부산대학교 도서관

Bresack B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.; Kohl LR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.; Afenjar A; Genetics Department, Reference Centre for Cerebellar Malformations and Congenital Diseases and Molecular Neurogenetics Laboratory, AP-HP, Sorbonne University - Armand-Trousseau Children's Hospital, Paris 75012, France.; Audic F; Neuropediatrics Service, AP-HM, CHU La Timone, Marseille 13005, France.; Burglen L; Genetics Department, Reference Centre for Cerebellar Malformations and Congenital Diseases and Molecular Neurogenetics Laboratory, AP-HP, Sorbonne University - Armand-Trousseau Children's Hospital, Paris 75012, France.; Charles P; Genetics Department, Reference Centre for Neurogenetics, AP-HP, Sorbonne University - Pitié Salpêtrière Hospital, Paris 75651, France.; Dundar NO; Department of Pediatric Neurology, Faculty of Medicine, Izmir Katip Celebi University, Izmir 35360, Türkiye.; van de Kamp J; Department of Human Genetics, Amsterdam UMC, Amsterdam 1081 BT, the Netherlands.; Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Magoulas P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Goze-Martineau O; Neuropediatrics Service, Reference Centre for Cerebellar Malformations and Congenital Diseases, CHU Lille - Roger Salengro Hospital, Lille 59000, France.; Motazacker M; Department of Human Genetics, Amsterdam UMC, Amsterdam 1081 BT, the Netherlands.; Philippi H; Center of Developmental Neurology, SPZ Frankfurt-Mitte, Frankfurt 60316, Germany.; Reyes A; CENTOGENE GmbH, Rostock 18055, Germany.; Tutakhel OAZ; Department of Human Genetics, Amsterdam UMC, Amsterdam 1081 BT, the Netherlands.; Bertoli-Avella A; CENTOGENE GmbH, Rostock 18055, Germany.; Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany. Electronic address: rami.aboujamra@medizin.uni-leipzig.de.; Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany. Electronic address: henry.oppermann@medizin.uni-leipzig.de.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Altay, Melek Firat; Gregor, Anne; Braun, Dominique; Rieubland, Claudine; Gautschi, Matthias; Perret Hoigné, Eveline; Schiller, Rike; Keren, Boris; Afenjar, Alejandra; Martinez-Agosto, Julian A.; Rosenfeld, Jill A.; Zweier, Christiane

European Journal of Human Genetics. 34(2):201-208

Werren EA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.; Rodriguez Bey G; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15213, USA.; Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.; Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.; Patil SJ; Division of Medical Genetics, Narayana Health-Mazumdar Shaw Medical Center, Narayana Health, Bangalore 560099, India.; Kekatpure MV; Department of Neurology, Division of Pediatric Neurology, Mazumdar Shaw Medical Center, Narayana Health, Bangalore 560099, India.; Afenjar A; Reference Center for Malformations and Congenital Diseases of the Cerebellum and Unit of Molecular Genetics, Department of Genetics, Trousseau Hospital, APHP Sorbonne University, Paris 75012, France.; Qebibo L; Reference Center for Malformations and Congenital Diseases of the Cerebellum and Unit of Molecular Genetics, Department of Genetics, Trousseau Hospital, APHP Sorbonne University, Paris 75012, France.; Developmental Brain Disorders Laboratory, Imagine Institute, Paris 75015, France.; Burglen L; Reference Center for Malformations and Congenital Diseases of the Cerebellum and Unit of Molecular Genetics, Department of Genetics, Trousseau Hospital, APHP Sorbonne University, Paris 75012, France.; Developmental Brain Disorders Laboratory, Imagine Institute, Paris 75015, France.; Tomoum H; Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo 11591, Egypt.; Demurger F; Department of Clinical Genetics, Vannes Hospital, Vannes 56017, France.; Duborg C; Service de Génétique Moléculaire, CHU Rennes, Hôpital Sud, CLAD Ouest, Rennes 40770, France.; Siddiqui S; Department of Neuroimaging and Interventional Radiology, STAR Institute of Neurosciences, STAR Hospitals, Hyderabad 500034, India.; Tsan YC; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Abdullah U; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi, Rawalpindi 46300, Pakistan.; Ali Z; Centre for Biotechnology and Microbiology, University of Swat, Charbagh, Swat, Khyber Pakhtunkhwa 19120, Pakistan.; Saadi SM; Human Molecular Genetics Laboratory, NIBGE-PIEAS, Faisalabad 61010, Pakistan.; Baig SM; Faculty of Life Sciences, Health Services Academy, Islamabad 44000, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, Karachi 74800, Pakistan.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Padiath QS; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15213, USA.; Department of Neurobiology, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA.; Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Durizot M; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.; Burglen L; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau, Paris, France; Department of Clinical Genetics, Centre de Référence Malformations et Maladies Congénitales du Cervelet, Hôpital Armand-Trousseau, Paris, France.; Garel C; APHP Sorbonne Université, Service de Radiologie, Hôpital Trousseau, Paris, France.; Blondiaux E; APHP Sorbonne Université, Service de Radiologie, Hôpital Trousseau, Paris, France.; Riquet A; Département de Neuropédiatrie, GHICL Université Catholique de Lille, Hôpital Saint Vincent de Paul, Lille, France.; Floret V; CHU de Lille, Service de Neuropédiatrie, Hôpital Salengro, Lille, France.; Desportes V; Centre de Référence des Maladies Rares et Déficience Intellectuelle, HCL Université de Lyon, Service de Neuropédiatrie HFME, Lyon, France.; Häänpaa M; Clinical Genetics, Turku University Hospital, Turku, Southwest Finland, Finland.; Valenzuela MI; Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Catalonia, Spain.; Pinto AM; Clinical Genetics, Policlinico Le Scotte - University Hospital of Siena, Siena, Tuscany, Italy.; Renieri A; Medical Genetics, University of Siena, Siena, Italy; Department of Medical Biotechnologies, Med Biotech Hub and Computer Center, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Vanneste M; Clinical Genetics, University Hospitals Leuven, Leuven, Flemish Brabant, Belgium.; Devriendt K; Clinical Genetics, University Hospitals Leuven, Leuven, Flemish Brabant, Belgium.; de Waele L; Neuropediatry, University Hospitals Leuven, Leuven, Flemish Brabant, Belgium.; Guilbaud L; Service de Médecine fœtale, APHP Sorbonne Université, Hôpital Trousseau, Paris, France.; Jouannic JM; Service de Médecine fœtale, APHP Sorbonne Université, Hôpital Trousseau, Paris, France.; Harion M; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.; Billette de Villemeur T; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.; Rodriguez D; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.; Lacaze E; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.; Milh M; Service de Neurologie Pédiatrique, APHM Aix-Marseille Université, Hôpital de la Timone-Enfants, Marseille, France.; Cloarec R; Centre de Référence Déficiences Intellectuelles et Polyhandicap de causes Rares, APHM Aix-Marseille Université, Hôpital de la Timone-Enfants, Marseille, France.; Afenjar A; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau, Paris, France; Department of Clinical Genetics, Centre de Référence Malformations et Maladies Congénitales du Cervelet, Hôpital Armand-Trousseau, Paris, France.; Héron D; Département de Génétique, APHP Sorbonne Université, Hôpital Pitié Salpétrière, Paris, France; Department of Pediatric Neurology, Centre de référence Deficiences Intellectuelles de causes rares, Paris, France.; Mignot C; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau, Paris, France; Department of Pediatric Neurology, Centre de référence Deficiences Intellectuelles de causes rares, Paris, France.; Valence S; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France; Department of Pediatric Neurology, Centre de référence Deficiences Intellectuelles de causes rares, Paris, France. Electronic address: stephanie.valence@aphp.fr.

Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Jeanne M; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France annick.toutain@univ-tours.fr mederic.jeanne@univ-tours.fr.; UMR1253, iBrain, Inserm, Université de Tours, Tours, France.; Ronce N; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; UMR1253, iBrain, Inserm, Université de Tours, Tours, France.; Remizé S; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; Arpin S; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; UMR1253, iBrain, Inserm, Université de Tours, Tours, France.; Baujat G; Service de médecine génomique des maladies rares, Institut Imagine, Hopital universitaire Necker-Enfants malades, Paris, Île-de-France, France.; UMR 1163 Inserm, Université Paris Cité, Paris, Île-de-France, France.; Breton S; Service de radiologie pédaitrique, Necker-Enfants Malades Hospitals, Paris, Île-de-France, France.; Petit F; Clinique de Génétique Guy Fontaine, Centre Hospitalier Regional Universitaire de Lille, Lille, Hauts-de-France, France.; Vanlerberghe C; Clinique de Génétique Guy Fontaine, Centre Hospitalier Regional Universitaire de Lille, Lille, Hauts-de-France, France.; Coeslier-Dieux A; Clinique de Génétique Guy Fontaine, Centre Hospitalier Regional Universitaire de Lille, Lille, Hauts-de-France, France.; Manouvrier-Hanu S; Clinique de Génétique Guy Fontaine, Centre Hospitalier Regional Universitaire de Lille, Lille, Hauts-de-France, France.; Vincent-Delorme C; Clinique de Génétique Guy Fontaine, Centre Hospitalier Regional Universitaire de Lille, Lille, Hauts-de-France, France.; Khau Van Kien P; Unité fonctionnelle de Génétique Médicale et cytogénétique, Centre Hospitalier Universitaire de Nimes, Nimes, Languedoc-Roussillon, France.; Van-Gils J; Département de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Quélin C; Service de Génétique Clinique, CLAD Ouest, Centre Hospitalier Universitaire de Rennes, Rennes, Bretagne, France.; Pasquier L; Service de Génétique Clinique, CLAD Ouest, Centre Hospitalier Universitaire de Rennes, Rennes, Bretagne, France.; Odent S; Service de Génétique Clinique, CLAD Ouest, Centre Hospitalier Universitaire de Rennes, Rennes, Bretagne, France.; Demurger F; Service de Génétique, Centre Hospitalier de Vannes, Vannes, France.; Laffargue F; Service de Génétique, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.; Francannet C; Service de Génétique, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.; Martin-Coignard D; Department of Medical Genetics, Le Mans Hospital, Le Mans 72037, France.; Afenjar A; UF de Génétique Clinique, APHP, Hôpital Armand Trousseau, Paris, France.; Whalen S; UF de Génétique Clinique, APHP, Hôpital Armand Trousseau, Paris, France.; Verloes A; Département de Génétique, UF de Génétique Clinique, APHP Hôpital Robert Debré, Paris, France.; Capri Y; Département de Génétique, UF de Génétique Clinique, APHP Hôpital Robert Debré, Paris, France.; Delahaye A; Service d'Histologie-Embryologie-Cytogénétique, APHP, Hôpital Jean verdier, Bondy, France.; Plaisancié J; Service de Génétique Médicale, Centre Hospitalier Universitaire de Toulouse, Toulouse, Occitanie, France.; Labrune P; Service de Pédiatrie, APHP, Hôpital Antoine Béclère, Paris, France.; Destree A; Département de Génétique Clinque, Institut de Pathologie et de Génétique asbl, Gosselies, Belgium.; Maystadt I; Département de Génétique Clinque, Institut de Pathologie et de Génétique asbl, Gosselies, Belgium.; Ciorna Monferrato V; Service de Génétique, Centre Hospitalier Régional de Metz-Thionville, Metz, Lorraine, France.; Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, Pays de la Loire, France.; Vincent M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, Pays de la Loire, France.; Jean Marçais N; Service de Génétique Clinique, CLAD Ouest, Centre Hospitalier Universitaire de Rennes, Rennes, Bretagne, France.; Nambot S; Service de Génétique, FHU Translad, Centre Hospitalier Universitaire de Dijon, Dijon, Bourgogne-Franche-Comté, France.; Schaefer E; Service de Génétique, Centre Hospitalier Universitaire de Strasbourg, Strasbourg, Alsace, France.; El Chehadeh S; Service de Génétique, Centre Hospitalier Universitaire de Strasbourg, Strasbourg, Alsace, France.; Lespinasse J; Service de Génétique, Centre Hospitalier Metropole Savoie, Chambery, Auvergne-Rhône-Alpes, France.; Collignon P; Service de Génétique Médicale, Centre Hospitalier Intercommunal de Toulon, Toulon, France.; Busa T; Département de Génétique Médicale, Assistance Publique Hopitaux de Marseille, Marseille, Provence-Alpes-Côte d'Azu, France.; Philip N; Département de Génétique Médicale, Assistance Publique Hopitaux de Marseille, Marseille, Provence-Alpes-Côte d'Azu, France.; Willems M; Departement de Génétique Medicale, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France.; Planes M; Service de Pédiatrie et de Génétique Médicale, Centre Hospitalier Universitaire de Brest, Brest, Bretagne, France.; Vanakker OM; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Lambert L; Service de Génétique Clinique, Centre Hospitalier Universitaire de Nancy, Nancy, Lorraine, France.; Leheup B; Service de Génétique Clinique, Centre Hospitalier Universitaire de Nancy, Nancy, Lorraine, France.; Mathieu-Dramard M; Service de Génétique, Centre Hospitalier Universitaire d'Amiens, Amiens, Hauts-de-France, France.; Morin G; Service de Génétique, Centre Hospitalier Universitaire d'Amiens, Amiens, Hauts-de-France, France.; Dieterich K; Département de Génétique et Procréation, Centre Hospitalier Universitaire de Grenoble, Grenoble, France.; Ginglinger E; Service de Génétique, GHR Mulhouse