Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1

• Crow, Yanick J. Manchester Centre for Genomic Medicine; Institute of Human Development, Faculty of Medical and Human Sciences; Manchester Academic Health Sciences Centre; University of Manchester; Manchester UK
• Chase, Diana S. Manchester Centre for Genomic Medicine; Institute of Human Development, Faculty of Medical and Human Sciences; Manchester Academic Health Sciences Centre; University of Manchester; Manchester UK
• Lowenstein Schmidt, Johanna Department of Neurology & Center for Genetic Medicine Research, George Washington University School of Medicine; Children's National Health System; Washington District of Columbia
• Szynkiewicz, Marcin Manchester Centre for Genomic Medicine; Institute of Human Development, Faculty of Medical and Human Sciences; Manchester Academic Health Sciences Centre; University of Manchester; Manchester UK
• Forte, Gabriella M.A. Manchester Centre for Genomic Medicine; Institute of Human Development, Faculty of Medical and Human Sciences; Manchester Academic Health Sciences Centre; University of Manchester; Manchester UK
• Gornall, Hannah L. Manchester Centre for Genomic Medicine; Institute of Human Development, Faculty of Medical and Human Sciences; Manchester Academic Health Sciences Centre; University of Manchester; Manchester UK
• Oojageer, Anthony Manchester Centre for Genomic Medicine; Institute of Human Development, Faculty of Medical and Human Sciences; Manchester Academic Health Sciences Centre; University of Manchester; Manchester UK
• Anderson, Beverley Manchester Centre for Genomic Medicine; Institute of Human Development, Faculty of Medical and Human Sciences; Manchester Academic Health Sciences Centre; University of Manchester; Manchester UK
• Pizzino, Amy Department of Neurology & Center for Genetic Medicine Research, George Washington University School of Medicine; Children's National Health System; Washington District of Columbia
• Helman, Guy Department of Neurology & Center for Genetic Medicine Research, George Washington University School of Medicine; Children's National Health System; Washington District of Columbia
• Abdel-Hamid, Mohamed S. Medical Molecular Genetics Department; Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt
• Abdel-Salam, Ghada M. Clinical Genetics Department, Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt
• Ackroyd, Sam Department of Haematology; Bradford Royal Infirmary; Bradford UK
• Aeby, Alec Départment de Neuropédiatrie; Hôpital Erasme-Université Libre de Bruxelles (ULB); Brussels Belgium
• Agosta, Guillermo Child Neurology Division; Hospital Italiano de Buenos Aires; Beunos Aires Argentina
• Albin, Catherine Department of Pediatric Neurology; Kaiser Permanente; Santa Clara California
• Allon-Shalev, Stavit The Rappaport Faculty of Medicine; Technion; Haifa Israel
• Arellano, Montse Department of Pediatric Neurology; Hospital Universitari Mutua Terrassa; Barcelona Spain
• Ariaudo, Giada Department of Brain and Behavioural Sciences, Child Neurology and Psychiatry Unit; University of Pavia; Pavia Italy
• Aswani, Vijay Department of Internal Medicine and Pediatrics; Marshfield Clinic; Marshfield Massachusetts
• Babul-Hirji, Riyana Department of Molecular Genetics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children; University of Toronto; Toronto Canada
• Baildam, Eileen M. Department of Paediatric Rheumatology; Alder Hey Children's National Health Service (NHS) Foundation Trust; Liverpool UK
• Bahi-Buisson, Nadia Department of Paediatric Neurology; Hôpital Necker-Enfants Malades; AP-HP; Paris France
• Bailey, Kathryn M. Department of Paediatrics; University Hospitals Coventry and Warwickshire; Coventry UK
• Barnerias, Christine Department of Paediatric Neurology; Hôpital Necker-Enfants Malades; AP-HP; Paris France
• Barth, Magalie Department of Genetics; CHU Angers; Angers France
• Battini, Roberta Department of Developmental Neuroscience; IRCCS Stella Maris; Pisa Italy
