics, Wayne State University, Detroit, Michigan, USA., Powis Z; Ambry Genetics, Department of Emerging Genetic Medicine, CGC 15 Argonaut, Aliso Viejo, California, USA., Johannesen KM; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, New York, USA., Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, New York, USA., Zupanc ML; Children's Health of Orange County, Orange, California, USA., Zadeh N; Genetics Center and Division of Medical Genetics, Children's Hospital of Orange County, Orange, California, USA., Cohen J; Department of Neurology, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Naidu S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Saneto R; Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA., Thies J; Seattle Children's Research Institute, University of Washington, Seattle, Washington, USA., Licchetta L; IRCCS, Istituto Delle Scienze Neurologiche di Bologna, full member of the EpiCARE European Reference Network, Bologna, Italy., Tinuper P; IRCCS, Istituto Delle Scienze Neurologiche di Bologna, full member of the EpiCARE European Reference Network, Bologna, Italy., Bisulli F; IRCCS, Istituto Delle Scienze Neurologiche di Bologna, full member of the EpiCARE European Reference Network, Bologna, Italy., Minardi R; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Villeneuve N; Pediatric Neurology Department, Timone Children Hospital, Marseille, France., Molinari F; Biolab, PolitoBIOMedLab, Department of Electronics and Telecommunications, Politecnico di Torino, Turin, Italy., Salimi Dafsari H; Department of Pediatrics, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Max Planck Institute for Biology of Ageing, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases, University of Cologne, Cologne, Germany.; Department of Paediatric Neurology, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College London, London, UK., Moller B; Department of Pediatrics, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Le Roux M; Department of Pediatric Neurology and Neurosurgery, CHU, Angers, France., Houdayer C; Service de Génétique Médicale, Université d'Angers, CHU d'Angers, Inserm, CNRS, MITOVASC, SFR ICAT, Angers, France., Vecchi M; University of Padua, Padua, Italy., Mammi I; Medical Genetics Unit, Mirano Hospital, Venice, Italy., Fiorini E; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy.; Center for Research on Epilepsy in Pediatric Age, University Hospital of Verona, Verona, Italy., Proietti J; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy.; Center for Research on Epilepsy in Pediatric Age, University Hospital of Verona, Verona, Italy., Ferri S; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy., Cantalupo G; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy.; Center for Research on Epilepsy in Pediatric Age, University Hospital of Verona, Verona, Italy.; Innovation Biomedicine Section, Department of Engineering for Innovation Medicine, University of Verona, Verona, Italy., Battaglia DI; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Università Cattolica del Sacro Cuore, Rome, Italy., Gambardella ML; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Contaldo I; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Brogna C; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Neuropsychiatric Unit, ASL Avellino, Avellino, Italy., Trivisano M; Neurology, Epilepsy, and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, full member of the EpiCARE European Reference Network, Rome, Italy., De Dominicis A; Child Neurology Unit, Buzzi Children's Hospital, Milan, Italy., Bova SM; Child Neurology Unit, Buzzi Children's Hospital, Milan, Italy., Gardella E; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genoa, Italy., Coppola A; Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University of Naples, Naples, Italy.
Publikováno v: Epilepsia [Epilepsia] 2024 Sep; Vol. 65 (9), pp. 2728-2750. Date of Electronic Publication: 2024 Jul 02.
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5
Akademický článek
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Autor: Rots D; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Human Genetics Radboudumc, Donders Center for Medical Neuroscience, Nijmegen, The Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia., Rooney K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Pfundt R; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Marcelis C; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Willemsen MH; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., van Hagen JM; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Zwijnenburg P; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Alders M; Department of Human Genetics, Amsterdam Reproduction & development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Reimand T; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Fjodorova O; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Berland S; Department of Mental Health, Møre og Romsdal Hospital Trust, Ålesund, Norway., Liahjell EB; Department of Mental Health, Møre og Romsdal Hospital Trust, Ålesund, Norway., Bojovic O; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Kriek M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Bonati MT; Department of Genetics, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy., Brunner HG; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Vissers LELM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Human Genetics Radboudumc, Donders Center for Medical Neuroscience, Nijmegen, The Netherlands., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Kleefstra T; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Human Genetics Radboudumc, Donders Center for Medical Neuroscience, Nijmegen, The Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Publikováno v: Clinical genetics [Clin Genet] 2024 Jun; Vol. 105 (6), pp. 655-660. Date of Electronic Publication: 2024 Feb 21.
