부산대학교 도서관

Civit A; Genetics Department, Tours University Hospital, Tours, France.; Kerbellec L; Genetics Department, Tours University Hospital, Tours, France.; Laurenceau D; Genetics Department, Tours University Hospital, Tours, France.; Ung DC; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Moizard MP; Genetics Department, Tours University Hospital, Tours, France.; Ronce N; Genetics Department, Tours University Hospital, Tours, France.; Gueguen P; Genetics Department, Tours University Hospital, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Laumonnier F; Genetics Department, Tours University Hospital, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Bréhin AC; Department of Anatomy and Pathological Cytology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Marguet F; Department of Anatomy and Pathological Cytology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Laquerrière A; Univ Rouen Normandie, INSERM U1245, Team Epigenetics and Pathophysiology of Neurodevelopmental Disorders and Department of Pathology, Rouen University Hospital, Rouen, France.; Bergemer Fouquet AM; Department of Anatomy and Pathological Cytology, Tours University Hospital, University of Tours, France.; Cirier J; Department of Gynecology, Bourges Hospital, Bourges, France.; Blesson S; Genetics Department, Tours University Hospital, Tours, France.; Arpin S; Genetics Department, Tours University Hospital, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Jeanne M; Genetics Department, Tours University Hospital, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Vuillaume ML; Genetics Department, Tours University Hospital, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Cuinat S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France. silvestre.cuinat@inserm.fr.; Inserm UMR 1087/CNRS UMR 6291, Institut du Thorax, Nantes Université, Nantes, France. silvestre.cuinat@inserm.fr.; Rouaud T; Service de Neurologie, CHU de Nantes, Nantes, France.; Besnard T; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Inserm UMR 1087/CNRS UMR 6291, Institut du Thorax, Nantes Université, Nantes, France.; Bézieau S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Inserm UMR 1087/CNRS UMR 6291, Institut du Thorax, Nantes Université, Nantes, France.; Bordure P; Service d'ORL, CHU de Nantes, Nantes, France.; Espitalier F; Service d'ORL, CHU de Nantes, Nantes, France.; Viakhireva-Dovganyuk I; Service de Neurologie, CHU de Brest, Brest, France.; Verloes A; Service de Génétique Clinique, APHP Robert Debré, Paris, France.; Vuillaume ML; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Khiati S; MitoVasc Institute, Angers University, UMR CNRS 6015, INSERM U1083, Angers, France.; Procaccio V; MitoVasc Institute, Angers University, UMR CNRS 6015, INSERM U1083, Angers, France.; Département de Génétique, CHU d'Angers, Angers, France.; Mercier S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Inserm UMR 1087/CNRS UMR 6291, Institut du Thorax, Nantes Université, Nantes, France.

Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

Cordovado A; Imaging Brain and Neuropsychiatry, iBraiN U1253, INSERM, University of Tours, Tours, France.; Hérenger Y; Genetica AG, Human Genetics and Genetic Counselling Unit, Zurich, Switzerland.; Cormier C; Genetic Center, Rare Diseases Reference Center On Developmental Anomalies and Malformative Syndromes, FHU TRANSLAD, University Hospital, Dijon, France.; López-Martín E; Institute of Rare Disease Research, Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Stamberger H; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Faivre L; Genetic Center, Rare Diseases Reference Center On Developmental Anomalies and Malformative Syndromes, FHU TRANSLAD, University Hospital, Dijon, France.; INSERM, Unit 1231 GAD Team, Burgundy University, Dijon, France.; Denommé-Pichon AS; Genetic Center, Rare Diseases Reference Center On Developmental Anomalies and Malformative Syndromes, FHU TRANSLAD, University Hospital, Dijon, France.; INSERM, Unit 1231 GAD Team, Burgundy University, Dijon, France.; Medical Genomics Laboratory, FHU TRANSLAD, University Hospital, Dijon, France.; Vitobello A; INSERM, Unit 1231 GAD Team, Burgundy University, Dijon, France.; Medical Genomics Laboratory, FHU TRANSLAD, University Hospital, Dijon, France.; Abdallah HH; Rare Diseases Genomic Medicine Department, Necker-Enfants Malades University Hospital, Paris, France.; Barcia G; Rare Diseases Genomic Medicine Department, Necker-Enfants Malades University Hospital, Paris, France.; Courtin T; Rare Diseases Genomic Medicine Department, Necker-Enfants Malades University Hospital, Paris, France.; Martínez-Delgado B; Institute of Rare Disease Research, Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Bermejo-Sánchez E; Institute of Rare Disease Research, Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Barrero MJ; Institute of Rare Disease Research, Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Gasser B; Medical Affairs, Ambry Genetics, Aliso Viejo, California, USA.; Bezieau S; Medical Genetics Department, University Hospital, Nantes, France.; Thorax Institute Research Unit, INSERM, CNRS, Nantes University, Nantes, France.; Küry S; Medical Genetics Department, University Hospital, Nantes, France.; Thorax Institute Research Unit, INSERM, CNRS, Nantes University, Nantes, France.; Weckhuysen S; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Laumonnier F; Imaging Brain and Neuropsychiatry, iBraiN U1253, INSERM, University of Tours, Tours, France.; Genetics Department, University Hospital of Tours, Tours, France.; Toutain A; Imaging Brain and Neuropsychiatry, iBraiN U1253, INSERM, University of Tours, Tours, France.; Genetics Department, University Hospital of Tours, Tours, France.; Vuillaume ML; Imaging Brain and Neuropsychiatry, iBraiN U1253, INSERM, University of Tours, Tours, France.; Genetics Department, University Hospital of Tours, Tours, France.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Civit A; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; Ronce N; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; Cogné B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Besnard T; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Laurenceau D; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; Hubert C; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; Moizard MP; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; Gueguen P; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; UMR 1253, iBrain, Université de Tours, INSERM, Tours, France.; Toutain A; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; UMR 1253, iBrain, Université de Tours, INSERM, Tours, France.; Vuillaume ML; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; UMR 1253, iBrain, Université de Tours, INSERM, Tours, France.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Sharkia R; Unit of Human Biology and Genetics, The Triangle Regional Research and Development Center, Kafr Qari 3007500, Israel.; Unit of Natural Sciences, Beit-Berl Academic College, Beit-Berl 4490500, Israel.; Vuillaume ML; Genetics Department, Tours University Hospital, 37044 Tours, France.; INSERM, Imaging Brain & Neuropsychiatry iBraiN U12523, University of Tours, 37032 Tours, France.; Jain S; Bioinformatics Centre, Dr. D.Y. Patil Biotechnology and Bioinformatics Institute, Dr. D.Y. Patil Vidyapeeth, Pune 411033, India.; Mahajnah M; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109600, Israel.; Child Neurology and Development Center, Hillel Yaffe Medical Center, Hadera 3810000, Israel.; Stoeva R; Department of Medical Genetics, Le Mans Hospital, 72037 Le Mans, France.; Guichet A; Genetics Department CHU 4 Rue Larrey, 49933 Angers, France.; Miotvasc, UMR CNRS 6015, INSERM U1083, Angers University, 49933 Angers, France.; Colin E; Genetics Department CHU 4 Rue Larrey, 49933 Angers, France.; Miotvasc, UMR CNRS 6015, INSERM U1083, Angers University, 49933 Angers, France.; Champ J; SeqOIA Laboratory, FMG2025, 75014 Paris, France.; Derive N; SeqOIA Laboratory, FMG2025, 75014 Paris, France.; Chefdor A; Department of Pediatrics, Le Mans Hospital, 72037 Le Mans, France.; Zalan A; Unit of Human Biology and Genetics, The Triangle Regional Research and Development Center, Kafr Qari 3007500, Israel.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Symonds JD; Paediatric Neurosciences Research Group, School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; Royal Hospital for Children, Glasgow, UK.; Park KL; Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Aurora, Colorado, USA.; Mignot C; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau, Sorbonne Université, Paris, France.; Macleod S; Royal Hospital for Children, Glasgow, UK.; Armstrong M; UCB Pharma, Braine l'Alleud, Belgium.; Ashrafian H; Division of Cardiovascular Medicine, John Radcliffe Hospital, Oxford, UK.; Department of Experimental Therapeutics, Radcliffe Department of Medicine, John Radcliffe Hospital, Oxford, UK.; Bernard G; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada.; Department Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.; Child Health and Human Development Program, Research, Institute of the McGill University Health Centre, Montreal, Quebec, Canada.; Brown K; Department of Pediatrics, Section of Genetics and Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.; Brunklaus A; Paediatric Neurosciences Research Group, School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; Royal Hospital for Children, Glasgow, UK.; Callaghan M; Department of Paediatrics, University Hospital Wishaw, Wishaw, UK.; Classen G; Children's Center Bethel, University Bielefeld, Bielefeld, Germany.; Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Cutcutache I; UCB Pharma, Slough, UK.; de Sainte Agathe JM; Department of Genetics, Pitié-Salpêtrière Hospital, APHP. Sorbonne Université, Paris, France.; Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Elliot KS; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Isapof A; Service de Neuropédiatrie, Hôpital Trousseau, Sorbonne Université, Paris, France.; Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK.; Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, APHP. Sorbonne Université, Paris, France.; Marble M; Division of Pediatric Genetics, Department of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA.; McTague A; Developmental Neurosciences. Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, UK.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Page M; UCB Pharma, Slough, UK.; Planes M; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Université Brest, Brest, France.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Université Brest, Brest, France.; Reese J; Presbyterian Healthcare System, Albuquerque, New Mexico, USA.; Saenz M; Department of Pediatrics, Section of Genetics and Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.; Smith-Hicks C; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Stobo D; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK.; Stockhaus C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Vuillaume ML; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; UMR 1253, iBrain, University of Tours, Tours, France.; Genetics Department, University of Tours, Tours, France.; Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma's Children's Hospital, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands.; Wakeling EL; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Yoon G; Departments of Paediatrics and Molecular Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.; Knight JC; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Zuberi SM; Paediatric Neurosciences Research Group, School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; Royal Hospital for Children, Glasgow, UK.

