Zobrazeno 1 - 10
of 122
pro vyhledávání: '"Wilson WG"'
Publikováno v:
Pediatrics in Review; Jan2007, Vol. 28 Issue 1, p37-38, 2p
Autor:
Lasio MLD; Department of Pathology, University of Utah, Salt Lake City, UT, USA; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh and Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Leshinski AC; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh and Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Ducich NH; Case Western Reserve University School of Medicine, Cleveland, OH, USA., Flore LA; Division of Genetic, Genomic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI and Central Michigan University College of Medicine, Mount Pleasant, MI, USA., Lehman A; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh and Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA; Division of Genetic, Genomic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI and Central Michigan University College of Medicine, Mount Pleasant, MI, USA., Shur N; Genetics and Metabolism, Rare Disease Institute, Children's National Hospital, Washington, DC, USA., Jayakar PB; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA., Hainline BE; Department of Medical and Molecular Genetics, Riley Hospital at Indiana University Health, Indianapolis, IN, USA., Basinger AA; Medical Genetics, Cook Children's Hospital, Fort Worth, TX, USA., Wilson WG; Department of Pediatrics, University of Virginia Health, Charlottesville, VA, USA., Diaz GA; Division of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Erbe RW; Departments of Pediatrics and Medicine, University at Buffalo, Buffalo, NY, USA., Koeberl DD; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Vockley J; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh and Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA; Department of Human Genetics, University of Pittsburgh School of Public Health, Pittsburgh, PA, USA., Bedoyan JK; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh and Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. Electronic address: jbedoyan@pitt.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2023 Jun; Vol. 139 (2), pp. 107605. Date of Electronic Publication: 2023 May 09.
Autor:
AlAbdi L; Department of Zoology, College of Science, King Saud University, Riyadh 11362, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Desbois M; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Rusnac DV; Department of Pharmacology, University of Washington School of Medicine, Seattle, WA 98195, USA.; Howard Hughes Medical Institute, Department of Pharmacology, University of Washington, Seattle, WA 98195, USA., Sulaiman RA; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lalani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Billie Au PY; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Towner S; Pediatric Genetics, University of Virginia, Charlottesville, VA 22903, USA., Wilson WG; Pediatric Genetics, University of Virginia, Charlottesville, VA 22903, USA., Wong L; Department of Genetics, Northern California Kaiser Permanente, Oakland, CA 94611, USA., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany., Strobl-Wildemann G; Department of Human Genetics, MVZ Humangenetik Ulm, 89073 Ulm, Germany., Burton JE; Department of Genetics, University of Illinois College of Medicine at Peoria, Peoria, IL 61605, USA., Hoganson G; Department of Genetics, University of Illinois College of Medicine at Peoria, Peoria, IL 61605, USA., McWalter K; Genedx, Inc., 207 Perry Parkway, Gaithersburg, MD 20877, USA., Begtrup A; Genedx, Inc., 207 Perry Parkway, Gaithersburg, MD 20877, USA., Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA., Christensen EL; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Opperman KJ; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Giles AC; Division of Medical Sciences, University of Northern British Columbia, Prince George, BC V2N 4Z9, Canada., Helaby R; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Kania A; Institut de recherches cliniques de Montréal (IRCM), Montréal, QC H2W 1R7, Canada.; Integrated Program in Neuroscience, McGill University, Montréal, QC H3A 2B4, Canada.; Division of Experimental Medicine, McGill University, Montréal, QC H3A 2B2, Canada.; Department of Anatomy and Cell Biology, McGill University, Montréal, QC H3A 0C7, Canada., Zheng N; Department of Pharmacology, University of Washington School of Medicine, Seattle, WA 98195, USA.; Howard Hughes Medical Institute, Department of Pharmacology, University of Washington, Seattle, WA 98195, USA., Grill B; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Department of Pharmacology, University of Washington School of Medicine, Seattle, WA 98195, USA.; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98101, USA., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Apr 19; Vol. 146 (4), pp. 1373-1387.