• Beresford, Michael W. Department of Women's and Children's Health; Institute of Translational Medicine; University of Liverpool; Liverpool UK
• Bernard, Geneviève Departments of Pediatrics, Neurology and Neurosurgery; Division of Pediatric Neurology; Montreal Children's Hospital; McGill University Health Center; Montreal Canada
• Bianchi, Marika Laboratory of Experimental Neurobiology; C. Mondino National Neurological Institute; Pavia Italy
• Billette de Villemeur, Thierry Inserm U1141; Paris France
• Blair, Edward M. Department of Clinical Genetics; Oxford University Hospitals NHS Trust; Oxford UK
• Bloom, Miriam Division of Hospitalist Medicine; George Washington University School of Medicine; Children's National Health System; Washington District of Columbia
• Burlina, Alberto B. Department of Pediatrics; Division of Inherited Metabolic Diseases; University Hospital; Padova Italy
• Luisa Carpanelli, Maria Department of Child Neurology and Psychiatry; A Manzoni Hospital; Lecco Italy
• Carvalho, Daniel R. Genetic Unit; SARAH Network of Rehabilitation Hospitals; Brasilia Brazil
• Castro-Gago, Manuel Department of Pediatric Neurology; Hospital Clínico Universitario; University of Santiago de Compostela; Santiago de Compostela Spain
• Cavallini, Anna Neuropsychiatry and Neurorehabilitation Unit; Scientific Institute; IRCCS Eugenio Medea; Bosisio Parini Italy
• Cereda, Cristina Laboratory of Experimental Neurobiology; C. Mondino National Neurological Institute; Pavia Italy
• Chandler, Kate E. Manchester Centre for Genomic Medicine; St Mary's Hospital; Manchester UK
• Chitayat, David A. Department of Paediatrics; Division of Clinical and Metabolic Genetics; The Hospital for Sick Children; University of Toronto; Toronto Ontario Canada
• Collins, Abigail E. Department of Pediatrics and Neurology; Children's Hospital Colorado; University of Colorado; Colorado
• Sierra Corcoles, Concepcion Department of Paediatric Neurology; Complejo Hospitalario Jaén; Jaén Spain
• Cordeiro, Nuno J.V. Department of Paediatrics; NHS Ayrshire & Arran; Irvine UK
• Crichiutti, Giovanni Paediatric Department; Azienda Ospedaliera Universitaria di Udine; Udine Italy
• Dabydeen, Lyvia Paediatric Neurology, Children's Department; University Hospitals of Leicester NHS Trust; Leicester UK
• Dale, Russell C. Institute for Neuroscience and Muscle Research; Children's Hospital at Westmead; University of Sydney; Sydney Australia
• D′Arrigo, Stefano Child Neurology Department; IRCCS Foundation Istituto Neurologico C. Besta; Milan Italy
• De Goede, Christian G.E.L. Department of Paediatric Neurology; Royal Preston Hospital; Preston UK
• De Laet, Corinne Nutrition and Metabolism Unit; Hôpital Universitaire des Enfants Reine Fabiola; Brussels Belgium
• De Waele, Liesbeth M.H. Department of Development and Regeneration; Leuven Belgium
• Denzler, Ines Child Neurology Division; Hospital Italiano de Buenos Aires; Beunos Aires Argentina
• Desguerre, Isabelle Department of Paediatric Neurology; Hôpital Necker-Enfants Malades; AP-HP; Paris France
• Devriendt, Koenraad Center for Human Genetics; University of Leuven; Leuven Belgium
• Di Rocco, Maja Department of Pediatrics; Unit of Rare Diseases; Institute Gaslini; Genoa Italy
• Fahey, Michael C. Department of Paediatrics; Monash University; Melbourne Australia
• Fazzi, Elisa Department of Clinical and Experimental Sciences; Child Neurology and Psychiatry Unit; University of Brescia; Brescia Italy
• Ferrie, Colin D. Department of Paediatric Neurology; Leeds General Infirmary; Leeds UK
• Figueiredo, António Department of Paediatrics; Hospital Professor Doutor Fernando Fonseca; EPE; Lisbon Portugal
• Gener, Blanca Servicio de Genética; Hospital Universitario Cruces; BioCruces Health Research Institute; Baracaldo Spain
• Goizet, Cyril Department of Medical Genetics; CHU Bordeaux; Hopital Pellegrin; Bordeaux France
• Gowrinathan, Nirmala R. Department of Neurology; Kaiser Permanente; Los Angeles California
• Gowrishankar, Kalpana Department of Medical Genetics; Kanchi Kamakoti Child's Trust Hospital; Chennai India