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

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JC; Redondo, L; Sanchez, VS; Fernandez, CM; Mata, MP; Lemos, MDR; Bosca, M; Burguera, JA; Vilaplana, FCBCP; Solis, P; Figuerola, BJ; Palanca, PM; Berglund, P; Constantinescu, R; Fredlund, G; Hosterey-Ugander, U; Linnsand, P; Neleborn-Lingefjard, L; Wahlstrom, J; Palhagen, S; Svenningsson, P; Paucar, M; Wallden, T; Ekwall, C; Goller, ML; Sundblom, J; Stebler, Y; Kaelin, A; Romero, I; Schupbach, M; Zaugg, SW; Jung, H; Petersen, J; Auer, M; Mihaylova, V; Vernon, N; Akhtar, S; Crooks, J; Curtis, A; de Souza, J; Piedad, J; Rickards, H; Wright, J; Pallett, A; Coulthard, E; Gethin, L; Hayward, B; Sieradzan, K; Wright, A; Busse, M; Butcher, C; Dunnett, S; Clenaghan, C; Hunt, S; Jones, L; Jones, U; Khalil, H; Minster, S; Owen, M; Price, K; Townhill, J; Rosser, A; Edwards, M; Ho, C; McGill, M; Porteous, M; Pearson, P; Harrower, T; Irvine, S; Brockie, P; Foster, J; Johns, N; McKenzie, S; Rothery, J; Thomas, G; Yates, S; Deith, C; Ireland, J; Ritchie, S; Andrew, A; Frost, J; Noad, R; Cosgrove, J; Gallantree, D; Hamer, S; Hobson, E; Jamieson, S; Kraus, A; Longthorpe, M; Markova, I; Musgrave, H; Peacy, C; Raman, A; Rowett, L; Toscano, J; Wild, S; Yardumian, P; Clayton, C; Dipple, H; Freire-Patino, D; Hallam, C; Middleton, J; Alusi, S; Davies, R; Foy, K; Gerrans, E; Leggett, H; Pate, L; Anjum, U; Coebergh, J; Eddy, C; McEntagart, M; Patton, M; Peterson, M; Rose, S; Andrews, T; Brown, S; Bruno, S; Doherty, K; Golding, C; Haider, S; Hensman, D; Lahiri, N; Lewis, M; Novak, M; Patel, A; Robertson, N; Rosser, E; Tabrizi, S; Taylor, R; Warner, T; Wild, E; Arran, N; Bek, J; Callaghan, J; Craufurd, D; Fullam, R; Howard, L; Huson, S; Johnson, L; Jones, M; Krishnamoorthy, A; Murphy, H; Oughton, E; Partington-Jones, L; Rogers, D; Sollom, A; Snowden, J; Stopford, C; Thompson, J; Tinkler, P; Trender-Gerhard, I; Verstraelen, N; Westmoreland, L; Cass, G; Davidson, L; Davison, J; Fullerton, N; Holmes, K; Komati, S; McDonnell, S; Mohammed, Z; Morgan, K; Savage, L; Singh, B; Wood, J; Chu, E; Knight, C; O'Neill, M; Das Purkayastha, D; Nemeth, AH; Siuda, G; Valentine, R; Dixon, K; Armstrong, R; Harrison, D; Hughes, M; Large, S; Donovan, JO; Palmer, A; Parkinson, A; Soltysiak, B; Timings, L; Williams, J; Burn, J; Weekes, R; Craven, J; Bailey, W; Coleman, C; Haig-Brown, D; Simpson, S; Hare, M; Majeed, T; Bandmann, O; Bradbury, A; Fairtlough, H; Fillingham, K; Foustanos, I; Gill, P; Kazoka, M; Nevitt, L; Peppa, N; Quarrell, O; Taylor, C; Tidswell, K; O'Donovan, K; Agarwal, V; Anderson, M; Gunner, K; Harris, K; Hayward, E; Heywood, M; Keys, L; Kipps, C; MacKinnon, L; Smalley, S; Gowers, L; Powell, K; Bethwaite, P; Edwards, R; Fuller, K; Phillips, M; Tan, L; Burgunder, JM; Lau, PN; Pica, E; Shoulson, I; Gusella, JG; Antonijevic, I; vankammen, D; Foroud, T; Warner, J; Giuliano, J; Vetter, L; Marshall, F; Marder, K; Frucht, S; Moskowitz, C; Clouse, R; Wasserman, P; Shannon, K; Jaglin, J; Jankovic, J; Palao, A; Harrison, M; Singer, C; Quesada, M; Hersch, S; Rosas, D; Tanev, K; Malarick, K; Colcher, A; Sanchez-Ramos, J; Kostyk, S; Paulsen, J; Perlmutter, J; Tabbal, S; Ross, C; Dorsey, R; Nucifora, F; Dubinsky, R; Dubinsky, H; Suchowersky, O; Klimek, ML; Jones, R; Morgan, J; Mohlo, E; Kang, U; Agarwal, P; Factor, S; Jennings, D; Higgins, D; Adams, J; Frank, S; Saint-Hilaire, M; Diggin, M; Furtado, S; Walker, F; O'Neill, C; Quaid, K; LeDoux, M; Raymond, L; Leavitt, B; Decolongon, J; Perlman, S; Peavy, G; Goldstein, J; Kumar, R; McCusker, E; Griffith, J; Loy, C; Wheelock, V; Tempkin, T; Martin, A; Nance, M; Mallonee, W; Suter, G; Revilla, F; Gartner, M; Drazinic, C; Fitzpatrick, MJ; Panisset, M; Duff, K; Scott, B; Weiner, W; Robottom, B; Chiu, E; Yastrubetskaya, O; Churchyard, A; Greenamyre, TJ; Oakes, D; Beck, C; Robertson, S; Eaton, K; Lindsay, P; Deuel, L; MacDonald, M; Hickey, C; Muratori, L; Leserman, A; Doucette, N; Uc, E; Rodnitzky, R; Vik, S; Davis, R; Dietrich, S; Segro, V; Erickson, D; Hunt, V; Lucarelli, N; Broyles, J; Delarosa, J; Louis, E; Panegyres, P; Schmidt, A; Barton, S; Sperin, E; Testa, C; Thiede, F; Zauber, SE; McInnis, R; Welsh, C; Wesson, M; Coleman, A

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)

Hubers AA; van Duijn E; Roos RA; Craufurd D; Rickards H; Bernhard Landwehrmeyer G; van der Mast RC; Giltay EJ; Bachoud Lévi AC; Bentivoglio AR; Biunno I; Bonelli RM; Burgunder JM; Dunnett SB; Ferreira JJ; Handley OJ; Heiberg A; llmann TI; Landwehrmeyer GB; Levey J; Ramos Arroyo MA; Nielsen JE; ProKoivisto S; Päivärinta M; Rojo Sebastián A; Tabrizi SJ; Vandenberghe W; Verellen Dumoulin C; Zaremba J; Uhrova T; Wahlström J; Barth K; Correia Guedes L; Finisterra AM; Garde MB; Bos R; Betz S; Callaghan J; Fullam R; Ecker D; Nielsen MG; Hvalstedt C; Held C; Koppers K; Laurà M; Horta SM; Descals AM; Mestre T; Minster S; Monza D; Mütze L; Oehmen M; Townhill J; Orth M; Padieu H; Paterski L; Peppa N; Pro Koivisto S; Roedig V; Rialland A; Røren N; Šašinková P; Seliverstov Y; Cubillo PT; Walsem MR; Wright A; da Silva WV; Witjes Ané MN; Yudina E; Zielonka D; Zielonka E; Zinzi P; Herranhof B; Holl A; Kapfhammer HP; Koppitz M; Magnet M; Otti D; Painold A; Reisinger K; Scheibl M; Hecht K; Lilek S; Müller N; Schöggl H; Ullah J; Brugger F; Hepperger C; Hotter A; Seppi K; Wenning G; Buratti L; Hametner EM; Holas C; Hussl A; Poewe W; Braunwarth EM; Sprenger F; Müller C; Sinadinosa D; Walleczek AM; Ladurner G; Staffen W; Flamez A; Morez V; de Raedt S; Boogaerts A; van Reijen D; Klempíř J; Majerová V; Roth J; Hartikainen P; Hiivola H; Martikainen K; Tuuha K; Ignatius J; Kärppä M; Åman J; Mustonen A; Kajula O; Santala M; Allain P; Guérid MA; Gohier B; Olivier A; Prundean A; Scherer Gagou C; Verny C; Bost M; Babiloni B; Debruxelles S; Duché C; Goizet C; Lafoucrière D; Jameau L; Spampinato U; De Bruycker C; Cabaret M; Carette AS; Defebvre L; Decorte E; Delval A; Delliaux M; Destee A; Dujardin K; Peter M; Plomhouse L; Sablonnière B; Simonin C; Lemaire MH; Manouvrier S; Thibault Tanchou S; Vuillaume I; Krystkowiak P; Duru C; Roussel M; Wannepain S; Berrissoul H; Bellonet M; Courtin F; Mantaux B; Fasquel V; Godefroy O; Azulay JP; Fluchère F; Delfini M; Eusebio A; Mundler L; Longato N; Rudolf G; Steinmetz G; Tranchant C; Wagner C; Zimmermann M; Marcel C; Calvas F; Pariente J; Démonet JF; Cheriet S; Kosinski CM; Milkereit E; Probst D; Reetz K; Sass C; Schiefer J; Schlangen C; Werner CJ; Gelderblom H; Priller J; Prüß H; Spruth EJ; Andrich J; Ellrichmann G; Hoffmann R; Kaminski B; Saft C; Stamm C; Lange H; Bosredon C; Maass A; Schmidt S; Storch A; Wolz M; Kohl Z; Winkler J; Capetian P; Lambeck J; Zucker B; Boelmans K; Ganos C; Goerendt I; Hidding U; Lewerenz J; Münchau A; Schmalfeld J; Stubbe L; Zittel S; Diercks G; Dressler D; Gorzolla H; Schrader C; Tacik P; Heinicke W; Longinus B; Bürk K; Möller JC; Rissling I; Mühlau M; Peinemann A; Städtler M; Weindl A; Winkelmann J; Ziegler C; Bohlen S; Hölzner E; Reilmann R; Dose M; Leythaeuser G; Marquard R; Raab T; Schrenk C; Schuierer M; Buck A; Connemann J; Eschenbach C; Landwehrmeyer B; Lezius F; Nepper S; Niess A; Schwenk D; Süßmuth S; Trautmann S; Weydt P; Cormio C; Sciruicchio V; Serpino C; Tommaso M; Capellari S; Cortelli P; Gallassi R; Poda R; Rizzo G; Scaglione C; Bertini E; Ghelli E; Ginestroni A; Massaro F; Mechi C; Paganini M; Piacentini S; Pradella S; Romoli AM; Sorbi S; Abbruzzese G; di Poggio MB; Di Maria E; Ferrandes G; Mandich P; Marchese R; Albanese A; Di Bella D; Di Donato S; Gellera C; Genitrini S; Mariotti C; Nanetti L; Paridi D; Soliveri P; Tomasello C; De Michele G; Di Maio L; Salvatore E; Rinaldi C; Rossi F; Massarelli M; Roca A; Ammendola S; Russo CV; Squitieri F; Elifani F; Maglione V; Di Pardo A; Alberti S; Griguoli A; Amico E; Martino T; Petrollini M; Catalli C; Di Giacopo R; Fasano A; Frontali M; Guidubaldi A; Ialongo T; Jacopini G; Loria G; Piano C; Chiara P; Quaranta D; ROMANO, SILVIA; Soleti F; Spadaro M; Romano S; van Hout MS; van Vugt JP; Weert A; Bolwijn J; Dekker M; Leenders K; Kremer HP; Dumas EM; van den Bogaard SJ; 't Hart EP; Økland E; Hauge E; Tyvoll H; Frich J; Aaserud O; Wehus R; Bjørgo K; Fannemel M; Gørvell P; Lorentzen E; Koivisto SP; Retterstøl L; Overland T; Stokke B; Sando B; Dziadkiewicz A; Nowak M; Robowski P; Sitek E; Slawek J; Soltan W; Szinwelski M; Blaszcyk M; Boczarska Jedynak M; Ciach Wysocka E; Gorzkowska A; Jasinska Myga B; Opala G; Kłodowska Duda G; Stompel D; Banaszkiewicz K; Boćwińska D; Szczudlik A; Rudzińska M; Wójcik M; Dec M; Krawczyk M; Jaremek KB; Szczygieł E; Stenwak A; ielewska AW; Bryl A; Ciesielska A; Klimberg A; Marcinkowski J; Sempołowicz J; Samara H; Wiśniewski B; Janik P; Gogol A; Kwiecinski H; Jamrozik Z; Kaminska A; Antczak J; Jachinska K; Rakowicz M; Richter P; Rola R; Ryglewicz D; Sienkiewicz Jarosz H; Stępniak I; Witkowski G; Zdzienicka E; Sułek A; Krysa W; Zieora Jakutowicz K; Júlio F; Januário C; Coelho M; Mendes T; Valadas A; Timóteo Â; Costa C; Cavaco S; Damásio J; Loureiro R; Magalhães M; Andrade C; Gago M; Garrett C; Guerra MR; Lima J; Massano J; Meireles J; Herrera CD; Garcia PM; Barrero F; Morales B; Cubo E; Mariscal N; Sánchez J; Alonso Frech F; Perez MR; Fenollar M; García RG; Quiroga PP; Rivera SV; Villanueva C; Alegre J; Bascuñana M; Caldentey JG; Ventura MF; Ribas GG; Yébenes JG; López Sendón Moreno JL; García Ruíz PJ; Martínez Descals A; Artiga MJ; Sánchez V; Guerrero R; Bárcenas AH; Noguera Perea MF; Fortuna L; Martirio M; Torres A; Reinante G; Moreau LV; Barbera MA; Guia DB; Hernanz LC; Catena JL; Sebastián AR; Ferrer PQ; Carruesco GT; Bas J; Busquets N; Calopa M; Elorza MD; Díez AjaLópez C; Terol SD; Robert MF; Ruíz BG; Casado AG; Martínez IH; Viladrich CM; Càrdenas RP; Roca E; Llesoy JR; Idiago JM; Vergara MR; García SS; Riballo AV; González SG; Guisasola LM; Salvador C; San Martín ES; González M; Gorospe A; Legarda I; Arques PN; Torres Rodríguez MJ; Vives B; Gaston I; Martinez Jaurrieta MD; Manuel J; Moreno G; Peña JC; Avarvarei LD; Bastida AM; Recio MF; Vergé LR; Sánchez VS; Carrillo F; Cáceres MT; Mir P; Suarez MJ; Bosca M; Burguera JA; Garcia AC; Brugada FC; Martínez LM; Val JL; Loutfi G; Olofsson C; Stattin EL; Westman L; Wikström B; lhagen SE; Paucar M; Svenningsson P; Reza Soltani TW; Höglund A; Sandström B; Høsterey Ugander U; Fredlund G; Constantinescu R; Neleborn Lingefjärd L; Tedr off J; Esmaeilzadeh M; Winnberg E; Pålhagen S; Svennigsson P; Riza Soltani TW; Sundblom J; Johansson A; Wiklund L; Ekwall C; Göller ML; Petersén A; Reimer J; Widner H; Stebler Y; Kaelin A; Romero I; Schüpbach M; Weber S; Miedzybrodzka Z; Rae D; Downie L; Simpson S; Summers F; Ure A; Jack R; Matheson K; Akhtar S; Crooks J; Curtis A; Souza J; Wright J; Hayward B; Sieradzan K; Barker RA; O'Keefe D; Di Pietro A; Fisher K; Hill S; Mason S; Swain R; Valle N; Guzman; Bisson J; Busse M; Butcher C; Clenaghan C; Dunnett S; Handley O; Hunt S; Hughes A; Johnstone C; Jones L; Jones U; Khalil H; Owen M; Price K; Rose LE; Rosser A; Porteous M; Edwards M; Ho C; McGill M; Pearson P; Brockie P; Foster J; Johns N; McKenzie S; Rothery J; Thomas G; Yates S; Miller J; Ritchie S; Burrows L; Fletcher A; Harding A; Laver F; Silva M; Thomson A; Rowett L; Gallantrae D; Longthorpe M; Markova I; Raman A; Hamer S; Wild S; Yarduiman P; Chu C; Kraus A; Yardumian P; Musgrave H; Toscano J; Jamieson S; Hobson E; Clayton C; Dipple H; Middleton J; Freire Patino D; Andrews T; Dougherty A; Kavalier F; Golding C; Laing H; Lashwood A; Robertson D; Ruddy D; Whaite A; Santhouse A; Patton M; Peterson M; Rose S; Bruno S; Chu E; Doherty K; Haider S; Hensman D; Lahiri N; Lewis M; Novak M; Patel A; Robertson N; Rosser E; Tabrizi S; Taylor R; Warner T; Wild E; Howard L; Sollom A; Snowden J; Thompson J; Jones M; Murphy H; Trender Gerhard I; Rogers D; Bek J; Oughton E; Johnson L; Hare M; Arran N; Verstraelen N; Partington Jones L; Huson S; Stopford C; Westmoreland L; Davidson J; Morgan K; Savage L; Singh B; Komati S; Nemeth AH; Armstrong R; Valentine R; Siuda G; Harrison D; Hughes M; Parkinson A; Soltysiak B; Burn J; Coleman C; Bandmann O; Bradbury A; Gill P; Fairtlough H; Fillingham K; Foustanos I; Kazoka M; O'Donovan K; Taylor C; Tidswell K; Quarrell O.