Autor:
McTiernan N; Department of Biomedicine, University of Bergen, Jonas Lies vei 91, 5020, Bergen, Norway., Tranebjærg L; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Bjørheim AS; Department of Biological Sciences, University of Bergen, 5020, Bergen, Norway., Hogue JS; Department of Pediatrics, Madigan Army Medical Center, Tacoma, WA, USA., Wilson WG; Division of Genetics, University of Virginia Health System, Charlottesville, VA, USA., Schmidt B; Division of Genetics, University of Virginia Health System, Charlottesville, VA, USA., Boerrigter MM; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Gastroenterology and Hepatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Nybo ML; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Laboratory of Molecular Pharmacology, Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Smeland MF; Department of Medical Genetics, University Hospital of North Norway, 9038, Tromso, Norway., Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Arnesen T; Department of Biomedicine, University of Bergen, Jonas Lies vei 91, 5020, Bergen, Norway. Thomas.Arnesen@uib.no.; Department of Biological Sciences, University of Bergen, 5020, Bergen, Norway. Thomas.Arnesen@uib.no.; Department of Surgery, Haukeland University Hospital, 5021, Bergen, Norway. Thomas.Arnesen@uib.no.
Publikováno v:
Human genetics [Hum Genet] 2022 Aug; Vol. 141 (8), pp. 1355-1369. Date of Electronic Publication: 2022 Jan 17.
Autor:
Wirth T; Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France., Garone G; University Hospital Pediatric Department, IRCCS Bambino Gesù Children's Hospital, University of Rome Tor Vergata, Rome, Italy.; Movement Disorders Clinic, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy., Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Piton A; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Laboratoire de diagnostic génétique, Nouvel Hôpital Civil, Hôpitaux universitaires de Strasbourg, Strasbourg, France., Millan F; GeneDx, Gaithersburg, Maryland, USA., Telegrafi A; GeneDx, Gaithersburg, Maryland, USA., Drouot N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France., Rudolf G; Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France., Chelly J; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Laboratoire de diagnostic génétique, Nouvel Hôpital Civil, Hôpitaux universitaires de Strasbourg, Strasbourg, France., Marks W; Cook Children's Medical Centre, Fort Worth, Texas, USA., Burglen L; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, Paris, France., Demailly D; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France., Coubes P; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France., Castro-Jimenez M; Service de Neurologie, Department of Clinical Neurosciences, Lausanne University Hospital (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland., Joriot S; Department of Paediatric Neurology, University Hospital of Lille, Lille, France., Ghoumid J; Univ. Lille, ULR7364 RADEME, CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France., Belin J; Service de neurologie, CHU Tours, Tours, France., Faucheux JM; Service de neurologie, Hôpital d'Agen, Agen, France., Blumkin L; Pediatric Movement Disorders Clinic, Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Hull M; Pediatric Movement Disorders Clinic, Blue Bird Circle Clinic for Pediatric Neurology, Section of Pediatric Neurology and Developmental Neuroscience, Texas Children's Hospital, Houston, Texas, USA., Parnes M; Pediatric Movement Disorders Clinic, Blue Bird Circle Clinic for Pediatric Neurology, Section of Pediatric Neurology and Developmental Neuroscience, Texas Children's Hospital, Houston, Texas, USA., Ravelli C; Sorbonne Université, Service de Neuropédiatrie-Pathologie du développement, centre de référence neurogénétique, Hôpital Trousseau AP-HP.SU, FHU I2D2, Paris, France., Poulen G; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France., Calmels N; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Laboratoire de diagnostic génétique, Nouvel Hôpital Civil, Hôpitaux universitaires de Strasbourg, Strasbourg, France., Nemeth AH; Oxford University Hospitals National Health Service Foundation Trust and University of Oxford, Oxford, United Kingdom., Smith M; Oxford University Hospitals National Health Service Foundation Trust and University of Oxford, Oxford, United Kingdom., Barnicoat A; Department of Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom., Ewenczyk C; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France., Méneret A; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France., Roze E; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France., Keren B; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France., Mignot C; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France., Beroud C; Aix Marseille Université, INSERM, MMG, Bioinformatics & Genetics, Marseille, France., Acosta F Jr; Cook Children's Medical Centre, Fort Worth, Texas, USA., Nowak C; The Feingold Center for Children, Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Wilson WG; Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA., Steel D; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Capuano A; Movement Disorders Clinic, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy., Vidailhet M; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France., Lin JP; Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas NHS Foundation Trust, London, United Kingdom., Tranchant C; Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France., Cif L; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France., Doummar D; Sorbonne Université, Service de Neuropédiatrie-Pathologie du développement, centre de référence neurogénétique, Hôpital Trousseau AP-HP.SU, FHU I2D2, Paris, France., Anheim M; Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Jul; Vol. 37 (7), pp. 1547-1554. Date of Electronic Publication: 2022 Jun 20.