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6
Akademický článek
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.
Autor: Harris EL; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Roy V; Département de Biochimie et Génomique Fonctionnelle, PROTÉO et Institut de Pharmacologie de Sherbrooke. University of Sherbrooke, Sherbrooke, QC, Canada., Montagne M; Département de Biochimie et Génomique Fonctionnelle, PROTÉO et Institut de Pharmacologie de Sherbrooke. University of Sherbrooke, Sherbrooke, QC, Canada., Rose AMS; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Livesey H; Leeds Teaching Hospitals NHS Trust, Leeds, UK; All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Cardiff, UK., Reijnders MRF; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Hobson E; Leeds Teaching Hospitals NHS Trust, Leeds, UK., Sansbury FH; All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Cardiff, UK., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Warren D; Leeds Teaching Hospitals NHS Trust, Leeds, UK., Long V; Leeds Teaching Hospitals NHS Trust, Leeds, UK., Carr IM; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Sheridan EG; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK; Leeds Teaching Hospitals NHS Trust, Leeds, UK., Firth HV; Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK; Wellcome Sanger Institute, Hinxton, Cambridge, UK., Lavigne P; Département de Biochimie et Génomique Fonctionnelle, PROTÉO et Institut de Pharmacologie de Sherbrooke. University of Sherbrooke, Sherbrooke, QC, Canada. Electronic address: pierre.lavigne@usherbrooke.ca., Poulter JA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK. Electronic address: j.a.poulter@leeds.ac.uk.
Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Jan 04; Vol. 111 (1), pp. 119-132. Date of Electronic Publication: 2023 Dec 22.
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7
Akademický článek
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Autor: Buijsse N; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Jansen FE; Department of Pediatric Neurology, Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Kempen MJA; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Zeidler S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Scarano E; Department of Pediatrics, St. Orsola-Malpighi Hospital, Bologna, Italy., Monticone S; Department of Pediatrics, Azienda Ospedaliero Universitaria Maggiore della Carità, Novara, Italy., Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Low KJ; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS trust, University of Bristol, Bristol, UK., Bayat A; Department for Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology and Chalfont Centre for Epilepsy, Chalfont St Peter, UK., Samanta D; Child Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Lesca G; Department of Genetics, University Hospitals of Lyon, Lyon, France., de Jong D; Department of Neurology, Academic Center for Epileptology Kempenhaeghe/MUMC+, Heeze, The Netherlands., Giltay JC; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Verbeek NE; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Brilstra EH; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Vlaskamp DRM; Department of Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.
Publikováno v: Epilepsia open [Epilepsia Open] 2023 Dec; Vol. 8 (4), pp. 1300-1313. Date of Electronic Publication: 2023 Aug 18.
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8
Akademický článek
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Autor: Teunissen MWA; Department of Neurology, Maastricht University Medical Center, Maastricht, HX 6229, The Netherlands.; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze 5591 VE, The Netherlands., Lewerissa E; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands., van Hugte EJH; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands., Wang S; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Koolen DA; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Marcelis CLM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Brilstra E; Department of Human Genetics, University Medical Center Utrecht, Utrecht, CX 3584, The Netherlands., Howe JL; The Centre for Applied Genomics and Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Scherer SW; The Centre for Applied Genomics and Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3H7, Canada., Le Guillou X; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers 86000, France., Bilan F; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers 86000, France.; Laboratory of Experimental and Clinical Neurosciences University of Poitiers, INSERM U1084, Poitiers 86000, France., Primiano M; Department of Clinical Genetics, Morgan Stanley Children's Hospital of New York-Presbytarian, New York, NY, 10032, USA., Roohi J; Department of Clinical Genetics, Morgan Stanley Children's Hospital of New York-Presbytarian, New York, NY, 10032, USA.; Clinical Genetics, Kaiser Permanente Mid-Atlantic Permanente Medical Group, Rockville, MD 20852, USA., Piton A; Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace (IGMA), Hôspitaux Universitaire de Strasbourg, Strasbourg, BP 426 67091, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France., de Saint Martin A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; Department of Pediatric Neurology, Strasbourg University Hospital, Hôspital de Hautepierre, Strasbourg, BP 426 67091, France., Baer S; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; Department of Pediatric Neurology, Strasbourg University Hospital, Hôspital de Hautepierre, Strasbourg, BP 426 67091, France., Seiffert S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tuebingen, 72076, Germany., Platzer K; Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany., Jamra RA; Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany., Syrbe S; Division of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany., Doering JH; Division of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany., Lakhani S; Department of neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, 10065, USA., Nangia S; Department of Pediatrics, Division of Child Neurology, New York Presbyterian Hospital-Weill Cornell Medical Center, New York, NY, 10032, USA., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Vermeulen RJ; Department of Neurology, Maastricht University Medical Center, Maastricht, HX 6229, The Netherlands., Rouhl RPW; Department of Neurology, Maastricht University Medical Center, Maastricht, HX 6229, The Netherlands.; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze 5591 VE, The Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, MD 6200, the Netherlands., Brunner HG; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze 5591 VE, The Netherlands.; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, MD 6200, the Netherlands.; Department of Clinical Genetics and GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, MD 6299, the Netherlands., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Nadif Kasri N; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands.