Sud Alsace, Mulhouse, Grand Est, France.; Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Syddanmark, Denmark.; Department of epilepsy genetics and personalized medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Balasubramanian M; Sheffield clinical genetics service, Sheffield children NHS foundation trust, Sheffield, UK.; Dauriat B; Service de Cytogénétique et Génétique Médicale, Centre Hospitalier Universitaire de Limoges, Limoges, Nouvelle-Aquitaine, France.; Haye D; Service de génétique médicale, Hospices civils de Lyon, Lyon, France.; Amiel J; Service de médecine génomique des maladies rares, Institut Imagine, Hopital universitaire Necker-Enfants malades, Paris, Île-de-France, France.; UMR 1163 Inserm, Université Paris Cité, Paris, Île-de-France, France.; Rio M; Service de médecine génomique des maladies rares, Institut Imagine, Hopital universitaire Necker-Enfants malades, Paris, Île-de-France, France.; UMR 1163 Inserm, Université Paris Cité, Paris, Île-de-France, France.; Cormier-Daire V; Service de médecine génomique des maladies rares, Institut Imagine, Hopital universitaire Necker-Enfants malades, Paris, Île-de-France, France.; UMR 1163 Inserm, Université Paris Cité, Paris, Île-de-France, France.; Toutain A; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France annick.toutain@univ-tours.fr mederic.jeanne@univ-tours.fr.; UMR1253, iBrain, Inserm, Université de Tours, Tours, France.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Salima El Chehadeh; Solveig Heide; Chloé Quélin; Marlène Rio; Henri Margot; David Geneviève; Bertrand Isidor; Alice Goldenberg; Caroline Guégan; Gaëtan Lesca; Marjolaine Willems; Clothilde Ormières; Roseline Caumes; Tiffany Busa; Dominique Bonneau; Anne-Marie Guerrot; Isabelle Marey; Gabriella Vera; Pauline Marzin; Anaïs Philippe; Aurore Garde; Christine Coubes; Marie Vincent; Vincent Michaud; Cyril Mignot; Perrine Charles; Sabine Sigaudy; Patrick Edery; Didier Lacombe; Anne Boland; Frédérique Nowak; Marion Bouctot; Marie-Laure Humbert-Asensio; Alban Simon; Kirsley Chennen; Niki Sabour; Christelle Delmas; Gaël Nicolas; Pascale Saugier-Veber; François Lecoquierre; Kévin Cassinari; Boris Keren; Thomas Courtin; Jean-Madeleine De Sainte Agathe; Valérie Malan; Giulia Barcia; Frédéric Tran Mau-Them; Hana Safraou; Christophe Philippe; Julien Thévenon; Nicolas Chatron; Louis Januel; Amélie Piton; Virginie Haushalter; Bénédicte Gérard; Catherine Lejeune; Laurence Faivre; Damien Sanlaville; Delphine Héron; Sylvie Odent; Patrick Nitschké; Caroline Schluth-Bolard; Stanislas Lyonnet; Jean-François Deleuze; Christine Binquet; Hélène Dollfus; Magalie Barth; Estelle Colin; Yosra Halleb; Clara Houdayer; Clément Prouteau; Marine Tessarech; Alban Ziegler; Chloé Angelini; Marie-Pierre Baudier; Meryem Britel; Noémie Bronnec; Clémence Deiber; Virginie Dorian; Juliette Gaudry; Cyril Goizet; Nawel Hairech; Ouidad Hasnaoui; Manon Laurent; Marine Legendre; Sophie Naudion; Ndeye-Fatou Ngom; Caroline Rooryck Thambo; Julien Van Gils; Cécile Zordan; Myriam Borel; Anne-Sophie Briffaut; Charley Robert Viard; Delphine Bacq-Daian; Celine Besse; Bertrand Fin; Vincent Meyer; Marie-Laure Moutet; Robert Olaso; Florian Sandron; Violette Turon; Celine Bernard; Marie Bournez; Ange-Line Bruel; Eleonore Viora-Dupont; Julian Delanne; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Romain Duquet; Aurelie Espitalier; Clemence Fauconnier-Fatus; Sophie Nambot; Aurore Petiot; Victor Pillay; Charlotte Poe; Melodie Soto; Christel Thauvin; Mylene Tharreau; Antonio Vitobello; Marjolaine Gauthier; Marie-Ange Nguyen Morel; Frederique Nugues; Antoine Wyrebski; Klaus Dieterich; Pauline Le Tanno; Laurence Bellengier; Odile Boute; Cindy Colson; Anne Dieux; Jamal Ghoumid; Luisa Marsili; Florence Petit; Coralie Rubeck; Clemence Vanlerberghe; Catherine Vincent-Delorme; Christelle Rougeot-Jung; Aurore Curie; Vincent des Portes; Sylvie Goutte; Damien Haye; Audrey Labalme; Pauline Monin; Marianne Till; Thibaud Armand; Julie Reversat; Françoise Robert; Amelie Berthiot; Marion Colard; Lamia El Amrani-El Idrissi; Tiphaine Francois; Haymanot George; Manel Saidi; Karima Rendja; Iracema Triguel; Claire Bardel; Pierre Antoine Rollat-Farnier; Audrey Putoux; Massimiliano Rossi; Linda Pons; Emilie Consolino; Olga Glazunova; Audrey Mallet; Nicole Philip-Sarles; Florence Riccardi; Valerie Seror; Severine Beltram; Florent Cerret; Laura Crantelle; Mirna Khalil; Patricia Blanchet; Caroline Deiller; Emmanuelle Haquet; Lucile Pinson; Constance Wells; Francis Guillemin; Solene Conrad; Laura Guyon; Sandra Mercier; Mathilde Nizon; Annastasia Voisine; Kahina Abdallah; Jeanne Amiel; Genevieve Baujat; Wiam Bhia; Jean-Paul Bonnefont; Valerie Cormier-Daire; Narimene De Nadai; Valeria Florentino; Kelly Gouvenot; Anne Guimier; Hamza Hadj Abdallah; Jerome Jeannette; Sandrine Marlin; Cecile Masson; Caroline Michot; Lea Peroni; Serge Romana; Alexandra Afenjar; Lydie Burglen; Sandra Whalen; Julien Buratti; Eric Leguern; Anne Faudet; Anna Gerasimenko; Caroline Moukossi-Mouelle; Linda Mouthon; Anne-Sophie Pellen; Stephanie Staraci; Daphne Lehalle; Helene Esperou; Soizic Le Mestre; Claire Levy-Marchal; Wilfrid Carre; Marie De Tayrac; Christele Dubourg; Chloé Fournier; Linda Akloul; Melanie Fradin; Nolwenn Jean-Marcais; Alinoë Lavillaureix; Godelieve Morel; Laurent Pasquier; Elisabeth Poirel; Audrey Riou; Paul Rollier; Anne-Claire Brehin; Pascal Chambon; Delphine Gonde; Geraldine Joly-Helas; Nadege Calmels; Celine Cuny; Claire Feger; Benjamin Durand; Nathalie Goetz; Pierre-Yves Maillard; Sophie Monduc; Elise Schaefer; Sophie Scheidecker; Jean Muller; Amelie Piton