Autor:
Bosch E; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany., Hebebrand M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany., Popp B; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 04103 Leipzig, Germany., Penger T; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, 91054 Erlangen, Germany., Behring B; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, 91054 Erlangen, Germany., Cox H; West Midlands Regional Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham B15 2TG, UK., Towner S; Department of Pediatrics, Division of Genetics, University of Virginia, Charlottesville, Virginia 22908, USA., Kraus C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany., Wilson WG; Department of Pediatrics, Division of Genetics, University of Virginia, Charlottesville, Virginia 22908, USA., Khan S; West Midlands Regional Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham B15 2TG, UK., Krumbiegel M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany., Ekici AB; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany., Uebe S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany., Trollmann R; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, 91054 Erlangen, Germany., Woelfle J; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, 91054 Erlangen, Germany., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2021 Nov 19; Vol. 106 (12), pp. 3413-3427.
Autor:
Elghawy O; University of Virginia School of Medicine, Charlottesville, Virginia, USA., Zhang AY; UVA Health Department of Ophthalmology, Charlottesville, Virginia, USA., Duong R; University of Virginia School of Medicine, Charlottesville, Virginia, USA., Wilson WG; UVA Health Department of Pediatrics, Charlottesville, Virginia, USA., Shildkrot EY; UVA Health Department of Ophthalmology, Charlottesville, Virginia, USA.
Publikováno v:
Case reports in ophthalmological medicine [Case Rep Ophthalmol Med] 2021 Oct 09; Vol. 2021, pp. 1345937. Date of Electronic Publication: 2021 Oct 09 (Print Publication: 2021).
Autor:
Spinelli E; Schulich School of Medicine and Dentistry, Western University, London, ON, Canada., Christensen KR; Department of Psychiatry, Yale School of Medicine, Connecticut Mental Health Center, New Haven, CT., Bryant E; Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Division of Genetics, Birth Defects and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Schneider A; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia., Rakotomamonjy J; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, IL., Muir AM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA., Giannelli J; Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Littlejohn RO; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Roeder ER; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Schmidt B; Division of Medical Genetics, University of Virginia, Charlottesville, VA., Wilson WG; Division of Medical Genetics, University of Virginia, Charlottesville, VA., Marco EJ; Department of Pediatrics, University of California, San Francisco, CA.; Research Division, Cortica Healthcare, San Rafael, CA., Iwama K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Kumada S; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan., Pisano T; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Barba C; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Vetro A; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Brilstra EH; Genetics Department, University Medical Centre Utrecht, Utrecht, The Netherlands., van Jaarsveld RH; Genetics Department, University Medical Centre Utrecht, Utrecht, The Netherlands., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Goldberg-Stern H; Epilepsy Unit and EEG Lab, Schneider Medical Center, Petah Tikv, Israel., Carney PW; Eastern Health Clinical School, Monash University, Melbourne, Victoria, Australia., Andrews PI; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia., El Achkar CM; Epilepsy Unit and EEG Lab, Schneider Medical Center, Petah Tikv, Israel., Berkovic S; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia., Rodan LH; Department of Neurology and Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., McWalter K; GeneDx, Gaithersburg, MD., Guerrini R; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA., Mandelstam S; Department of Pediatrics and Radiology, University of Melbourne, Melbourne, VIC, Australia.; Department of Medical Imaging, Royal Children's Hospital of Melbourne, Melbourne, VIC, Australia., Laux L; Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL., Millichap JJ; Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL., Guemez-Gamboa A; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, IL., Nairn AC; Department of Psychiatry, Yale School of Medicine, Connecticut Mental Health Center, New Haven, CT., Carvill GL; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL.; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL.