• Hanrahan, Donncha Department of Paediatric Neurology; Royal Belfast Hospital for Sick Children; Belfast UK
• Isidor, Bertrand Service de Génétique Médicale; CHU de Nantes; Nantes France
• Kara, Bülent Department of Paediatric Neurology; Department of Pediatrics; Kocaeli University Medicine Faculty; Kocaeli Turkey
• Khan, Nasaim Manchester Centre for Genomic Medicine; St Mary's Hospital; Manchester UK
• King, Mary D. Department of Paediatric Neurology; Temple St Children's University Hospital; Dublin Eire
• Kirk, Edwin P. Department of Medical Genetics; Sydney Children's Hospital; Sydney Australia
• Kumar, Ram Department of Paediatric Neurology; Alder Hey Children's NHS Foundation Trust; Liverpool UK
• Lagae, Lieven Department of Paediatric Neurology; University Hospitals Leuven; ku Leuven kulak Belgium
• Landrieu, Pierre CHU Bicêtre; Le Kremlin-Bicêtre France
• Lauffer, Heinz Department of Neuropediatrics; Children's Hospital; University of Greifswald; Greifswald Germany
• Laugel, Vincent Department of Paediatric Neurology; Strasbourg-Hautepierre University Hospital; Strasbourg France
• Piana, Roberta La Department of Neuroradiology; Montreal Neurological Institute and Hospital; McGill University; Montreal Canada
• Lim, Ming J. Department of Children's Neurosciences; Evelina London Children's Hospital; Kings Health Partners AHSC; London UK
• Lin, Jean-Pierre S.-M. General Neurology & Complex Motor Disorders Service; Evelina Children's Hospital; Guy's & St Thomas' NHS Foundation Trust; London UK
• Linnankivi, Tarja Department of Paediatric Neurology; Helsinki University Central Hospital; Children's Hospital; Helsinki Finland
• Mackay, Mark T. Department of Paediatric Neurology; The Royal Children's Hospital; Melbourne Australia
• Marom, Daphna R. Department of Paediatrics; Schneider Children's Medical Center of Israel; Petach-Tikva Israel
• Marques Lourenço, Charles Neurogenetics Unit; Clinics Hospital of Ribeirão Preto; University of São Paulo; São Paulo Brazil
• McKee, Shane A. Department of Genetic Medicine; Belfast City Hospital; Belfast UK
• Moroni, Isabella Child Neurology Department; IRCCS Foundation Istituto Neurologico C. Besta; Milan Italy
• Morton, Jenny E.V. West Midlands Regional Genetics Service; Birmingham Women's Hospital; Birmingham UK
• Moutard, Marie-Laure Sorbonne Universités; UPMC Univ Paris 06; Paris France
• Murray, Kevin Department of Rheumatology; Princess Margaret Hospital for Children; Perth Australia
• Nabbout, Rima Department of Paediatric Neurology; Hôpital Necker-Enfants Malades; AP-HP; Paris France
• Nampoothiri, Sheela Department of Pediatric Genetics; Amrita Institute of Medical Sciences and Research Centre; Cochin Kerala India
• Nunez-Enamorado, Noemi Department of Paediatric Neurology; 12 October University Hospital; Madrid Spain
• Oades, Patrick J. Department of Child Health; Royal Devon & Exeter Foundation NHS Trust; Exeter UK
• Olivieri, Ivana Child Neurology and Psychiatry Unit; C. Mondino National Neurological Institute; Pavia Italy
• Ostergaard, John R. Department of Pediatrics; Centre for Rare Diseases; Aarhus University Hospital; Aarhus Denmark
• Pérez-Dueñas, Belén Department of Paediatric Neurology; Hospital Sant Joan de Déu; University of Barcelona; Barcelona Spain
• Prendiville, Julie S. Department of Pediatric Dermatology; British Columbia's Children's Hospital; Vancouver British Columbia Canada
• Ramesh, Venkateswaran Department of Paediatric Neurology; Great Northern Children's Hospital; Newcastle upon Tyne UK
• Rasmussen, Magnhild Women and Children's Division; Section for Child Neurology; Oslo University Hospital; Oslo Norway
• Régal, Luc Department of Pediatric Metabolic Disorders; University Hospital Leuven; Leuven Belgium
• Ricci, Federica Department of Public Health and Pediatric Sciences; Child Neurology and Psychiatry Unit; Regina Margherita Children Hospital; Torino Italy
• Rio, Marlène Service de Génétique; Hôpital Necker-Enfants Malades; AP-HP; Paris France