Genome Med

Almousa H; Department of Biology, Concordia University, Montreal, Quebec H4B1R6, Canada.; Lewis SA; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Nordlie SH; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Pagnozzi A; CSIRO Health and Biosecurity, The Australian e-Health Research Centre, Brisbane 4029, Australia.; Magee H; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Heim JA; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Cornejo P; Pediatric Neuroradiology Division, Pediatric Radiology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA.; Department of Radiology, Mayo Clinic, Scottsdale, AZ 85259, USA.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12622, Egypt.; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo 4460015, Egypt.; Anwar N; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Maqbool S; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Rahman F; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Neilson DE; Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Vemuri A; Department of Pathology, University of Chicago, Chicago, IL 60637, USA.; Jin SC; Department of Genetics, Washington University, St.Louis, MO 63110, USA.; Yang XR; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, S.W. Calgary, AB T2N 4N1, Canada.; Heidari A; Reference Laboratory, Qazvin Medical University, Qazvin 34148-33245, Iran.; van Gassen K; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands.; Trimouille A; Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, CHU Bordeaux-Hôpital Pellegrin, Place Amélie Raba Léon, 33000 Bordeaux, France.; Thauvin-Robinet C; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; GAD 'Génétique des Anomalies du Développement', INSERM-Université de Bourgogne UMR1231, 21078 Dijon, France.; Liu J; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Bruel AL; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; GAD 'Génétique des Anomalies du Développement', INSERM-Université de Bourgogne UMR1231, 21078 Dijon, France.; Tomoum H; Department of Pediatrics, Ain Shams University, Cairo 11516, Egypt.; Shata MO; Department of Pediatrics, Ain Shams University, Cairo 11516, Egypt.; Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad 13944-91388, Iran.; Neuroscience Research Center, Mashhad University of Medical Science, Mashhad 13944-91388, Iran.; Karimiani EG; Molecular and Clinical Sciences Institute, St.George's, University of London, London SW17 0RE, UK.; Yeşil G; Istanbul Medical Faculty Department of Medical Genetics, Istanbul University, Istanbul 34452, Turkey.; Lingappa L; Pediatric Neurology, Rainbow Children Hospital, Hyderabad 500034, India.; Baruah D; Pediatric Neurology, Rainbow Children Hospital, Hyderabad 500034, India.; Ebrahimzadeh F; Department of Internal Medicine, Mashhad University of Medical Sciences, Mashhad 13944-91388, Iran.; Van-Gils J; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands.; Faivre L; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz 6155889467, Iran.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135733118, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz 6155889467, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135733118, Iran.; Mohammad R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; van der Smagt J; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands.; Qari A; Medical Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.; Vincent JB; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON M6J 1H4, Canada.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, S.W. Calgary, AB T2N 4N1, Canada.; Dursun A; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey.; Özgül RK; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey.; Akar HT; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey.; Bilguvar K; Department of Medical Genetics, Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey.; Department of Neurosurgery and Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.; Mignot C; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, 75012 Paris, France.; Keren B; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France.; Raveli C; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, 75012 Paris, France.; Burglen L; Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, APHP. Sorbonne Université, Hôpital Trousseau, 75012 Paris, France.; Afenjar A; Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, APHP. Sorbonne Université, Hôpital Trousseau, 75012 Paris, France.; Kaat LD; Department of Clinical Genetics, Erasmus Medical Center, 3000 Rotterdam, The Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus Medical Center, 3000 Rotterdam, The Netherlands.; Alkuraya F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Padilla-Lopez S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Sacher M; Department of Biology, Concordia University, Montreal, Quebec H4B1R6, Canada.; Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec H3A0C7, Canada.; Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Peter A. Fasching; Dennis Slamon; Zbigniew Nowecki; Bozena Kukielka-Budny; Daniil Stroyakovskiy; Denise A. Yardley; Chiun-Sheng Huang; Arlene Chan; Stephen Chia; Miguel Martín; Hope S. Rugo; Sherene Loi; Sara Hurvitz; Michael Untch; Karen Afenjar; Rodrigo Fresco; Andriy Danyliv; Ilia Ferrusi; Zheng Li; Gabriel Hortobagyi