Publikováno v: Human molecular genetics [Hum Mol Genet] 2023 Jul 04; Vol. 32 (14), pp. 2373-2385.
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9
Akademický článek
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Autor: Gehin C; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Lone MA; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland., Lee W; Department of Genetics and Development and.; Department Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA., Capolupo L; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Ho S; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Adeyemi AM; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada., Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands., Stegmann AP; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, Netherlands., López-Martín E; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Bermejo-Sánchez E; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Martínez-Delgado B; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Center of Functional Genomics, Berlin, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Gräfe D; Department of Pediatric Radiology, University Hospital Leipzig, Leipzig, Leipzig, Germany., Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland (CHI) at Temple Street, Dublin, Ireland.; UCD School of Medicine, Dublin, Ireland., Jones ER; Genuity Science, Cherrywood Business Park, Dublin, Ireland., Zamuner S; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland., Abriata LA; Laboratory for Biomolecular Modeling and Protein Purification and Structure Facility, EPFL and Swiss Institute of Bioinformatics, Lausanne Switzerland., Kunnathully V; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy., Moeller BE; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada., Vocat A; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Rommelaere S; Global Health Institute, School of Life Sciences and., Bocquete JP; Global Health Institute, School of Life Sciences and., Ruchti E; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Limoni G; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Van Campenhoudt M; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Bourgeat S; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Henklein P; Berlin Institute of Health, Institut für Biochemie, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany., Gilissen C; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands., van Bon BW; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands., Pfundt R; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands., Willemsen MH; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands., Schieving JH; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Nijmegen, Netherlands., Leonardi E; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy., Soli F; Medical Genetics Department, APSS Trento, Trento, Italy., Murgia A; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy., Guo H; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Zhang Q; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Xia K; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Fagerberg CR; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Beier CP; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Larsen MJ; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Fernández-Álvarez P; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Xiong S; Fetal Medicine Unit and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China., Śmigiel R; Department of Family and Pediatric Nursing, Medical University, Wroclaw, Poland., López-González V; 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Publikováno v: The Journal of clinical investigation [J Clin Invest] 2023 May 15; Vol. 133 (10). Date of Electronic Publication: 2023 May 15.
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10
Akademický článek
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Autor: Faas BHW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Westra D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Munnik SA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., van Rij M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Marcelis C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Joosten S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Krapels I; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Vernimmen V; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Heijligers M; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Rinne T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Smeekens SP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Stegmann SPA; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Macville M; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Sikkel E; Department of Obstetrics and Gynaecology, Radboud University Medical Center, Nijmegen, The Netherlands., Coumans A; Department of Obstetrics and Gynaecology, Maastricht University Medical Centre, Maastricht, The Netherlands., Wijnberger L; Department of Obstetrics and Gynaecology, Rijnstate Hospital, Arnhem, The Netherlands., Derks I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Lent-Albrechts J; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Hofste T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Timmermans R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van den End J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Feenstra I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v: Prenatal diagnosis [Prenat Diagn] 2023 Apr; Vol. 43 (4), pp. 527-543. Date of Electronic Publication: 2023 Feb 05.
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