Hubers, A A M, Bernhard Landwehrmeyer, G, van der Mast, R C, Giltay, E J, Bachoud-Lévi, A-C, Bentivoglio, A R, Biunno, I, Bonelli, R M, Burgunder, J-M, Dunnett, S B, Ferreira, J J, Handley, O J, Heiberg, A, llmann, T I, Landwehrmeyer, G B, Levey, J, Ramos-Arroyo, M A, Nielsen, J E, ProKoivisto, S, Päivärinta, M, Roos, R A C, Rojo Sebastián, A, Tabrizi, S J, Vandenberghe, W, Verellen-Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Barth, K, Correia-Guedes, L, Finisterra, A M, Garde, M B, Bos, R, Betz, S, Callaghan, J, Fullam, R, Ecker, D, Nielsen, M G, Hvalstedt, C, Held, C, Koppers, K, Laurà, M, Horta, S M, Descals, A M, Mestre, T, Minster, S, Monza, D, Mütze, L, Oehmen, M, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Roedig, V, Rialland, A, Røren, N, Šašinková, P, Seliverstov, Y, Cubillo, P T, Walsem, M R, Wright, A, da Silva, W V, Witjes-Ané, M-N, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Bonelli, R M, Herranhof, B, Holl, A, Kapfhammer, H-P, Koppitz, M, Magnet, M, 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Cordovado A; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Schaettin M; Department of Molecular Life Sciences, Neuroscience Center Zurich, University of Zurich, Zurich 8057, Switzerland.; Jeanne M; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France.; Panasenkava V; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Denommé-Pichon AS; Functional Unit in Innovative Genomic Diagnosis of Rare Diseases, FHU-TRANSLAD, Dijon-Bourgogne University Hospital, Dijon 21079, France.; UMR1231 GAD, INSERM - Bourgogne-Franche Comté University, Dijon 21000, France.; Keren B; Genetics Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris 75651, France.; Mignot C; Genetics Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris 75651, France.; Doco-Fenzy M; University Hospital Reims, AMH2, Genetics Division, SFR CAP santé EA3801, Reims 51100, France.; Rodan L; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012, USA.; Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012, USA.; Jones JR; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.; Prijoles EJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Mitchell WG; Neurology Division, Keck School of Medicine, University of Southern California, Children's Hospital Los Angeles, CA 90027, USA.; Ozmore JR; Dartmouth Hitchcock Medical Center, Lebanon, NH 03766, USA.; Juliette K; Neurology Department, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA.; Torti E; GeneDx, Gaithersburg, MD 20877, USA.; Normand EA; GeneDx, Gaithersburg, MD 20877, USA.; Granger L; Genetics Division, Department of Pediatric Development and Rehabilitation, Randall Children's Hospital, Portland, OR 97227, USA.; Petersen AK; Genetics Division, Department of Pediatric Development and Rehabilitation, Randall Children's Hospital, Portland, OR 97227, USA.; Au MG; Department of Genetics and Metabolism, University of Kentucky, Lexington, KY 40536, USA.; Matheny JP; Department of Genetics and Metabolism, University of Kentucky, Lexington, KY 40536, USA.; Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital, Providence, RI 02903, USA.; Chambers MK; Division of Genetics, Rhode Island Hospital, Hasbro Children's Hospital, Providence, RI 02903, USA.; Fernández-Ramos JA; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba 14004, Spain.; López-Laso E; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba 14004, Spain.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Zollino M; Università Cattolica Sacro Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Roma 00168, Italy.; Fondazione Policlinico A. Gemelli IRCCS, U. O. C. Genetica Medica, Roma 00168, Italy.; Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples 80078, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples 80138, Italy.; Marangi G; Università Cattolica Sacro Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Roma 00168, Italy.; Fondazione Policlinico A. Gemelli IRCCS, U. O. C. Genetica Medica, Roma 00168, Italy.; Mei D; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy.; Pisano T; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy.; Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy.; Louie RJ; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.; Childers A; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.; Everman DB; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.; Isidor B; Medical Genetics Service, Clinical Genetics Unit, University Hospital of Nantes, Hôtel Dieu, Nantes 44093, France.; Audebert-Bellanger S; Clinical Genetics Service, University Hospital of Brest, Morvan Hospital, Brest 29609, France.; Odent S; Clinical Genetics Service, University Hospital, Genetic and Development Institute of Rennes IGDR, UMR 6290 University of Rennes, ITHACA ERN, Rennes 35203, France.; Bonneau D; Department of Medical Genetics, University Hospital of Angers and Mitovasc INSERM 1083, CNRS 6015, Angers 49000, France.; Gilbert-Dussardier B; Medical Genetics, University Hospital, La Milétrie, BP 577, Poitiers 86021, France.; Redon R; INSERM, CNRS, UNIV Nantes, Thorax Institute, Nantes 44007, France.; Bézieau S; INSERM, CNRS, UNIV Nantes, Thorax Institute, Nantes 44007, France.; Medical Genetics Service, University Hospital of Nantes, Nantes 44093, France.; Laumonnier F; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Stoeckli ET; Department of Molecular Life Sciences, Neuroscience Center Zurich, University of Zurich, Zurich 8057, Switzerland.; Toutain A; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France.; Vuillaume ML; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Layo-Carris DE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Lubin EE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Sangree AK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Clark KJ; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Durham EL; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Gonzalez EM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Smith S; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Angireddy R; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Wang XM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Weiss E; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Toutain A; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Dupuis L; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Damseh N; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Velasco D; Children's Nebraska, University of Nebraska Medical Center, Omaha, NE, USA.; Valenzuela I; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Codina-Solà M; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Ziats C; Shodair Children's Hospital, Helena, MT, USA.; Have J; Shodair Children's Hospital, Helena, MT, USA.; Clarkson K; Greenwood Genetic Center, Greenwood, SC, USA.; Steel D; UCL Great Ormond Street Institute of Child Health, London, UK.; Kurian M; UCL Great Ormond Street Institute of Child Health, London, UK.; Barwick K; UCL Great Ormond Street Institute of Child Health, London, UK.; Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA.; Dagli AI; Orlando Health, Arnold Palmer Hospital For Children, Orlando, FL, USA.; Nowaczyk MJM; McMaster University Medical Centre, Hamilton, ON, Canada.; Hančárová M; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Bendová Š; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Prchalova D; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Sedláček Z; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Baxová A; Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic.; Nowak CB; Division of Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.; Douglas J; Harvard Medical School, Boston, MA, USA.; Chung WK; Harvard Medical School, Boston, MA, USA.; Boston Children's Hospital, Boston, MA, USA.; Longo N; University of Utah, Salt Lake City, UT, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Averdunk L; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.; Wieczorek D; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Balci T; University of Western Ontario, London, ON, Canada.; Simon M; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Kroes HY; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Wiesener A; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Vasileiou G; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Marinakis NM; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Veltra D; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Sofocleous C; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Kosma K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Traeger Synodinos J; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Voudris KA; Second Department of Paediatrics, University of Athens, 'P & A Kyriakou' Children's Hospital, Athens, Greece.; Vuillaume ML; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Gueguen P; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Derive N; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Colin E; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Battault C; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Au B; University of Calgary, Calgary, AB, Canada.; Delatycki M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.; Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Majdoub F; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Smal N; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; NEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium.; Schoonjans AS; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Kooy RF; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium.; Meuwissen M; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium.; Cocanougher BT; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Taylor K; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA.; Pizoli CE; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA.; McDonald MT; Division of Medical Genetics, Duke University Hospital, Durham, NC, USA.; James P; DMG Children's Rehabilitative Services, Phoenix, AZ, USA.; Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Littlejohn R; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Borja NA; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; Thorson W; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; King K; Genetics Department, Mary Bridge Children's Hospital, Multicare Health System, Tacoma, WA, USA.; Stoeva R; Medical genetics department, Centre Hospitalier, Le Mans, France.; Suerink M; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Nibbeling E; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Baskin S; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; L E Guyader G; Service de Génétique médicale, Centre Labellisé Anomalies du Développement-Ouest Site, Poitiers, France.; Kaplan J; Nemours Children's Health, Wilmington, DE, USA.; Muss C; Nemours Children's Health, Wilmington, DE, USA.; Carere DA; GeneDx, Gaithersburg, MD, USA.; Bhoj EJK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@chop.edu.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. bhoje@chop.edu.; Bryant LM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Layo-Carris DE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Lubin EE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Sangree AK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Clark KJ; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Durham EL; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Gonzalez EM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Smith S; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Angireddy R; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Wang XM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Weiss E; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Toutain A; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Dupuis L; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Damseh N; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Velasco D; Children's Nebraska, University of Nebraska Medical Center, Omaha, NE, USA.; Valenzuela I; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Codina-Solà M; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Ziats C; Shodair Children's Hospital, Helena, MT, USA.; Have J; Shodair Children's Hospital, Helena, MT, USA.; Clarkson K; Greenwood Genetic Center, Greenwood, SC, USA.; Steel D; UCL Great Ormond Street Institute of Child Health, London, UK.; Kurian M; UCL Great Ormond Street Institute of Child Health, London, UK.; Barwick K; UCL Great Ormond Street Institute of Child Health, London, UK.; Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA.; Dagli AI; Orlando Health, Arnold Palmer Hospital For Children, Orlando, FL, USA.; Nowaczyk MJM; McMaster University Medical Centre, Hamilton, ON, Canada.; Hančárová M; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Bendová Š; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Prchalova D; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Sedláček Z; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Baxová A; Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic.; Nowak CB; Division of Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.; Douglas J; Harvard Medical School, Boston, MA, USA.; Chung WK; Harvard Medical School, Boston, MA, USA.; Boston Children's Hospital, Boston, MA, USA.; Longo N; University of Utah, Salt Lake City, UT, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Averdunk L; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.; Wieczorek D; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Balci T; University of Western Ontario, London, ON, Canada.; Simon M; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Kroes HY; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Wiesener A; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Vasileiou G; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Marinakis NM; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Veltra D; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Sofocleous C; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Kosma K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Synodinos JT; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Voudris KA; Second Department of Paediatrics, University of Athens, 'P & A Kyriakou' Children's Hospital, Athens, Greece.; Vuillaume ML; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Gueguen P; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Derive N; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Colin E; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Battault C; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Au B; University of Calgary, Calgary, AB, Canada.; Delatycki M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.; Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Majdoub F; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Smal N; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; NEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium.; Schoonjans AS; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Kooy RF; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium.; Meuwissen M; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium.; Cocanougher BT; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Taylor K; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA.; Pizoli CE; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA.; McDonald MT; Division of Medical Genetics, Duke University Hospital, Durham, NC, USA.; James P; DMG Children's Rehabilitative Services, Phoenix, AZ, USA.; Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Littlejohn R; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Borja NA; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; Thorson W; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; King K; Genetics Department, Mary Bridge Children's Hospital, Multicare Health System, Tacoma, WA, USA.; Stoeva R; Medical genetics department, Centre Hospitalier, Le Mans, France.; Suerink M; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Nibbeling E; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Baskin S; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Guyader GLE; Service de Génétique médicale, Centre Labellisé Anomalies du Développement-Ouest Site, Poitiers, France.; Kaplan J; Nemours Children's Health, Wilmington, DE, USA.; Muss C; Nemours Children's Health, Wilmington, DE, USA.; Carere DA; GeneDx, Gaithersburg, MD, USA.; Bhoj EJK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@chop.edu.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. bhoje@chop.edu.; Bryant LM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE; PubMed not MEDLINE

Halewa J; UMR1253, iBrain, INSERM, University of Tours, Tours, France.; Marouillat S; UMR1253, iBrain, INSERM, University of Tours, Tours, France.; Dixneuf M; UMR1253, iBrain, INSERM, University of Tours, Tours, France.; Thépault RA; UMR1253, iBrain, INSERM, University of Tours, Tours, France.; Ung DC; UMR1253, iBrain, INSERM, University of Tours, Tours, France.; Chatron N; Department of Genetics, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, CNRS UMR-5310, INSERM U-1217, Univ Lyon, Université Claude Bernard Lyon 1, Lyon, France.; Gérard B; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Ghoumid J; EA7364 RADEME, Clinique de Génétique Guy Fontaine, Université de Lille, CHU de Lille, Lille, France.; Lesca G; Department of Genetics, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, CNRS UMR-5310, INSERM U-1217, Univ Lyon, Université Claude Bernard Lyon 1, Lyon, France.; Till M; Department of Genetics, Hospices Civils de Lyon, Lyon, France.; Smol T; EA7364 RADEME, Institut de Génétique Médicale, Université de Lille, CHU de Lille, Lille, France.; Couque N; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Ruaud L; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; INSERM, UMR1141, Denis Diderot School of Medicine, Paris University, Paris, France.; Chune V; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Grotto S; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; INSERM, UMR1141, Denis Diderot School of Medicine, Paris University, Paris, France.; Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; INSERM, UMR1141, Denis Diderot School of Medicine, Paris University, Paris, France.; Vuillaume ML; UMR1253, iBrain, INSERM, University of Tours, Tours, France.; Service de Génétique, Centre hospitalier régional universitaire de Tours, Tours, France.; Toutain A; UMR1253, iBrain, INSERM, University of Tours, Tours, France.; Service de Génétique, Centre hospitalier régional universitaire de Tours, Tours, France.; Raynaud M; UMR1253, iBrain, INSERM, University of Tours, Tours, France.; Service de Génétique, Centre hospitalier régional universitaire de Tours, Tours, France.; Laumonnier F; UMR1253, iBrain, INSERM, University of Tours, Tours, France.; Service de Génétique, Centre hospitalier régional universitaire de Tours, Tours, France.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Jeanne M; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; UMR 1253, iBrain, University of Tours, Inserm, Tours, France.; Vuillaume ML; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; UMR 1253, iBrain, University of Tours, Inserm, Tours, France.; Ung DC; UMR 1253, iBrain, University of Tours, Inserm, Tours, France.; Vancollie VE; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, Hinxton, UK.; Wagner C; Centre National de la Recherche Scientifique, UMR 7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (Inserm), U 1258, Illkirch, France.; Université de Strasbourg, Illkirch, France.; Collins SC; Centre National de la Recherche Scientifique, UMR 7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (Inserm), U 1258, Illkirch, France.; Université de Strasbourg, Illkirch, France.; Vonwill S; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; Haye D; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; Chelloug N; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Kummeling J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Moizard MP; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; Marouillat S; UMR 1253, iBrain, University of Tours, Inserm, Tours, France.; Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Yalcin B; Centre National de la Recherche Scientifique, UMR 7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (Inserm), U 1258, Illkirch, France.; Université de Strasbourg, Illkirch, France.; Laumonnier F; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France. frederic.laumonnier@inserm.fr.; UMR 1253, iBrain, University of Tours, Inserm, Tours, France. frederic.laumonnier@inserm.fr.; Toutain A; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; UMR 1253, iBrain, University of Tours, Inserm, Tours, France.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Abdelfattah F; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.; Kahlert AK; Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital Schleswig-Holstein, Kiel, Germany.; Morrison PJ; Centre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast, UK.; Gumus E; Division of Medical Genetics, School of Medicine, Harran University, Sanliurfa, Turkey.; Mathews KD; Carver College of Medicine, University of Iowa, Iowa City, Iowa.; Darbro BW; Carver College of Medicine, University of Iowa, Iowa City, Iowa.; Amor DJ; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.; Royal Children's Hospital, Parkville, Victoria, Australia.; Walsh M; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; Sznajer Y; Centre de Génétique Humaine, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, Belgium.; Weiß L; Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Weidensee S; Human Medical Genetics, Erfurt, Germany.; Chitayat D; Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for SickKids, University of Toronto, Toronto, Ontario, Canada.; Shannon P; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Bermejo-Sánchez E; ECEMC (Spanish Collaborative Study of Congenital Malformations), Research Unit on Congenital Anomalies (UIAC), Institute of Rare Diseases Research (IIER), Institute of Health Carlos III, Ministry of Science and Innovation, Madrid, Spain.; Riaño-Galán I; AGC de Pediatría, Hospital Universitario Central de Asturias, Oviedo, Spain.; IUOPA-Departamento de Medicina-ISPA, Universidad de Oviedo, Oviedo, Spain.; CIBER de Epidemiologia y Salud Pública, Madrid, Spain.; Hayes I; Genetic Health Service New Zealand, Auckland Hospital, Auckland, New Zealand.; Poke G; Genetic Health Service New Zealand, Wellington Regional Hospital, Wellington, New Zealand.; Rooryck C; MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, University of Bordeaux, Bordeaux, France.; Pennamen P; MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, University of Bordeaux, Bordeaux, France.; Khung-Savatovsky S; Unité de Fœtopathologie, Hôpital Universitaire Robert-Debré, Paris, France.; Toutain A; Service de Génétique, CHU de Tours, UMR 1253, iBrain, Université de Tours, INSERM, Tours, France.; Vuillaume ML; Service de Génétique, CHU de Tours, UMR 1253, iBrain, Université de Tours, INSERM, Tours, France.; Ghaderi-Sohi S; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.; Kariminejad MH; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.; Weinert S; Department of Cardiology and Angiology, Internal Medicine, University Hospital Magdeburg, Magdeburg, Germany.; Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Schanze D; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Bergougnoux A; Génétique Moléculaire, CHU Montpellier, Montpellier, France; PhyMedExp, INSERM, CNRS UMR, Montpellier, France; Université de Montpellier, Montpellier, France.; Billet A; Laboratoire STIM, Université de Poitiers, Poitiers, France.; Ka C; Service de génétique moléculaire, CHRU Brest, Brest, France; Université de Brest, Inserm, UMR 1078, GGB, Brest, France.; Heller M; Service de Médecine Génomique des Maladies de Système et d'Organe, APHP Centre - Université de Paris, Hôpital Cochin, Paris, France.; Degrugillier F; Université Paris-Est Créteil, INSERM, IMRB, Créteil F-94010, France.; Vuillaume ML; Génétique Moléculaire, CHU Bordeaux, Bordeaux, France.; Thoreau V; Laboratoire NEUVACOD-3808, Université de Poitiers, Poitiers, France.; Sasorith S; Génétique Moléculaire, CHU Montpellier, Montpellier, France; PhyMedExp, INSERM, CNRS UMR, Montpellier, France.; Bareil C; Génétique Moléculaire, CHU Montpellier, Montpellier, France.; Thèze C; Génétique Moléculaire, CHU Montpellier, Montpellier, France.; Ferec C; Université de Brest, Inserm, UMR 1078, GGB, Brest, France.; Gac GL; Service de génétique moléculaire, CHRU Brest, Brest, France; Université de Brest, Inserm, UMR 1078, GGB, Brest, France.; Bienvenu T; Service de Médecine Génomique des Maladies de Système et d'Organe, APHP Centre - Université de Paris, Hôpital Cochin, Paris, France.; Bieth E; Génétique Médicale, CHU Toulouse, Toulouse, France.; Gaston V; Génétique Médicale, CHU Toulouse, Toulouse, France.; Lalau G; Biochimie et Biologie Moléculaire, CHU Lille, Lille, France.; Pagin A; Biochimie et Biologie Moléculaire, CHU Lille, Lille, France.; Malinge MC; Biochimie et Génétique, CHU Angers, Angers, France.; Dufernez F; Génétique, CHU Poitiers, Poitiers, France.; Lemonnier L; Association Vaincre la Mucoviscidose, Paris, France.; Koenig M; Génétique Moléculaire, CHU Montpellier, Montpellier, France; PhyMedExp, INSERM, CNRS UMR, Montpellier, France; Université de Montpellier, Montpellier, France.; Fergelot P; MRGM, INSERM UMR 1211 Université de Bordeaux, Bordeaux, France.; Claustres M; Université de Montpellier, Montpellier, France.; Taulan-Cadars M; PhyMedExp, INSERM, CNRS UMR, Montpellier, France; Université de Montpellier, Montpellier, France.; Kitzis A; Génétique, CHU Poitiers, Poitiers, France.; Reboul MP; Génétique Moléculaire, CHU Bordeaux, Bordeaux, France.; Becq F; Laboratoire STIM, Université de Poitiers, Poitiers, France.; Fanen P; AP-HP, Département de Biochimie-Biologie Moléculaire, Pharmacologie, Génétique Médicale, Hôpital Henri Mondor, Créteil F-94010, France.; Mekki C; AP-HP, Département de Biochimie-Biologie Moléculaire, Pharmacologie, Génétique Médicale, Hôpital Henri Mondor, Créteil F-94010, France.; Audrezet MP; Service de génétique moléculaire, CHRU Brest, Brest, France; Université de Brest, Inserm, UMR 1078, GGB, Brest, France.; Girodon E; Service de Médecine Génomique des Maladies de Système et d'Organe, APHP Centre - Université de Paris, Hôpital Cochin, Paris, France; INSERM U1151, Institut Necker Enfants Malades, Université de Paris, Paris, France.; Raynal C; Génétique Moléculaire, CHU Montpellier, Montpellier, France; PhyMedExp, INSERM, CNRS UMR, Montpellier, France. Electronic address: caroline.raynal@inserm.fr.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101128966 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5010 (Electronic) Linking ISSN: 15691993 NLM ISO Abbreviation: J Cyst Fibros Subsets: MEDLINE