Publikováno v:
Annals of neurology [Ann Neurol] 2021 Aug; Vol. 90 (2), pp. 274-284. Date of Electronic Publication: 2021 Jul 13.
Autor:
Rots D; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands., Chater-Diehl E; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Dingemans AJM; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands., Goodman SJ; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Siu MT; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Cytrynbaum C; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada., Choufani S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Hoang N; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Walker S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Awamleh Z; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Charkow J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Meyn S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Pfundt R; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Rinne T; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Gardeitchik T; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., de Vries BBA; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands., Deden AC; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Leenders E; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Kwint M; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands., Stevens SJC; Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands., Vermeulen JR; Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands., van Harssel JVT; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands., Bosch DGM; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands., van Gassen KLI; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands., van Binsbergen E; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands., de Geus CM; University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands., Brackel H; Catharina Hospital, 5623 EJ Eindhoven, the Netherlands., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Slavotinek A; Division of Genetics, Department of Pediatrics, UCSF, San Francisco, CA 94143, USA., Strober J; Division of Child Neurology, Department of Neurology & Pediatrics, UCSF, San Francisco, CA 94143, USA., Crunk A; GeneDx, Gaithersburg, MD 20877, USA., Folk L; GeneDx, Gaithersburg, MD 20877, USA., Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA., Yang H; GeneDx, Gaithersburg, MD 20877, USA., Zou F; GeneDx, Gaithersburg, MD 20877, USA., Millan F; GeneDx, Gaithersburg, MD 20877, USA., Person R; GeneDx, Gaithersburg, MD 20877, USA., Xie Y; GeneDx, Gaithersburg, MD 20877, USA., Liu S; GeneDx, Gaithersburg, MD 20877, USA., Ousager LB; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; Department of Clinical Research, Clinical Genetics, University of Southern Denmark, 5230 Odense, Denmark., Larsen M; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; Department of Clinical Research, Clinical Genetics, University of Southern Denmark, 5230 Odense, Denmark., Schultz-Rogers L; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA., Klee EW; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55902, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55902, USA., Berry IR; Yorkshire and North East Genomic Laboratory Hub Central Laboratory, Leeds LS1 3EX, UK., Campbell J; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds LS7 4SA, UK., Lindstrom K; Phoenix Children's Hospital, Phoenix, AZ 85016 USA., Pruniski B; Phoenix Children's Hospital, Phoenix, AZ 85016 USA., Neumeyer AM; Massachusetts General Hospital for Children, Harvard Medical School, Boston, MA 02114, USA., Radley JA; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham B15 2TG, UK; Clinical Genetics, London North West University Healthcare Foundation Trust, London HA1 3UJ, UK., Phornphutkul C; Warren Alpert Medical School of Brown University, Providence, RI 02903, USA., Schmidt B; University of Virginia School of Medicine, Charlottesville, VA 22903, USA., Wilson WG; University of Virginia School of Medicine, Charlottesville, VA 22903, USA., Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, 50406 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50090 Tartu, Estonia., Reinson K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, 50406 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50090 Tartu, Estonia., Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, 50406 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50090 Tartu, Estonia., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Cuperus R; Department of Paediatrics, Juliana Children's Hospital HAGA, 2545 AA the Hague, the Netherlands., Santos-Simarro F; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain., Palomares-Bralo M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain., Pacio-Míguez M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain., Ritter A; Division of Human Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA., Bhoj E; Division of Human Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA., Tønne E; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway., Tveten K; Department of Medical genetics, Telemark Hospital Trust, 3710 Skien, Norway., Cappuccio G; Department of Translational Medicine, University of Naples 'Federico II,' 80138 Naples, Italy; Telethon Institute of Genetics and Medicine, 20129 Pozzuoli, Italy., Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II,' 80138 Naples, Italy; Telethon Institute of Genetics and Medicine, 20129 Pozzuoli, Italy., Rowe L; University of Colorado School of Medicine, Aurora, CO 13001, USA., Bunn J; University of Colorado School of Medicine, Aurora, CO 13001, USA., Saenz M; University of Colorado School of Medicine, Aurora, CO 13001, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Mertens M; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Caluseriu O; Department of Medical Genetics in the Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB T6G 2R3, Canada., Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada., Cohn RD; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1V7, Canada., Kannu P; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2R3, Canada., Alkhunaizi E; Genetics Program, North York General Hospital, Toronto, ON M2K 1E1, Canada., Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada., Scherer SW; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada., Brunner HG; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands; Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands., Vissers LELM; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands., Kleefstra T; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands., Koolen DA; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands. Electronic address: david.koolen@radboudumc.nl., Weksberg R; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1V7, Canada; Institute of Medical Science, School of Graduate Studies, University of Toronto, Toronto, ON M5S 2Z9, Canada. Electronic address: rweksb@sickkids.ca.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Jun 03; Vol. 108 (6), pp. 1053-1068. Date of Electronic Publication: 2021 Apr 27.
Autor:
Lenaerts L; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium., Reynhout S; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.; KU Leuven Brain Institute (LBI), Leuven, Belgium., Verbinnen I; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium., Laumonnier F; UMR1253, iBrain, University of Tours, INSERM, Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France., Toutain A; UMR1253, iBrain, University of Tours, INSERM, Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France., Bonnet-Brilhault F; UMR1253, iBrain, University of Tours, INSERM, Tours, France.; Excellence Center in Autism and Neurodevelopmental Disorders, Centre Hospitalier Régional Universitaire, Tours, France., Hoorne Y; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium., Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Chassevent AK; Kennedy Krieger Institute, Baltimore, MD, USA., Smith-Hicks C; Kennedy Krieger Institute, Baltimore, MD, USA., Loeys B; Center for Medical Genetics, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium., Joset P; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Mehta SG; East Anglian Regional Medical Genetics Service, Addenbrookes Hospital, Cambridge, UK., Chung WK; Columbia University Medical Center, New York, NY, USA., Devriendt K; Department of Human Genetics, University of Leuven (KU Leuven), Leuven, Belgium., Holder SE; North West Thames Regional Genetics Service, Harrow, London, UK., Jewett T; Wake Forest School of Medicine, Wake Forest University, Winston-Salem, NC, USA., Baldwin LM; Wake Forest School of Medicine, Wake Forest University, Winston-Salem, NC, USA., Wilson WG; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA., Towner S; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Johnson HF; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Daumer-Haas C; Prenatal Medicine Munich, Munich, Germany., Baethmann M; Pediatric Neurology, Sozialpädiatrisches Zentrum, Klinikum Dritter Orden München, Munich, Germany., Ruiz A; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain., Gabau E; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain., Jain V; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK., Varghese V; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK., Al-Beshri A; Internal Medicine & Medical Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Fulton S; Le Bonheur Children's Hospital, Memphis, TN, USA., Wechsberg O; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Maccabi Healthcare Services, Tel Aviv, Israel., Orenstein N; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Prescott K; Yorkshire Regional Genetics Department, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Childs AM; Department of Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Faivre L; Centre de référence Anomalies du Développement et Syndromes malformatifs, FHU TRANSLAD, UMR1231 GAD, CHU Dijon et Université de Bourgogne, Dijon, France., Moutton S; CPDPN, Pôle mère enfant, Maison de Santé Bordeaux Bagatelle, Talence, France., Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA., Koudijs SM; Maastricht UMC+, Maastricht, The Netherlands., Heijligers M; Department of Clinical Genetics, Maastricht UMC+, Maastricht, The Netherlands., Kivuva E; Royal Devon & Exeter NHS Foundation Trust, Exeter, UK., McTague A; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK., Male A; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK., van Ierland Y; Erasmus MC, Department of Clinical Genetics, Rotterdam, The Netherlands., Plecko B; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria., Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium., Hamid R; Vanderbilt University Medical Center, Nashville, TN, USA., Hannig VL; Vanderbilt University Medical Center, Nashville, TN, USA., Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway. gunnar.houge@helse-bergen.no., Janssens V; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium. veerle.janssens@kuleuven.be.; KU Leuven Brain Institute (LBI), Leuven, Belgium. veerle.janssens@kuleuven.be.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 352-362. Date of Electronic Publication: 2020 Oct 27.