• Rodriguez, Diana Inserm U1141; Paris France
• Roubertie, Agathe Neuropediatrie; Hopital Gui de Chauliac & INSERM U1051; Montpellier France
• Salvatici, Elisabetta Department of Pediatrics; San Paolo Hospital; University of Milan; Milan Italy
• Segers, Karin A. Department of Human Genetics; Centre Hospitalier Universitaire de Liège; Liège Belgium
• Sinha, Gyanranjan P. Department of Pediatrics; Manor Hospital; Walsall UK
• Soler, Doriette Department of Paediatric Neurology; Mater Dei Hospital; Msida Malta
• Spiegel, Ronen The Rappaport Faculty of Medicine; Technion; Haifa Israel
• Stödberg, Tommy I. Department of Paediatric Neurology; Karolinska University Hospital; Stockholm Sweden
• Straussberg, Rachel Schneider's Children Medical Center; Sackler School of Medicine; Tel Aviv University; Tel Aviv Israel
• Swoboda, Kathryn J. Neurology/Pediatric Motor Disorders Research Program; University of Utah School of Medicine; Salt Lake City
• Suri, Mohnish Nottingham Clinical Genetics Service; Nottingham University Hospitals NHS Trust; City Hospital Campus; Nottingham UK
• Tacke, Uta Department of Paediatric Neurology; University Children's Hospital; Basel Switzerland
• Tan, Tiong Y. Department of Paediatrics; Murdoch Children's Research Institute; Victorian Clinical Genetics Services; University of Melbourne; Melbourne Australia
• te Water Naude, Johann Department of Child Health; University Hospital of Wales; Cardiff UK
• Wee Teik, Keng Genetic Department; Hospital Kuala Lumpur; Kuala Lumpur Malaysia
• Mary Thomas, Maya Department of Neurological Sciences; Christian Medical College; Tamil Nadu India
• Till, Marianne Service de Génétique; GHE; Hospices Civils de Lyon; Lyon-Bron France
• Tonduti, Davide Child Neurology Department; IRCCS Foundation Istituto Neurologico C. Besta; Milan Italy
• Maria Valente, Enza Mendel Laboratory; IRCCS Casa Sollievo della Sofferenza Institute; San Giovanni Rotondo Italy
• Noel Van Coster, Rudy Department of Pediatrics; Division of Pediatric Neurology; University Hospital Ghent; Ghent Belgium
• van der Knaap, Marjo S. Department of Paediatric Neurology; VU University Medical Center; Amsterdam The Netherlands
• Vassallo, Grace Department of Paediatric Neurology; Royal Manchester Children's Hospital; Manchester UK
• Vijzelaar, Raymon MRC-Holland; Amsterdam The Netherlands
• Vogt, Julie West Midlands Regional Genetics Service; Birmingham Women's Hospital; Birmingham UK
• Wallace, Geoffrey B. Department of Neuroscience; Mater Children's Hospital; Brisbane Australia
• Wassmer, Evangeline Department of Paediatric Neurology; Birmingham Children's Hospital; Birmingham UK
• Webb, Hannah J. Child Development Centre; St Luke's Hospital; Bradford Teaching Hospitals NHS Trust; Bradford UK
• Whitehouse, William P. School of Medicine; University of Nottingham; Nottingham UK
• Whitney, Robyn N. Department of Pediatrics; Division of Pediatric Neurology; McMaster Children's Hospital; McMaster University; Ontario Canada
• Zaki, Maha S. Clinical Genetics Department, Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt
• Zuberi, Sameer M. School of Medicine; College of Medical, Veterinary & Life Sciences; University of Glasgow; Glasgow UK
• Livingston, John H. Department of Paediatric Neurology; Leeds General Infirmary; Leeds UK
• Rozenberg, Flore AP-HP Hôpital Cochin; Paris France
• Lebon, Pierre Service de Virologie; Université Paris Descartes; Inserm U1016; Paris France
• Vanderver, Adeline Department of Neurology & Center for Genetic Medicine Research, George Washington University School of Medicine; Children's National Health System; Washington District of Columbia
• Orcesi, Simona Child Neurology and Psychiatry Unit; C. Mondino National Neurological Institute; Pavia Italy
• Rice, Gillian I. Manchester Centre for Genomic Medicine; Institute of Human Development, Faculty of Medical and Human Sciences; Manchester Academic Health Sciences Centre; University of Manchester; Manchester UK

Genetics(clinical)

Genetics