Tabet AC; 1Genetics Department, Robert Debré Hospital, APHP, Paris, France.; 2Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.; 3CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France.; 4Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Université Paris Diderot, Paris, France.; Rolland T; 2Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.; 3CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France.; 4Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Université Paris Diderot, Paris, France.; Ducloy M; 2Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.; 3CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France.; 4Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Université Paris Diderot, Paris, France.; Lévy J; 1Genetics Department, Robert Debré Hospital, APHP, Paris, France.; Buratti J; 2Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.; 3CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France.; 4Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Université Paris Diderot, Paris, France.; Mathieu A; 2Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.; 3CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France.; 4Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Université Paris Diderot, Paris, France.; Haye D; 1Genetics Department, Robert Debré Hospital, APHP, Paris, France.; Perrin L; 1Genetics Department, Robert Debré Hospital, APHP, Paris, France.; Dupont C; 1Genetics Department, Robert Debré Hospital, APHP, Paris, France.; Passemard S; 1Genetics Department, Robert Debré Hospital, APHP, Paris, France.; Capri Y; 1Genetics Department, Robert Debré Hospital, APHP, Paris, France.; Verloes A; 1Genetics Department, Robert Debré Hospital, APHP, Paris, France.; Drunat S; 1Genetics Department, Robert Debré Hospital, APHP, Paris, France.; Keren B; 5Cytogenetics Unit, Pitié Salpetrière Hospital, APHP, Paris, France.; Mignot C; 6Neurogenetics Unit, Pitié Salpetrière Hospital, APHP, Paris, France.; Marey I; 7Clinical Genetics Unit, Pitié Salpetrière Hospital, APHP, Paris, France.; Jacquette A; 7Clinical Genetics Unit, Pitié Salpetrière Hospital, APHP, Paris, France.; Whalen S; 7Clinical Genetics Unit, Pitié Salpetrière Hospital, APHP, Paris, France.; Pipiras E; 8Cytogenetics Unit, Jean Verdier Hospital, APHP, Bondy, France.; Benzacken B; 8Cytogenetics Unit, Jean Verdier Hospital, APHP, Bondy, France.; Chantot-Bastaraud S; 9Cytogenetics Unit, Trousseau Hospital, APHP, Paris, France.; Afenjar A; 10Clinical Genetics Unit, Trousseau Hospital, APHP, Paris, France.; Héron D; 10Clinical Genetics Unit, Trousseau Hospital, APHP, Paris, France.; Le Caignec C; 11Clinical Genetics Unit, Nantes Hospital, Nantes, France.; Beneteau C; 11Clinical Genetics Unit, Nantes Hospital, Nantes, France.; Pichon O; 11Clinical Genetics Unit, Nantes Hospital, Nantes, France.; Isidor B; 11Clinical Genetics Unit, Nantes Hospital, Nantes, France.; David A; 11Clinical Genetics Unit, Nantes Hospital, Nantes, France.; El Khattabi L; 12Cytogenetics Unit, Cochin Hospital, APHP, Paris, France.; Kemeny S; 13Genetics Unit, CHU Estaing, Clermont-Ferrand, France.; Gouas L; 13Genetics Unit, CHU Estaing, Clermont-Ferrand, France.; Vago P; 13Genetics Unit, CHU Estaing, Clermont-Ferrand, France.; Mosca-Boidron AL; Cytogenetics Unit, Dijon Hospital, Dijon, France.; Faivre L; Clinical Genetics Unit, Dijon Hospital, Dijon, France.; Missirian C; 16Genetics Unit, La Timone Hospital, Marseille, France.; Philip N; 16Genetics Unit, La Timone Hospital, Marseille, France.; Sanlaville D; Cytogenetics Unit, Lyon Civil Hospital, Lyon, France.; Edery P; Clinical Genetics Unit, Lyon Civil Hospital, Lyon, France.; Satre V; 19Cytogenetics Unit, Grenoble Hospital, Grenoble, France.; Coutton C; 19Cytogenetics Unit, Grenoble Hospital, Grenoble, France.; Devillard F; 19Cytogenetics Unit, Grenoble Hospital, Grenoble, France.; Dieterich K; 20Clinical Genetics Unit, Grenoble Hospital, Grenoble, France.; Vuillaume ML; 21Genetics Unit, Bordeaux Hospital, Bordeaux, France.; Rooryck C; 21Genetics Unit, Bordeaux Hospital, Bordeaux, France.; Lacombe D; 21Genetics Unit, Bordeaux Hospital, Bordeaux, France.; Pinson L; 22Genetics Unit, Montpellier Hospital, Montpellier, France.; Gatinois V; 22Genetics Unit, Montpellier Hospital, Montpellier, France.; Puechberty J; 22Genetics Unit, Montpellier Hospital, Montpellier, France.; Chiesa J; Genetics Unit, CHRU Nimes, Nimes, France.; Lespinasse J; Cytogenetics Unit, Chambéry-Hôtel-Dieu Hospital, Chambéry, France.; Dubourg C; 25Genetics Unit, CHU Rennes, Rennes, France.; Quelin C; 25Genetics Unit, CHU Rennes, Rennes, France.; Fradin M; 25Genetics Unit, CHU Rennes, Rennes, France.; Journel H; Genetics Unit, Chubert Hospital, Vannes, France.; Toutain A; 27Genetics Unit, Bretonneau Hospital, Tours, France.; Martin D; 28Genetics Unit, CH Le Mans, Le Mans, France.; Benmansour A; 1Genetics Department, Robert Debré Hospital, APHP, Paris, France.; Leblond CS; 2Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.; 3CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France.; 4Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Université Paris Diderot, Paris, France.; Toro R; 2Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.; 3CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France.; 4Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Université Paris Diderot, Paris, France.; Amsellem F; 29Department of Child and Adolescent Psychiatry, Robert Debré Hospital, APHP, Paris, France.; Delorme R; 2Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.; 3CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France.; 4Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Université Paris Diderot, Paris, France.; 29Department of Child and Adolescent Psychiatry, Robert Debré Hospital, APHP, Paris, France.; Bourgeron T; 2Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.; 3CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France.; 4Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Université Paris Diderot, Paris, France.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: eCollection Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Brun S; Centre Aliénor d'Aquitaine Maternity, CHU Bordeaux, Bordeaux, France.; Pennamen P; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Mattuizzi A; Centre Aliénor d'Aquitaine Maternity, CHU Bordeaux, Bordeaux, France.; Coatleven F; Centre Aliénor d'Aquitaine Maternity, CHU Bordeaux, Bordeaux, France.; Vuillaume ML; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Lacombe D; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Maladies Rares: Génétique et Métabolisme (MRGM), INSERM, University of Bordeaux, Bordeaux, France.; Arveiler B; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Maladies Rares: Génétique et Métabolisme (MRGM), INSERM, University of Bordeaux, Bordeaux, France.; Toutain J; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Rooryck C; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Maladies Rares: Génétique et Métabolisme (MRGM), INSERM, University of Bordeaux, Bordeaux, France.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn

Vuillaume ML; Moizard MP; Rossignol S; Cottereau E; Vonwill S; Alessandri JL; Busa T; Colin E; Gérard M; Giuliano F; Lambert L; Lefevre M; Kotecha U; Nampoothiri S; Netchine I; Raynaud M; Brioude F; Toutain A

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: PubMed not MEDLINE

Delaye JB; 1 CHRU de Tours, Laboratoire de Biochimie et Biologie Moléculaire, Tours, France.; Patin F; 1 CHRU de Tours, Laboratoire de Biochimie et Biologie Moléculaire, Tours, France.; 2 UMR 1253, Université de Tours, Tours, France.; Lagrue E; 2 UMR 1253, Université de Tours, Tours, France.; 3 CHRU de Tours, Service de Neuropédiatrie, Tours, France.; Le Tilly O; 1 CHRU de Tours, Laboratoire de Biochimie et Biologie Moléculaire, Tours, France.; Bruno C; 1 CHRU de Tours, Laboratoire de Biochimie et Biologie Moléculaire, Tours, France.; 2 UMR 1253, Université de Tours, Tours, France.; Vuillaume ML; 2 UMR 1253, Université de Tours, Tours, France.; 4 CHRU de Tours, Service de Génétique, Tours, France.; Raynaud M; 2 UMR 1253, Université de Tours, Tours, France.; 4 CHRU de Tours, Service de Génétique, Tours, France.; Benz-De Bretagne I; 1 CHRU de Tours, Laboratoire de Biochimie et Biologie Moléculaire, Tours, France.; 2 UMR 1253, Université de Tours, Tours, France.; Laumonnier F; 2 UMR 1253, Université de Tours, Tours, France.; 4 CHRU de Tours, Service de Génétique, Tours, France.; Vourc'h P; 1 CHRU de Tours, Laboratoire de Biochimie et Biologie Moléculaire, Tours, France.; 2 UMR 1253, Université de Tours, Tours, France.; Andres C; 1 CHRU de Tours, Laboratoire de Biochimie et Biologie Moléculaire, Tours, France.; 2 UMR 1253, Université de Tours, Tours, France.; Blasco H; 1 CHRU de Tours, Laboratoire de Biochimie et Biologie Moléculaire, Tours, France.; 2 UMR 1253, Université de Tours, Tours, France.

Publisher: Sage Country of Publication: England NLM ID: 0324055 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1758-1001 (Electronic) Linking ISSN: 00045632 NLM ISO Abbreviation: Ann Clin Biochem Subsets: MEDLINE

Vuillaume ML; Service de Génétique, CHU Bretonneau, Tours, France.; Unité INSERM U930, Université François Rabelais, Tours, France.; Moizard MP; Service de Génétique, CHU Bretonneau, Tours, France.; Unité INSERM U930, Université François Rabelais, Tours, France.; Hammouche E; Service de Génétique, CHU Bretonneau, Tours, France.; Delrue MA; Medical Genetics Division, CHU Sainte-Justine, Montreal, Canada.; Perrin L; Unité de Génétique Clinique, Département de Génétique, CHU Robert Debré, Paris, France.; Maftei C; Medical Genetics Division, CHU Sainte-Justine, Montreal, Canada.; Cytogenetic Laboratory, CHU Sainte-Justine, Montreal, Canada.; Dupont C; Unité Fonctionnelle de Cytogénétique, Département de Génétique, CHU Robert Debré, Paris, France.; Drunat S; UF de Génétique Moléculaire, Département de Génétique, CHU Robert Debré, Paris, France.; Cottereau E; Service de Génétique, CHU Bretonneau, Tours, France.; Baumann C; Unité de Génétique Clinique, Département de Génétique, CHU Robert Debré, Paris, France.; Toutain A; Service de Génétique, CHU Bretonneau, Tours, France.; Unité INSERM U930, Université François Rabelais, Tours, France.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE