Zobrazeno 1 - 10
of 90
pro vyhledávání: '"DT Pilz"'
Autor:
S Laycock-van Spyk, Gillian Spurlock, Hoi-Ping Jim, V.-F. Mautner, DT Pilz, Michael A. Patton, Laura E. Thomas, L Fares, S Palmer-Smith, Usha Kini, Meena Upadhyaya, Anand Saggar
Publikováno v:
Clinical genetics. 80(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81efe4ffec2db3311a2e0b73932161bd
https://pubmed.ncbi.nlm.nih.gov/21649642
https://pubmed.ncbi.nlm.nih.gov/21649642
Publikováno v:
Developmental Medicine & Child Neurology; Oct2003, Vol. 45 Issue 10, p704, 5p
Autor:
Nicola S. Cooper, S Samant, H Purnell, Claire L. S. Turner, A Vandersteen, Alex Magee, Susan Tomkins, Louise C. Wilson, L Greenhalgh, IK Temple, Irina Colgiu, A Duncan, G Cross, Susan E. Holder, C Wragg, Deirdre E. Donnelly, Nadia Akawi, Linda Sneddon, Eamonn Sheridan, Wendy D Jones, I Ellis, David Bourn, Joanna Poulton, Ingrid Simonic, R Singzon, Lisa Bradley, Matthew E. Hurles, Meena Balasubramanian, Dominic J. McMullan, Trevor Cole, Gillian Roberts, J Thomson, Moira Blyth, G Hollingsworth, Neeti Ghali, Alex Henderson, Zara Skitt, E Roberts, G Woods, David Goudie, J Awada, Caroline Langman, U Anjum, Martin O. Pollard, Usha Kini, Stephen Clayton, J Burn, Daniel M Barrett, Vka Kumar, Angela E. Douglas, Natalie Canham, Ruth Armstrong, Denise Williams, C Shaw-Smith, Lorraine Gaunt, S Ingram, Edward Blair, K Brunstrom, O. W.J. Quarrell, Ben Hutton, Nora Shannon, S Wallwark, Laura E Mason, Sarah F. Smithson, Jeremy F. McRae, Amanda L. Collins, Shane McKee, Katrina Prescott, Lara Cresswell, Sofia Douzgou, L Islam, C Deshpande, J Waters, Anna Middleton, S-M Park, Tarjinder Singh, Liu He, M Tein, T Fendick, B Kaemba, Tara Montgomery, Michael Wright, Jenny Morton, J Roberts, Emma Hobson, Caroline Mackie Ogilvie, Katrina Tatton-Brown, Lucy Jenkins, A Coates, Abhijit Dixit, Deborah J. Shears, Kath Smith, D. Baty, D Lim, D Cilliers, Richard Gibbons, Ruth Newbury-Ecob, M Squires, Nicola K. Ragge, Anneke Seller, E Kivuva, Kay Metcalfe, Fiona Stewart, K Marks, Elisabeth Rosser, R Fisher, Andrew E. Fry, Joan Paterson, Diana Wellesley, Dian Donnai, Christopher P. Bennett, Jonathan Berg, Ganesh J. Swaminathan, Lucy Raymond, Sally Ann Lynch, Pradeep C. Vasudevan, Rosemarie Davidson, Melita Irving, John Dean, Margo Whiteford, Melissa Lees, S Payne, K-R Ong, Emma Gray, M Holder, Dragana Josifova, Claire Kirk, McConnell, Helen Cox, Sarju G. Mehta, Elena Prigmore, Emma Shearing, Anand Saggar, Angela Barnicoat, Alejandro Sifrim, Nicola Foulds, Katherine Martin, Joanna Kaplanis, Sahar Mansour, Kirsty Ambridge, Clowes, A Procter, Z Miedzybrodzka, Katherine Lachlan, S Schweiger, E Maher, Allyson Ross, Simon Brent, C Sequeira, Tabib Dabir, Netravathi Krishnappa, Andrew Smith, B Bernhard, Andrew Green, Sara Widaa, Daniel A. King, Astrid Weber, Harinder Gill, Frances Flinter, Ruth McGowan, Siddharth Banka, Susan E. McNerlan, Elizabeth M. Sweeney, L Nevitt, Michael Parker, Hood Mugalaasi, AP Bevan, L Harrison, Varghese, Lucy Hildyard, Murday, G Kirby, S Clasper, Sutton, Clare Taylor, Andrew Jackson, A Selby, E Wilkinson, Miranda Splitt, Stuart Aitken, Shelagh Joss, Fiona Connell, Julie Vogt, Jill Clayton-Smith, Alan Fryer, N Pratt, Parthiban Vijayarangakannan, Shehla Mohammed, Susan Price, Wayne Lam, Peter D. Turnpenny, C Tysoe, Raheleh Rahbari, Marc Tischkowitz, N Williams, Tessa Homfray, Maria Bitner-Glindzicz, Helen Murphy, Meriel M. McEntagart, Sian Ellard, M Ahmed, R O'Shea, Andrew R. Norman, Daniel Perrett, Harrison, Philip Greene, David Moore, R Hawkins, DT Pilz, FitzPatrick, P Batstone, Esther Kinning, Caroline F. Wright, Yanick J. Crow, Kate Chandler, C Donnelly, Leema Robert, Straub, Susan M. Gribble, Philip Jones, D de Vries, K Evans, Simon J. Davies, Diana Baralle, E Miles, Jeffrey C. Barrett, A Lampe, Joshua C. Randall, Bruce Castle, K McKay, D Rice, Becky Treacy, Richard H Scott, Rosemary Kelsell, Angela F. Brady, Julian R. Sampson, J Jarvis, Laura Yates, R Sandford, Hayley Archer, M Yau, Mohnish Suri, Caroline Pottinger, Dhavendra Kumar, R. Taylor, Alison Kraus, L Bourdon, Alan Donaldson, S Everest, S Kazembe, Sian Morgan, C Longman, Ingrid Scurr, Alison Male, Ajoy Sarkar, Helen Kingston, Emma McCann, Julie M. Phipps, Andrea H. Németh, A Pridham, D Bohanna, C Gardiner, Diana Johnson, Tomas W Fitzgerald, Eleni A. Chatzimichali, A Dobbie, Diana Rajan, Frances Elmslie, Mohsan Alvi, Pendaran Roberts, Bronwyn Kerr, M D'Alessandro, Elizabeth A. Jones, Simon Holden, U Maye, Helen V. Firth, J Rankin, H. Stewart, S Naik, Adrian Tivey, Chirag N. Patel, Tanya Bayzetinova, G Lowther, G Devlin, A Torokwa, DJ Bunyan, Judith A. Goodship, Sarah Hewitt, Emma Wakeling, Christoffer Nellåker, S Wilcox, Saba Sharif, MN Collinson, C Brewer, Jacqueline Eason, C McWilliam, Jane A. Hurst, Angus John Clarke, Mervyn Humphreys, Stephen W. Hellens
Publikováno v:
bioRxiv
Individuals with severe, undiagnosed developmental disorders (DDs) are enriched for damaging de novo mutations (DNMs) in developmentally important genes. We exome sequenced 4,293 families with individuals with DDs, and meta-analysed these data with p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05bb4561c3a9591c4a2949e1c96f759e
https://eprints.whiterose.ac.uk/142386/8/049056v3.full.pdf
https://eprints.whiterose.ac.uk/142386/8/049056v3.full.pdf
Autor:
Halliday BJ; From the Departments of Women's and Children's Health (B.J.H., S.P.R.) benjamin.halliday@otago.ac.nz., Baynam G; Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia (G.B.), Undiagnosed Diseases Program, King Edward Memorial Hospital, Perth, Australia., Ewans L; Centre for Population Genomics (L.E.), Garvan Institute of Medical Research, Sydney, Australia.; Centre for Clinical Genetics (L.E., R.S.), Sydney Children's Hospital, Sydney, Australia., Greenhalgh L; Liverpool Centre for Genomic Medicine (L.G.), Liverpool Women's Hospital, Liverpool, England., Leventer RJ; Murdoch Children's Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia.; Department of Paediatrics (R.J.L., I.E.S., S.M.), Epilepsy Research Centre.; Departments of Neurology (R.J.L., I.E.S.)., Pilz DT; West of Scotland Genetics Service (D.T.P.), Queen Elizabeth University Hospital, Glasgow, UK., Sachdev R; Centre for Clinical Genetics (L.E., R.S.), Sydney Children's Hospital, Sydney, Australia., Scheffer IE; Murdoch Children's Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia.; Department of Paediatrics (R.J.L., I.E.S., S.M.), Epilepsy Research Centre.; Austin Health (I.E.S.).; Florey Institute (I.E.S.), University of Melbourne, Melbourne, Australia.; Departments of Neurology (R.J.L., I.E.S.)., Markie DM; Pathology (D.M.M.), OtagoMedical School, University of Otago, Dunedin, New Zealand., McGillivray G; Murdoch Children's Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia.; Victorian Clinical Genetics Services (G.M.), Murdoch Children's Research Institute, Melbourne, Australia., Robertson SP; From the Departments of Women's and Children's Health (B.J.H., S.P.R.)., Mandelstam S; Murdoch Children's Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia.; Department of Paediatrics (R.J.L., I.E.S., S.M.), Epilepsy Research Centre.; Radiology (S.M.), Royal Children's Hospital, Melbourne, Australia.
Publikováno v:
AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2022 Nov; Vol. 43 (11), pp. 1660-1666. Date of Electronic Publication: 2022 Oct 13.
Autor:
Symonds JD; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow G51 4TF, UK.; Institute of Health and Wellbeing, University of Glasgow, Glasgow G12 8QQ, UK., Elliott KS; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Shetty J; Department of Paediatric Neurosciences, Royal Hospital for Sick Children, Sciennes Road, Edinburgh EH9 1LF, UK., Armstrong M; UCB Pharma, Braine l'Alleud, Belgium., Brunklaus A; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow G51 4TF, UK.; Institute of Health and Wellbeing, University of Glasgow, Glasgow G12 8QQ, UK., Cutcutache I; UCB Pharma, Slough, UK., Diver LA; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow G51 4TF, UK., Dorris L; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow G51 4TF, UK.; Institute of Health and Wellbeing, University of Glasgow, Glasgow G12 8QQ, UK., Gardiner S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow G51 4TF, UK., Jollands A; Paediatric Neurology, Tayside Children's Hospital, Dundee DD1 9SY, UK., Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow G51 4TF, UK., Kirkpatrick M; Paediatric Neurology, Tayside Children's Hospital, Dundee DD1 9SY, UK.; School of Medicine, University of Dundee DD1 9SY, UK., McLellan A; Department of Paediatric Neurosciences, Royal Hospital for Sick Children, Sciennes Road, Edinburgh EH9 1LF, UK., MacLeod S; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow G51 4TF, UK., O'Regan M; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow G51 4TF, UK.; Paediatric Neurology, Crumlin Children's Hospital, Cooley Rd, Crumlin, Dublin D12 N512, Ireland., Page M; UCB Pharma, Braine l'Alleud, Belgium., Pilley E; Department of Paediatric Neurosciences, Royal Hospital for Sick Children, Sciennes Road, Edinburgh EH9 1LF, UK.; Paediatric Neurology, Tayside Children's Hospital, Dundee DD1 9SY, UK., Pilz DT; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow G51 4TF, UK., Stephen E; Paediatric Neurology, Royal Aberdeen Children's Hospital, Aberdeen AB25 2ZG, UK., Stewart K; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow G51 4TF, UK., Ashrafian H; Division of Cardiovascular Medicine, John Radcliffe Hospital, Oxford, UK.; Department of Experimental Therapeutics, Radcliffe Department of Medicine, John Radcliffe Hospital, Oxford, UK., Knight JC; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Zuberi SM; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow G51 4TF, UK.; Institute of Health and Wellbeing, University of Glasgow, Glasgow G12 8QQ, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2021 Oct 22; Vol. 144 (9), pp. 2879-2891.
Autor:
Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands. r.oegema@umcutrecht.nl., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Wilke M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Stouffs K; Centre for Medical Genetics, UZ Brussel, Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, Belgium., Amrom D; Pediatric Neurology, Kannerklinik, Centre Hospitalier de Luxembourg, Luxembourg, Grand Duchy of Luxembourg.; Pediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium., Aronica E; Amsterdam UMC, University of Amsterdam, Department of (Neuro)pathology, Amsterdam, Netherlands.; Stichting Epilepsie Instellingen Nederland (SEIN), Amsterdam, Netherlands., Bahi-Buisson N; Pediatric Neurology, Necker Enfants Malades, University Hospital Imagine Institute, Paris, France., Conti V; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy., Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK., Geis T; Department of Pediatric Neurology, Klinik St Hedwig, University Children's Hospital Regensburg (KUNO), Regensburg, Germany., Andres DG; Child Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Parrini E; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy., Pogledic I; Department of Biomedical Imaging and Image Guided Therapy, Medical University of Vienna, Vienna, Austria., Said E; Department of Biomedical Imaging and Image Guided Therapy, Medical University of Vienna, Vienna, Austria.; Section of Medical Genetics, Mater dei Hospital, Msida, Malta., Soler D; Department of Anatomy and Cell Biology, University of Malta, Msida, Malta.; Department of Paediatrics, Mater dei Hospital, Msida, Malta., Valor LM; Hospital Universitario Puerta del Mar, INiBICA, Puerta, Spain., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Mirzaa G; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Dobyns WB; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Reiner O; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy., Pilz DT; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Hehr U; Center for Human Genetics Regensburg, Regensburg, Germany., Leventer RJ; Department of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Melbourne, VIC, Australia., Jansen AC; Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium., Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, Netherlands., Di Donato N; Institute for Clinical Genetics, TU Dresden, Dresden, Germany. nataliya.didonato@uniklinikum-dresden.de.
Publikováno v:
Nature reviews. Neurology [Nat Rev Neurol] 2020 Nov; Vol. 16 (11), pp. 618-635. Date of Electronic Publication: 2020 Sep 07.
Autor:
Zaman T; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Helbig KL; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Clatot J; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Thompson CH; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Kang SK; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Stouffs K; Center for Medical Genetics/Research Center for Reproduction and Genetics, University Hospital Brussels, Free University of Brussels, Brussels, Belgium., Jansen AE; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Brussels, Brussels, Belgium.; Neurogenetics Research Group, Free University of Brussels, Brussels, Belgium., Verstraete L; Child Neurology, Heilig Hart Hospital Lier, Lier, Belgium., Jacquinet A; Human Genetics Service, Sart Tilman University Hospital Center, Liege, Belgium., Parrini E; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy., Guerrini R; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy., Fujiwara Y; Department of Pediatrics, Yokohama City University Medical Center, Yokohama, Japan., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Ben-Zeev B; Pediatric Neurology Unit, Edmond and Lili Safra Children's Hospital, Haim Sheba Medical Center, Ramat Gan, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Bassan H; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Neurology & Development Center, Shamir Medical Center (Assaf Harofe), Zerifin, Israel., Reish O; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Genetics Institute, Shamir Medical Center (Assaf Harofe) Zerifin, Zerifin, Israel., Marom D; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Genetics Institute, Shamir Medical Center (Assaf Harofe) Zerifin, Zerifin, Israel., Hauser N; Inova Translational Medicine Institute, Inova Health System, Fairfax, Virginia, USA., Vu TA; Department of Pediatric Neurology, Children's National Medical Center, Washington, District of Columbia, and Pediatric Specialists of Virginia, Fairfax, Virginia, USA., Ackermann S; Division of Paediatric Neurology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa., Spencer CE; Division of Human Genetics, Department of Medicine, University of Cape Town, South Africa and Groote Schuur Hospital, Cape Town, South Africa., Lippa N; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, USA., Srinivasan S; Department of Neurology, Columbia University Medical Center, New York, New York, USA., Charzewska A; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Fitzpatrick D; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom., Vasudevan P; Department of Clinical Genetics, University Hospitals Leicester National Health Service Trust, Leicester, United Kingdom., Joss S; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, United Kingdom., Pilz DT; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, United Kingdom.; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom., Fawcett KA; Medical Research Council (MRC) Computational Genomics Analysis and Training Programme, MRC Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom., Helbig I; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Kearney JA; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Fry AE; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom.; Institute of Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom., Goldberg EM; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Neuroscience, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Publikováno v:
Annals of neurology [Ann Neurol] 2020 Aug; Vol. 88 (2), pp. 348-362. Date of Electronic Publication: 2020 Jul 09.
Autor:
Vandervore LV; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands; Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels 1090, Belgium; Center for Medical Genetics, UZ Brussel, Brussels 1090, Belgium., Schot R; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Milanese C; Department of Molecular Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Smits DJ; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Kasteleijn E; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK., Pilz DT; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Brock S; Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels 1090, Belgium; Department of Pathology, UZ Brussels, Brussels 1090, Belgium., Börklü-Yücel E; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands; Department of Cell Biology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands; Medical Genetics Department, Koç University School of Medicine, Istanbul 34010, Turkey., Post M; Department of Cell Biology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Bahi-Buisson N; Imagine Institute, INSERM UMR-1163, Laboratory Genetics and Embryology of Congenital Malformations, Paris Descartes University, Institut des Maladies Génétiques 24, Boulevard de Montparnasse, Paris 75015, France., Sánchez-Soler MJ; Sección Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia 30120, España., van Slegtenhorst M; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Keren B; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris 75013, France., Afenjar A; Département de génétique et embryologie médicale, CRMR des malformations et maladies congénitales du cervelet et des déficits intellectuels de causes rares, GRC n°19, pathologies Congénitales du Cervelet-LeucoDystrophies, Sorbonne Universités, Hôpital Trousseau, Paris 75012, France., Coury SA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3584 CX, the Netherlands., de Vries LS; Department of Neonatology, University Medical Center Utrecht, Utrecht University, 3584 CX, the Netherlands., Fawcett KA; Medical Research Council (MRC) Computational Genomics Analysis and Training Programme, MRC Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK., Nikkels PGJ; Department of Pathology, University Medical Center Utrecht, Utrecht University, 3584 CX, the Netherlands., Bertoli-Avella A; Centogene AG, Rostock 18055, Germany., Al Hashem A; Division of Medical Genetic, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 12233, Saudi Arabia., Alwabel AA; Division of General Pediatrics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 12233, Saudi Arabia., Tlili-Graiess K; Division of Neuroradiology, Department of Radiology, Prince Sultan Military Medical City, Riyadh 12233, Saudi Arabia., Efthymiou S; Department of Neuromuscular Disorders, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK., Zafar F; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Multan 60000, Pakistan., Rana N; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Multan 60000, Pakistan., Bibi F; University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi 43600, Pakistan., Houlden H; Department of Neuromuscular Disorders, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK., Maroofian R; Department of Neuromuscular Disorders, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK., Person RE; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Crunk A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Savatt JM; The Autism & Developmental Medicine Institute at Geisinger, Danville, PA 17822, USA., Turner L; The Autism & Developmental Medicine Institute at Geisinger, Danville, PA 17822, USA., Doosti M; Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad 009851, Iran., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace London, SW17 ORE, UK; Innovative Medical Research Center, Mashhad Branch, Islamic Azdad University, Mashhad 9133736351, Iran., Saadi NW; College of Medicine / Baghdad University, Children Welfare Teaching Hospital, Medical City Complex, Baghdad 10001, Iraq., Akhondian J; Department of Pediatric Neurology, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad 009851, Iran., Lequin MH; Department of Radiology, University Medical Center Utrecht, Utrecht, 3584 CX, the Netherlands., Kayserili H; Medical Genetics Department, Koç University School of Medicine, Istanbul 34010, Turkey., van der Spek PJ; Department of Pathology, Clinical Bio-informatics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Jansen AC; Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels 1090, Belgium; Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Brussels 1090, Belgium., Kros JM; Department of Pathology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Verdijk RM; Department of Pathology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Milošević NJ; Croatian Institute of Brain Research, School of Medicine, University of Zagreb, Zagreb 10000, Croatia., Fornerod M; Department of Cell Biology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Mastroberardino PG; Department of Molecular Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands; Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila 67100, Italy., Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands. Electronic address: g.mancini@erasmusmc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2019 Dec 05; Vol. 105 (6), pp. 1126-1147. Date of Electronic Publication: 2019 Nov 14.
Autor:
Symonds JD; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, UK., Zuberi SM; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, UK., Stewart K; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., McLellan A; Department of Paediatric Neurosciences, Royal Hospital for Sick Children, Sciennes Road, Edinburgh, UK., O'Regan M; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK., MacLeod S; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK., Jollands A; Paediatric Neurology, Tayside Children's Hospital, Dundee, UK., Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Kirkpatrick M; Paediatric Neurology, Tayside Children's Hospital, Dundee, UK., Brunklaus A; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, UK., Pilz DT; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Shetty J; Department of Paediatric Neurosciences, Royal Hospital for Sick Children, Sciennes Road, Edinburgh, UK., Dorris L; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, UK., Abu-Arafeh I; Department of Paediatrics, Forth Valley Royal Hospital, Larbert, UK., Andrew J; Department of Paediatrics, University Hospital Wishaw, Netherton Street, Wishaw, UK., Brink P; Paediatric Neurology, Tayside Children's Hospital, Dundee, UK., Callaghan M; Department of Paediatrics, University Hospital Wishaw, Netherton Street, Wishaw, UK., Cruden J; Department of Paediatrics, Victoria Hospital, Kirkcaldy, UK., Diver LA; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Findlay C; Department of Paediatrics, University Hospital Crosshouse, Kilmarnock, UK., Gardiner S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Grattan R; Department of Paediatrics, Forth Valley Royal Hospital, Larbert, UK., Lang B; Nuffield Department of Clinical Neurosciences, Level 6, West Wing, John Radcliffe Hospital, Oxford, UK., MacDonnell J; Department of Paediatrics, Borders General Hospital, Melrose, UK., McKnight J; Department of Paediatrics, Dumfries and Galloway Royal Infirmary, Dumfries, UK., Morrison CA; Department of Paediatrics, University Hospital Crosshouse, Kilmarnock, UK., Nairn L; Department of Paediatrics, Royal Alexandra Hospital, Paisley, UK., Slean MM; College of Medical, Veterinary and Life Sciences, University of Glasgow, UK., Stephen E; Department of Paediatrics, Royal Aberdeen Children's Hospital, Aberdeen, UK., Webb A; Department of Paediatrics, Raigmore Hospital, Inverness, UK., Vincent A; Nuffield Department of Clinical Neurosciences, Level 6, West Wing, John Radcliffe Hospital, Oxford, UK., Wilson M; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2019 Aug 01; Vol. 142 (8), pp. 2303-2318.
Autor:
Zawerton A, Yao B, Yeager JP, Pippucci T, Haseeb A, Smith JD, Wischmann L, Kühl SJ, Dean JCS, Pilz DT, Holder SE, McNeill A, Graziano C, Lefebvre V
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2019 Apr 04; Vol. 104 (4), pp. 777.