Clin Cancer Res

Michael Zech; Ivana Dzinovic; Matej Skorvanek; Philip Harrer; Jan Necpal; Robert Kopajtich; Volker Kittke; Erik Tilch; Chen Zhao; Eugenia Tsoma; Ugo Sorrentino; Elisabetta Indelicato; Antonia Stehr; Alice Saparov; Lucia Abela; Miriam Adamovicova; Alexandra Afenjar; Birgit Assmann; Janette Baloghova; Matthias Baumann; Riccardo Berutti; Zuzana Brezna; Melanie Brugger; Theresa Brunet; Benjamin Cogne; Isabel Colangelo; Erin Conboy; Felix Distelmaier; Matthias Eckenweiler; Barbara Garavaglia; Arie Geerlof; Elisabeth Graf; Annette Hackenberg; Denisa Harvanova; Bernhard Haslinger; Petra Havrankova; Georg F Hoffmann; Wibke G Janzarik; Boris Keren; Miriam Kolnikova; Konstantinos Kolokotronis; Zuzana Kosutzka; Anne Koy; Martin Krenn; Magdalena Krygier; Katarina Kusikova; Oliver Maier; Thomas Meitinger; Christian Mertes; Ivan Milenkovic; Edoardo Monfrini; Andre Santos Dias Mourao; Thomas Musacchio; Mathilde Nizon; Miriam Ostrozovicova; Martin Pavlov; Iva Prihodova; Irena Rektorova; Luigi M Romito; Barbora Rybanska; Ariane Sadr-Nabavi; Susanne Schwenger; Ali Shoeibi; Alexandra Sitzberger; Dmitrii Smirnov; Jana Svantnerova; Raushana Tautanova; Sandra P Toelle; Olga Ulmanova; Francesco Vetrini; Katharina Vill; Matias Wagner; David Weise; Giovanna Zorzi; Alessio Di Fonzo; Konrad Oexle; Steffen Berweck; Volker Mall; Sylvia Boesch; Barbara Schormair; Holger Prokisch; Robert Jech; Juliane Winkelmann

Brain

Kubisch, Christian; Cogne, Benjamin; Rabin, Rachel; Kessler, Elena; Chappé, Céline; Brugger, Melanie; Jorge, Alexander A.L.; Short, John; Posey, Jennifer E.; Szakszon, Katalin; Bedeschi, Maria Francesca; Yuan, Bo; Brunet, Theresa; Chong, Hey J.; Poths, Karin; Josifova, Dragana; Maeding, Nicole; Sidlow, Richard; Nevay, Dayna-Lynn; Mehta, Lakshmi; Gangi, Silvana; Pappas, John; Cope, Heidi; Schrauwen, Isabelle; Hüning, Irina; Banka, Siddharth; Powell-Hamilton, Nina; Lyon, Gholson J.; Wieczorek, Dagmar; Leal, Suzanne M.; Courtin, Thomas; Fernandes, Erica; Harasink, Sue Moyer; Kamsteeg, Erik-Jan; Afenjar, Alexandra; Tan, Queenie K.G.; Marchi, Elaine; Brick, Lauren; Cardenas, Paul; Deb, Wallid; Wagner, Matias; Sullivan, Jennifer; Begtrup, Amber; Platzer, Konrad; Lessel, Davor; Oegema, Renske; Mancardi, Margherita; Kölbel, Heike; Haack, Tobias B.; Kuechler, Alma; Capra, Valeria; Fitzgerald, Kristi K.; Baresic, Anja; Chinn, Ivan K.; Rezende, Raissa C.; Odent, Sylvie; Kozenko, Mariya; Morel, Chantal F.; Network, Undiagnosed Diseases; Tolosa, Eva; Dubourg, Christèle; Sebastian, Jessica; Keren, Boris; Robert, Leema; Goenka, Anu; Lessel, Ivana; Jin, Jay J.; Gucsavas-Calikoglu, Muge; Chandler, Kate E.; Scala, Marcello; Rekab, Aisha; Madan-Khetarpal, Suneeta; Perilla-Young, Yezmin; Leppälä, Juha; de la Calle-Martín, Oscar; Conboy, Erin; Isidor, Bertrand; George-Abraham, Jaya K.; Järvelä, Irma; May, Jonathan; Dilena, Robertino; Averdunk, Luisa; Luu, Sharon M.; Hanker, Britta; Pastore, Matthew T.; Strunk, Dirk; Nigro, Vincenzo; Elgizouli, Magdeldin; Iascone, Maria; Menendez, Beatriz; Kalinauskiene, Ruta; Besnard, Thomas; Byrne, Susan; Romano, Ferruccio; Lupski, James R.; Brager, Rae; Hadonou, Medard

Am J Hum Genet
American Journal of Human Genetics, 112, 2, pp. 394-413
Undiagnosed Diseases Network, Lessel, I, Baresic, A, Chinn, I K, May, J, Goenka, A, Chandler, K E, Posey, J E, Afenjar, A, Averdunk, L, Bedeschi, M F, Besnard, T, Brager, R, Brick, L, Brugger, M, Brunet, T, Byrne, S, Calle-Martín, O D L, Capra, V, Cardenas, P, Chappé, C, Chong, H J, Cogne, B, Conboy, E, Cope, H, Courtin, T, Deb, W, Dilena, R, Dubourg, C, Elgizouli, M, Fernandes, E, Fitzgerald, K K, Gangi, S, George-Abraham, J K, Gucsavas-Calikoglu, M, Haack, T B, Hadonou, M, Hanker, B, Hüning, I, Iascone, M, Isidor, B, Järvelä, I, Jin, J J, Jorge, A A L, Josifova, D, Kalinauskiene, R, Kamsteeg, E-J, Keren, B, Kessler, E, Kölbel, H & Banka, S 2025, 'DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders', American Journal of Human Genetics, vol. 112, no. 2, pp. 394-413. https://doi.org/10.1016/j.ajhg.2024.12.012
The American Journal of Human Genetics

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D’Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A. Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J.; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L.; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S.; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A.; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A.; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A.; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P.; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M.; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O’Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel

Nature Genetics. :1-15

Legrand A; GHU PARIS Psychiatrie & Neurosciences, Sainte-Anne Hospital, F-75014 Paris, France.; Moyal M; GHU PARIS Psychiatrie & Neurosciences, Sainte-Anne Hospital, F-75014 Paris, France.; Deschamps C; Department of Child and Adolescent Psychiatry, Pitié-Salpêtrière Hospital, Paris, France.; Louveau C; GHU PARIS Psychiatrie & Neurosciences, Sainte-Anne Hospital, F-75014 Paris, France.; Iftimovici A; GHU PARIS Psychiatrie & Neurosciences, Sainte-Anne Hospital, F-75014 Paris, France; Université Paris Cité, Institut de Psychiatrie et Neurosciences de Paris (IPNP), INSERM U1266, Paris, France.; Krebs MO; GHU PARIS Psychiatrie & Neurosciences, Sainte-Anne Hospital, F-75014 Paris, France; Université Paris Cité, Institut de Psychiatrie et Neurosciences de Paris (IPNP), INSERM U1266, Paris, France.; Héron B; Department of Pediatric Neurology, Armand Trousseau Hospital, AP-HP.Sorbonne University, Paris, France.; Keren B; Department of medical genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris, France.; Afenjar A; APHP Sorbonne University, Reference Center for Intellectual Disabilities From Rare Causes, Department of Genetics and Medical Embryology, Armand Trousseau Hospital, F-75012 Paris, France.; Chaumette B; GHU PARIS Psychiatrie & Neurosciences, Sainte-Anne Hospital, F-75014 Paris, France; Université Paris Cité, Institut de Psychiatrie et Neurosciences de Paris (IPNP), INSERM U1266, Paris, France; Department of Psychiatry, McGill University, Montreal, Canada. Electronic address: boris.chaumette@inserm.fr.

Publisher: Elsevier Science Publisher B. V Country of Publication: Netherlands NLM ID: 8804207 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2509 (Electronic) Linking ISSN: 09209964 NLM ISO Abbreviation: Schizophr Res Subsets: MEDLINE

Rive Le Gouard, Nicolas; G. Bah, Maissa; Coarelli, Giulia; Heinzmann, Anna; Fauret, Anne‐laure; de Sainte-Agathe, Jean‐madeleine; Cazeneuve, Cécile; Gerasimenko, Anna; Gras, Domitille; Capri, Yline; Renaud, Mathilde; Brais, Bernard; Grenenko, Cecile; Masurel, Alice; Berquin, Patrick; Jobic, Florence; Métreau, Julia; Deiva, Kumaran; Afenjar, Alexandra; Gravrand, Victor; Lannuzel, Annie; Anheim, Mathieu; Geis, Tobias; Hehr, Ute; Madan Cohen, Jennifer; Desnous, Béatrice; J. A. Kievit, Anneke; Bahi-Buisson, Nadia; Rodriguez, Diana; Renaldo, Florence; Cances, Claude; Devos, David; Angelini, Chloé; Goizet, Cyril; Ewenczyk, Claire; Durr, Alexandra; Mignot, Cyril

Eur J Neurol

Harsha Murthy; Ny Hoang; Jamie C Stark; Sunny Cui; Emanuela Pannia; Chung Ting Tsoi; Simon Harris; C’airah Ceolin; Lauren Verhaeghe; Sydney Scholten; Danielle Baribeau; Jane Summers; Gregory Costain; Thanuja Selvanayagam; Jennifer L Howe; M E Suzanne Lewis; Theresa Brunet; Susanne Rieger; Jill A Rosenfeld; William J Craigen; Lindsay C Burrage; Michelle R Christie; Deborah Baldwin; Ingrid M Wentzensen; Boris Keren; Benjamin Cogne; Bertrand Isidor; Alexandra Afenjar; Reem M Elshafie; Laila Bastaki; Sumaya Alkanderi; Kenneth A Myers; Scott Demarest; Katie Angione; Megan Abbott; Philippe M Campeau; James J Dowling; Roberto Mendoza-Londono; Stephen W Scherer; Ashish R Deshwar; Jacob Vorstman

Brain.

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American Journal of Human Genetics, 111, 8, pp. 1626-1642
Rots, D, Choufani, S, Faundes, V, Dingemans, A J M, Joss, S, Foulds, N, Jones, E A, Stewart, S, Vasudevan, P, Dabir, T, Park, S-M, Jewell, R, Pais, L, Jacquemont, S, Jizi, K, Ravenswaaij-Arts, C M A V, Kroes, H Y, Stumpel, C T R M, Ockeloen, C W, Diets, I J, Nizon, M, Vincent, M, Cogné, B, Besnard, T, Kambouris, M, Anderson, E, Zackai, E H, McDougall, C, Donoghue, S, O'Donnell-Luria, A, Valivullah, Z, O'Leary, M, Srivastava, S, Byers, H, Leslie, N, Mazzola, S, Tiller, G E, Vera, M, Shen, J J, Boles, R, Jain, V, Brischoux-Boucher, E, Kinning, E, Simpson, B N, Giltay, J C, Harris, J, Keren, B, Guimier, A, Marijon, P, Vries, B B A D, Motter, C S, Mendelsohn, B A, Coffino, S, Gerkes, E H, Afenjar, A, Visconti, P, Bacchelli, E, Maestrini, E, Delahaye-Duriez, A, Gooch, C, Hendriks, Y, Adams, H, Thauvin-Robinet, C, Josephi-Taylor, S, Bertoli, M, Rutten, J W, Caluseriu, O, Vernon, H J, Kaziyev, J, Kremen, J, Frazier, Z, Osika, H, Breault, D, Nair, S, Lewis, S M E, Ceroni, F, Viggiano, M, Posar, A, Brittain, H, Giovanna, T, Giulia, G, Quteineh, L, Ha-Vinh Leuchter, R, Zonneveld-Huijssoon, E, Mellado, C, Marey, I, Coudert, A, Aracena Alvarez, M I, Kennis, M G P, Bouman, A, Roifman, M, Amorós Rodríguez, M I, Ortigoza-Escobar, J D, Vernimmen, V, Sinnema, M, Pfundt, R, Brunner, H G, Vissers, L E L M, Kleefstra, T, Weksberg, R & Banka, S 2024, 'Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes', American Journal of Human Genetics, vol. 111, no. 8, pp. 1626-1642. https://doi.org/10.1016/j.ajhg.2024.06.009, https://doi.org/10.1016/j.ajhg.2024.06.009.
American Journal of Human Genetics, vol 111, iss 8

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Journal of Medical Genetics. 61:878-885

Birk Möller; Lena-Luise Becker; Afshin Saffari; Alexandra Afenjar; Emanuele G Coci; Rachel Williamson; Catherine Ward-Melver; Marc Gibaud; Lucie Sedláčková; Petra Laššuthová; Zuzana Libá; Markéta Vlčková; Nancy William; Eric W Klee; Ralitza H Gavrilova; Jonathan Lévy; Yline Capri; Mena Scavina; Robert Walter Körner; Zaheer Valivullah; Claudia Weiß; Greta Marit Möller; Zoë Frazier; Amy Roberts; Blanca Gener; Marcello Scala; Pasquale Striano; Federico Zara; Moritz Thiel; Margje Sinnema; Erik-Jan Kamsteeg; Sandra Donkervoort; Veronique Duboc; Khaoula Zaafrane-Khachnaoui; Nour Elkhateeb; Laila Selim; Henri Margot; Victor Marin; Claire Beneteau; Bertrand Isidor; Benjamin Cogne; Boris Keren; Benno Küsters; Alan H Beggs; Abigail Sveden; Maya Chopra; Casie A Genetti; Joost Nicolai; Jörg Dötsch; Anne Koy; Carsten G Bönnemann; Maja von der Hagen; Jürgen-Christoph von Kleist-Retzow; Nicol C Voermans; Heinz Jungbluth; Hormos Salimi Dafsari

Brain
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Möller, B, Becker, L L, Saffari, A, Afenjar, A, Coci, E G, Williamson, R, Ward-Melver, C, Gibaud, M, Sedláčková, L, Laššuthová, P, Libá, Z, Vlčková, M, William, N, Klee, E W, Gavrilova, R H, Lévy, J, Capri, Y, Scavina, M, Körner, R W, Valivullah, Z, Weiß, C, Möller, G M, Frazier, Z, Roberts, A, Gener, B, Scala, M, Striano, P, Zara, F, Thiel, M, Sinnema, M, Kamsteeg, E J, Donkervoort, S, Duboc, V, Zaafrane-Khachnaoui, K, Elkhateeb, N, Selim, L, Margot, H, Marin, V, Beneteau, C, Isidor, B, Cogne, B, Keren, B, Küsters, B, Beggs, A H, Sveden, A, Chopra, M, Genetti, C A, Nicolai, J, Dötsch, J, Koy, A, Bönnemann, C G, von der Hagen, M, von Kleist-Retzow, J C, Voermans, N C, Jungbluth, H & Dafsari, H S 2025, 'The expanding clinical and genetic spectrum of DYNC1H1-related disorders', Brain, vol. 148, no. 2, pp. 597-612. https://doi.org/10.1093/brain/awae183

Jacquin C; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.; Landais E; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.; Poirsier C; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.; Afenjar A; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, Paris, France.; Akhavi A; Cardiologie pédiatrique et congénitale, CHU Reims, Reims, France.; Bednarek N; Service de pédiatrie, Pôle Femme Parents Enfants, CHU Reims, Reims, France.; CReSTIC/EA 3804, URCA, Reims, France.; Bénech C; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Bonnard A; Département de Génétique, Hôpital Robert Debré, Paris, France.; Bosquet D; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Burglen L; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, Paris, France.; Callier P; Laboratoire de Cytogénétique, CHU Dijon, Dijon, France.; Chantot-Bastaraud S; AP-HP Sorbonne Université, Département de Génétique Médicale, Hôpital Armand Trousseau, Paris, France.; Coubes C; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Génétique clinique, CHU Montpellier, Université Montpellier, Centre de référence anomalies du développement SOOR, Montpellier, France.; Coutton C; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble-Alpes, Grenoble, France.; Genetic Epigenetic and Therapies of Infertility team, Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.; Delobel B; Centre de Génétique Chromosomique, GH de l'Institut Catholique de Lille-Hopital Saint Vincent de Paul, Lille, France.; Descharmes M; Service de pédiatrie, Pôle Femme Parents Enfants, CHU Reims, Reims, France.; Dupont JM; Laboratoire de Cytogénétique Constitutionnelle, APHP. Centre-Université Paris Cité site Cochin, Paris, France.; Gatinois V; Plateforme ChromoStem, Unité de génétique chromosomique, Département de génétique moléculaire et cytogénomique, CHU de Montpellier, Université de Montpellier, Montpellier, France.; Gruchy N; Service de Génétique, CHU Caen, Université Caen Normandie, Caen, France.; Guterman S; Département de Génétique, Centre Hospitalier Intercommunal Poissy-St-Germain-en-Laye, Poissy, France.; Heddar A; Laboratoire de Cytogénétique Constitutionnelle, APHP. Centre-Université Paris Cité site Cochin, Paris, France.; Herissant L; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.; Heron D; AP-HP Sorbonne Université, Département de Génétique Médicale, Hôpital Armand Trousseau, Paris, France.; Département de Génétique; Centre de Référence Déficience Intellectuelle de Causes Rares, APHP Sorbonne Université, GH Pitié-Salpêtrière, Paris, France.; Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes, France.; Jaeger P; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Jouret G; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.; Keren B; Département de Génétique; Centre de Référence Déficience Intellectuelle de Causes Rares, APHP Sorbonne Université, GH Pitié-Salpêtrière, Paris, France.; Kuentz P; Oncobiologie Génétique Bioinformatique, CHU de Besançon, Besançon, France.; Le Caignec C; Service de Génétique Médicale, CHU de Nantes, Nantes, France.; Levy J; Département de Génétique, Hôpital Robert Debré, Paris, France.; Lopez N; Service de neuropédiatrie, Hôpital Armand Trousseau, Groupe Hospitalier Universitaire de l'Est Parisien, Paris, France.; Manssens Z; Centre de Génétique Chromosomique, GH de l'Institut Catholique de Lille-Hopital Saint Vincent de Paul, Lille, France.; Martin-Coignard D; Service de génétique médicale, CH du Mans, Le Mans, France.; Marey I; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble-Alpes, Grenoble, France.; Mignot C; AP-HP Sorbonne Université, Département de Génétique Médicale, Hôpital Armand Trousseau, Paris, France.; Département de Génétique; Centre de Référence Déficience Intellectuelle de Causes Rares, APHP Sorbonne Université, GH Pitié-Salpêtrière, Paris, France.; Missirian C; Laboratoire de Génétique Chromosomique, Département de Génétique Médicale, AP- HM, Marseille, France.; Pebrel-Richard C; Service de Cytogénétique Médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France.; Pinson L; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Génétique clinique, CHU Montpellier, Université Montpellier, Centre de référence anomalies du développement SOOR, Montpellier, France.; Puechberty J; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Génétique clinique, CHU Montpellier, Université Montpellier, Centre de référence anomalies du développement SOOR, Montpellier, France.; Redon S; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Sanlaville D; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Spodenkiewicz M; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.; Tabet AC; Département de Génétique, Hôpital Robert Debré, Paris, France.; Verloes A; Département de Génétique, Hôpital Robert Debré, Paris, France.; Vieville G; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble-Alpes, Grenoble, France.; Yardin C; Department of Cytogenetics and clinical genetics, Limoges University Hospital, University of Limoges, Limoges, France.; Vialard F; Département de Génétique, Centre Hospitalier Intercommunal Poissy-St-Germain-en-Laye, Poissy, France.; RHuMA, UMR BREED, INRAE-UVSQ-ENVA, Montigny-le-bretonneux, France.; Doco-Fenzy M; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.; Service de génétique médicale, CHU de Nantes, Nantes, France.; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU de Nantes, Nantes, 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

Burglen L; Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, Paris, France.; Van Hoeymissen E; Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.; VIB Center for Brain & Disease Research, Leuven, Belgium.; Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven, Leuven, Belgium.; Qebibo L; Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.; Barth M; Department of Genetics, University Hospital of Angers, Angers, France.; Belnap N; Translational Genomics Research Institute (TGen), Neurogenomics Division, Center for Rare Childhood Disorders, Phoenix, United States.; Boschann F; Charité - Universitäts medizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany.; Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; De Clercq K; Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.; VIB Center for Brain & Disease Research, Leuven, Belgium.; Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven, Leuven, Belgium.; Douglas AGL; University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.; Fitzgerald MP; Children's Hospital of Philadelphia, Philadelphia, United States.; Foulds N; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.; Garel C; Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.; Service de Radiologie Pédiatrique, Hôpital Armand-Trousseau, Médecine Sorbonne Université, Paris, France.; Helbig I; Children's Hospital of Philadelphia, Philadelphia, United States.; Held K; Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.; VIB Center for Brain & Disease Research, Leuven, Belgium.; Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven, Leuven, Belgium.; Horn D; Charité - Universitäts medizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany.; Janssen A; Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.; VIB Center for Brain & Disease Research, Leuven, Belgium.; Kaindl AM; Institute of Cell Biology and Neurobiology, Charité - Universitäts medizin Berlin, Berlin, Germany.; Department of Pediatric Neurology, Charité - Universitäts medizin Berlin, Berlin, Germany.; Charité - Universitäts medizin Berlin, Center for Chronically Sick Children, Berlin, Germany.; Narayanan V; Translational Genomics Research Institute (TGen), Neurogenomics Division, Center for Rare Childhood Disorders, Phoenix, United States.; Prager C; Department of Pediatric Neurology, Charité - Universitäts medizin Berlin, Berlin, Germany.; Charité - Universitäts medizin Berlin, Center for Chronically Sick Children, Berlin, Germany.; Rupin-Mas M; Department of Neuropediatrics, University Hospital of Angers, Angers, France.; Afenjar A; Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.; Zhao S; Department of Pharmacology, Physiology and Neuroscience, Rutgers, The State University of New Jersey, Newark, United States.; Ramaekers VT; Division Neuropediatrics, University Hospital Liège, Liège, Belgium.; Ruggiero SM; Children's Hospital of Philadelphia, Philadelphia, United States.; Thomas S; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom.; Valence S; Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.; Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau AP-HP, Paris, France.; Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté Besançon, Besancon, France.; Center of Clinical Investigation 1431, National Institute of Health and Medical Research, Besancon, France.; Rohacs T; Department of Pharmacology, Physiology and Neuroscience, Rutgers, The State University of New Jersey, Newark, United States.; Rodriguez D; Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.; Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau AP-HP, Paris, France.; Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Voets T; Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.; VIB Center for Brain & Disease Research, Leuven, Belgium.; Vriens J; Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven, Leuven, Belgium.

Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

Alstrup M; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Electronic address: MOCHHA@rm.dk.; Cesca F; Department of Life Sciences, University of Trieste, Trieste, Italy; IIT Center for Synaptic Neuroscience and Technology, Genova, Italy. Electronic address: fcesca@units.it.; Krawczun-Rygmaczewska A; Department of Life Sciences, University of Trieste, Trieste, Italy; IIT Center for Synaptic Neuroscience and Technology, Genova, Italy.; López-Menéndez C; Instituto de Investigaciones Biomédicas Sols-Morreale. Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III. Madrid, Spain.; Pose-Utrilla J; Instituto de Investigaciones Biomédicas Sols-Morreale. Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III. Madrid, Spain.; Castberg FC; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Pediatrics, North Zealand Hospital, Hilleroed, Denmark.; Bjerager MO; Department of Pediatrics, North Zealand Hospital, Hilleroed, Denmark.; Finnila C; Hudson Alpha Institute for Biotechnology, Huntsville, AL.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ.; Padilla-Lopez S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ.; Manwaring L; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.; Keren B; Département de génétique, AP-HP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France.; Afenjar A; APHP. Sorbonne Université, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, UF de génétique clinique, Hôpital Trousseau, Paris, France.; Galatolo D; Molecular Medicine and Neurogenetics, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.; Scalise R; Molecular Medicine and Neurogenetics, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.; Santorelli FM; Molecular Medicine and Neurogenetics, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.; Shillington A; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati, Cincinnati, OH.; Vezain M; Univ Rouen Normandie, Inserm U1245, Normandie Univ, Rouen, France.; Martinovic J; Department of Fetal Pathology, AP-HP Antoine Beclere Hospital, University Paris Saclay, Clamart, France.; Stevens C; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi institute of child health, Bangalore, India.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi institute of child health, Bangalore, India.; Thiffault I; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO; University of Missouri Kansas City School of Medicine, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO.; Pastinen T; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO; University of Missouri Kansas City School of Medicine, Kansas City, MO.; Baranano K; Johns Hopkins University, The Johns Hopkins Hospital, Baltimore, MD.; Lee A; Department of Pediatrics, Division of Genetics and Genomics, Washington University, Saint Louis, MO.; Granadillo J; Department of Pediatrics, Division of Genetics and Genomics, Washington University, Saint Louis, MO.; Glassford MR; Department of Pediatrics, Division of Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.; Keegan CE; Department of Pediatrics, Division of Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI.; Matthews N; WVU Medicine Children's Hospital, Division of Genetics, Morgantown, WV.; Saugier-Veber P; Univ Rouen Normandie, Inserm U1245, Normandie Univ, Rouen, France; CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France.; Iglesias T; Instituto de Investigaciones Biomédicas Sols-Morreale. Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III. Madrid, Spain. Electronic address: tiglesias@iib.uam.es.; Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE