부산대학교 도서관

Albuainain F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Venema M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Huigen G; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van Ham TJ; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.

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

Maroni MJ; Neuroscience Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Barton M; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lynch K; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Deshwar AR; Program in Developmental and Stem Cell Biology, Sickkids Research Institute, Toronto, ON M5G 0A4, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada.; Campbell PD; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Millard J; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lee R; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Cohen A; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Ahmad R; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Paranjapye A; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago 7830490, Chile.; Repetto GM; Rare Diseases Program, Center for Genetics and Genomics, Institute for Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Las Condes 7610671, Chile.; McKenna C; Northern Ireland Regional Genetics Service, Belfast BT9 7AB, Northern Ireland.; Shillington AL; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Phornphutkul C; Division of Human Genetics, Rhode Island Hospital, Providence, RI 0290, USA.; Hove HB; Member of ERNBond, Rare Diseases Unit, Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen 2100, Denmark.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Richmond CM; Genetic Health Queensland, Royal Brisbane & Women's Hospital, Herston, Queensland 4006, Australia.; School of Medicine, Griffith University, Gold Coast, Queensland 4215, Australia.; Lauzon J; Alberta Children's Hospital, Calgary AB Canada Department of Medical Genetics, Cummings School of Medicine, University of Calgary, Calgary AB T2N 1N4, Canada.; Ibrahim AIE; Brody School of Medicine, East Carolina University, Greenville, NC 27834, USA.; Nava C; Institut du Cerveau-Paris Brain Institute-ICM, Sorbonne Université, Inserm, CNRS, Hôpital Pitié Salpêtrière, 75013 Paris, France.; Département de Génétique, Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Hôpital Pitié-Salpêtrière, 75651 Paris, France.; Héron D; Département de Génétique, Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Hôpital Pitié-Salpêtrière, 75651 Paris, France.; van Aalst MMA; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia 1612, Bulgaria.; Sleptsova M; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia 1612, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia 1431, Bulgaria.; Aleksandrova I; Clinic of Child Neurology, MHATNP 'St. Naum', Medical University Sofia, Sofia 1431, Bulgaria.; Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia 1612, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia 1431, Bulgaria.; Watkins DL; Department of Genetics, McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.; Kozenko MA; Department of Genetics, McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.; Natera-de Benito D; Neuromuscular Unit, Hospital Sant Joan de Deu, Barcelona 08950, Spain.; Ortez C; Neuromuscular Unit, Hospital Sant Joan de Deu, Barcelona 08950, Spain.; Estevez-Arias B; Neuromuscular Unit, Hospital Sant Joan de Deu, Barcelona 08950, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Institut de Recerca Sant Joan de Deu, Barcelona 08950, Spain.; Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Rouen 76000, France.; Cassinari K; Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Rouen 76000, France.; Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Rouen 76000, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris 75019, France.; Laboratoire de biologie médicale multisites SeqOIA-FMG2025, Paris 75014, France.; Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, Paris 75019, France.; Laboratoire de biologie médicale multisites SeqOIA-FMG2025, Paris 75014, France.; Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, Paris 75019, France.; Laboratoire de biologie médicale multisites SeqOIA-FMG2025, Paris 75014, France.; Innes AM; University of Calgary Department of Medical Genetics, Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Yang XR; University of Calgary Department of Medical Genetics, Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Vill K; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich 80539, Germany.; Jacob M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Skidmore P; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; College of Health Solutions, Arizona State University, Tempe, AZ 85287, USA.; Galaz-Montoya CI; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Genetics, GIDP PhD Program, Tucson, AZ 85721, 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, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Mester JL; GeneDx, Gaithersburg, MD 20877, USA.; Granato M; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Armache KJ; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada.; Korb E; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, 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

Fasham, James; Huebner, Antje K; Liebmann, Lutz; Khalaf-Nazzal, Reham; Maroofian, Reza; Kryeziu, Nderim; Wortmann, Saskia B; Leslie, Joseph S; Ubeyratna, Nishanka; Mancini, Grazia M S; Slegtenhorst, Marjon van; Wilke, Martina; Haack, Tobias B; Shamseldin, Hanan E; Gleeson, Joseph G; Almuhaizea, Mohamed; Dweikat, Imad; Abu-Libdeh, Bassam; Daana, Muhannad; Zaki, Maha S

Brain: A Journal of Neurology. Nov2023, Vol. 146 Issue 11, p4547-4561. 15p.

Rahimi MJ; Urban N; Wegler M; Sticht H; Schaefer M; Popp B; Gaunitz F; Morleo M; Nigro V; Maitz S; Mancini GMS; Ruivenkamp C; Suk EK; Bartolomaeus T; Merkenschlager A; Koboldt D; Bartholomew D; Stegmann APA; Sinnema M; Duynisveld I; Salvarinova R; Race S; de Vries BBA; Trimouille A; Naudion S; Marom D; Hamiel U; Henig N; Demurger F; Rahner N; Bartels E; Hamm JA; Putnam AM; Person R; Jamra RA; Oppermann H

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; In Process

Chen J; Department of Cell Biology, Faculty of Medicine and Dentistry, Edmonton, AB T6G 2H7, Canada.; Yap MC; Department of Cell Biology, Faculty of Medicine and Dentistry, Edmonton, AB T6G 2H7, Canada.; Bassot A; Department of Cell Biology, Faculty of Medicine and Dentistry, Edmonton, AB T6G 2H7, Canada.; Pascual DM; Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada; Children's Hospital Research Institute of Manitoba (CHRIM), University of Manitoba, Winnipeg, MB, Canada.; Makio T; Department of Cell Biology, Faculty of Medicine and Dentistry, Edmonton, AB T6G 2H7, Canada.; Zimmermann J; Zentrum für Human- und Molekularbiologie (ZHMB), Universität des Saarlandes, Biochemie Campus, Geb. B2.2, Saarbrücken 66123, Germany.; Mast H; Faculty Saint-Jean, Department of Medicine, Faculty of Medicine and Dentistry, Edmonton, AB T6G2H7, Canada.; Bhat R; Precision Biolaboratories, St. Albert, AB T8N 5A7, Canada.; Fleury SG; Department of Cell Biology, Faculty of Medicine and Dentistry, Edmonton, AB T6G 2H7, Canada.; Fan Y; Department of Cell Biology, Faculty of Medicine and Dentistry, Edmonton, AB T6G 2H7, Canada.; Buzatto AZ; Department of Chemistry, University of Alberta, Edmonton, AB, Canada.; Moore J; Alberta Proteomics and Mass Spectrometry Facility, University of Alberta, 4096 Katz Research Building, Edmonton, AB T6G2E1, Canada.; Ballanyi K; Department of Physiology, University of Alberta, Edmonton, AB T6G2H7, Canada.; Li L; Department of Chemistry, University of Alberta, Edmonton, AB, Canada.; Overduin M; Department of Biochemistry, University of Alberta, Edmonton, AB T6G 2H7, Canada.; Lemieux MJ; Department of Biochemistry, University of Alberta, Edmonton, AB T6G 2H7, Canada; Li Ka Shing Institute of Virology, University of Alberta, Edmonton, AB T6G 2E1, Canada.; Lemieux H; Faculty Saint-Jean, Department of Medicine, Faculty of Medicine and Dentistry, Edmonton, AB T6G2H7, Canada.; Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands.; Morgan B; Zentrum für Human- und Molekularbiologie (ZHMB), Universität des Saarlandes, Biochemie Campus, Geb. B2.2, Saarbrücken 66123, Germany.; Marcogliese PC; Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada; Children's Hospital Research Institute of Manitoba (CHRIM), University of Manitoba, Winnipeg, MB, Canada; Excellence in Neurodevelopment and Rehabilitation Research in Child Health (ENRRICH) Theme, Winnipeg, MB, Canada.; Simmen T; Department of Cell Biology, Faculty of Medicine and Dentistry, Edmonton, AB T6G 2H7, Canada. Electronic address: thomas.simmen@ualberta.ca.

Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

Dominik N; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Efthymiou S; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Record CJ; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Miao X; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada.; Lin RQ; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Parmar JM; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.; Scardamaglia A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Maroofian R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Lowe SA; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.; Aughey GN; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.; Wilson AD; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.; Curro R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Schnekenberg RP; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Alavi S; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Leclaire L; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada.; He Y; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada.; Zhelcheska K; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Bellaïche Y; Institut Curie, Université PSL, Sorbonne Université, CNRS UMR3215, INSERM U934, Genetics and Developmental Biology, 75005 Paris, France.; Gaugué I; Institut Curie, Université PSL, Sorbonne Université, CNRS UMR3215, INSERM U934, Genetics and Developmental Biology, 75005 Paris, France.; Skorupinska M; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, and.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Da'as SI; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Turchetti V; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Güngör S; Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Pediatric Neurology, Malatya, Turkey.; Monahan GV; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.; Ghayoor Karimiani E; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.; Jamshidi Y; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.; Lamont PJ; Royal Perth Hospital, Perth, Western Australia, Australia.; Armirola-Ricaurte C; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Topaloglu H; Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey.; Jordanova A; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria.; Zaman M; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh.; Banu SH; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh.; Marques W; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.; Tomaselli PJ; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto, Brazil.; Aynekin B; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey.; Cansu A; Department of Pediatric Neurology, Faculty of Medicine, Farabi Hospital, Karadeniz Technical University, Trabzon, Turkey.; Per H; Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey.; Güleç A; Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey.; Alvi JR; Children's Hospital & the Institute of Child Health, Lahore, Pakistan.; Sultan T; Children's Hospital & the Institute of Child Health, Lahore, Pakistan.; Khan A; Neuropedia Children's Neuroscience Center, Dubai, United Arab Emirates.; Fakeeh University Hospital, Dubai, United Arab Emirates.; Kids Neuro Clinic, Dubai, United Arab Emirates.; Zifarelli G; CENTOGENE GmbH, Rostock, Germany.; Ibrahim S; Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan.; Mancini GMS; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Motazacker MM; Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Brusse E; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Lupo V; Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.; Sevilla T; Hospital Universitari i Politècnic La Fe & IIS La Fe, Neuromuscular Diseases Unit, Department of Neurology, Valencia, Spain.; Universitat de València, Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Başak AN; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey.; Tekgul S; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey.; Palvadeau RJ; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey.; Baets J; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Parman Y; Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Çakar A; Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Horvath R; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.; Haack TB; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics.; Stahl JH; Department of Epileptology, Center of Neurology, and.; Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Grundmann-Hauser K; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics.; Park J; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics.; Zuchner S; John P. Hussman Institute for Human Genomics and.; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.; Laing NG; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.; Wilson LA; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Rossor AM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Polke J; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom.; Figueiredo FB; Mendelics Genomic Analysis, São Paulo, São Paulo, Brazil.; Pessoa A; Universidade Federal Do Ceara - UFC and Hospital Infantil Albert Sabin, Fortaleza, Brazil.; Kok F; Mendelics Genomic Analysis, São Paulo, São Paulo, Brazil.; Coimbra-Neto AR; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.; Department of Neurology, School of Medicine, Centro Universitário Uninovafapi - UNINOVAFAPI, Teresina, Piauí, Brazil.; Franca MC Jr; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.; Ravenscroft G; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.; Hamed SA; Department of Neurology and Psychiatry, Faculty of Medicine, Assiut University, Assiut, Egypt.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Pittman AM; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.; Osborn DP; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.; Hanna M; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Cortese A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Reilly MM; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Jepson JE; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.; Lamarche-Vane N; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada.; Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Dekker J; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands. Electronic address: j.dekker.1@erasmusmc.nl.; Schot R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Departments of Pediatrics and Neurology, University of Washington, Seattle, WA 98105, USA.; Everman DB; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Washington C; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Jones JR; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.; Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.; Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.; Vitobello A; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France.; Denommé-Pichon AS; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France.; Mosca-Boidron AL; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France.; Perrin L; Département de Génétique, Hôpital Robert Debré, 75019 Paris, France.; Auvin S; Université Paris-Cité, INSERM NeuroDiderot, APHP, Robert Debré University Hospital, Pediatric Neurology Department, CRMR Epilepsies rares, EpiCare member, Institut Universitaire de France, (IUF), Paris, France.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Gleeson JG; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA.; Meave N; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA.; Wallace C; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA.; Nambot S; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU de Dijon, Dijon, France.; Delanne J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU de Dijon, Dijon, France.; Ruggiero SM; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Helbig I; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Fitzgerald MP; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Leventer RJ; Department of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Melbourne, Parkville VIC 3052, Australia.; Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, St. Louis, MO 63110, USA.; Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Prakash S; Phoenix Children's Hospital, Department of Genetics & Metabolism, 1919 East Thomas Road, Rosenberg Building, Suite 304, Phoenix, AZ 85016, USA.; Neilson DE; Phoenix Children's Hospital, Department of Genetics & Metabolism, 1919 East Thomas Road, Rosenberg Building, Suite 304, Phoenix, AZ 85016, USA; University of Arizona College of Medicine-Phoenix, Department of Child Health, 475 N. 5th Street, Phoenix, AZ 85004, USA.; Nicita F; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy.; Sferra A; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy.; Bertini ES; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy.; Aiello C; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Brockmann K; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Children's Hospital, University Medical Center, Göttingen, Germany.; Kuranov AB; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.; Kaulfuss S; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.; Basit S; Department of Biochemistry and Molecular Medicine, College of Medicine, Taibah University, Almadinah Almunawwarah, Saudi Arabia.; Alluqmani M; Department of Neurology, College of Medicine, Taibah University, Almadinah Almunawwarah, Saudi Arabia.; Almatrafi A; Department of Biology, College of Science, Taibah University, Almadinah Almunawwarah, Saudi Arabia.; Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Guimond C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Mohammed F; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India.; Sharma P; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India.; Goel D; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India; Department of Pharmacology, School of Pharmaceutical Education & Research (SPER), Jamia Hamdard, New Delhi 110062, India.; Wirth T; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Anheim M; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France; Centre de Référence des Maladies Neurogénétiques Rares, Strasbourg, France.; Bahena P; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Koparir A; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Kolokotronis K; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Vona B; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany.; Haaf T; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Kunstmann E; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Sczakiel HL; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany; RG Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.; Boschann F; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany.; Misra-Isrie M; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Stolerman ES; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Mergler S; Medical Department ASVZ, Care and Service Center for People with Intellectual Disabilities, Sliedrecht, the Netherlands; Department of General Practice and Intellectual Disability Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.; Zarate YA; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA.; Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Tajsharghi H; School of Health Sciences, Biomedicine Division, University of Skovde, Skovde, Sweden.; Zeidler S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Cappuccio G; Department of Pediatrics -Neurology, Baylor College of Medicine, Houston, TX 77030, USA.; Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.; Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Swols DM; Division of Clinical and Translational Genetics, Dr. John T Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.; Tekin M; Division of Clinical and Translational Genetics, Dr. John T Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.; Upadia J; Hayward Genetics Center, Department of Pediatrics, Tulane University School of Medicine, New Orleans, LA, USA.; Martin DM; Departments of Pediatrics and Human Genetics, the University of Michigan Medical School, Ann Arbor, MI, USA.; Craven D; Department of Pediatric Pulmonology, Rainbow Babies and Children's Hospital, Cleveland, OH, USA.; Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.; van de Pol LA; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit location, Amsterdam, the Netherlands.; D'Arco F; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Margot H; Service de génétique médicale, CHU de Bordeaux, Bordeaux, France.; Wilke M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Yousefi S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; van Veghel-Plandsoen MM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Aronica E; Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Department of (Neuro)Pathology, Amsterdam, the Netherlands; Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede, the Netherlands.; Anink J; Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Department of (Neuro)Pathology, Amsterdam, the Netherlands.; Rogers SL; Department of Biology and Integrative Program for Biological and Genome Sciences, University of North Carolina, Chapel Hill, NC 27599, USA.; Slep KC; Department of Biology, University of North Carolina, Chapel Hill, NC 27599, USA.; Doherty D; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55455, USA.; Mancini GMS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.

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

Smits DJ; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. d.smits@erasmusmc.nl.; Debuy C; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Brooks AS; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Ferraro F; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Rots D; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Verhoeven VJM; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Donker Kaat L; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Kant SG; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Demirdas S; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Zeidler S; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Dooren MF; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Donze SH; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Sleutels F; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Drost M; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Brüggenwirth HT; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Minkelen R; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Goverde A; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Hol JA; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van de Laar IMBH; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Ierland Y; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Kievit A; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van der Schoot V; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Stuurman KE; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Wessels MW; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Ham TJ; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Kleefstra T; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Center for Neuropsychiatry, Vincent van Gogh, Venray, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.

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

Furia F; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark.; Levy AM; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark.; Theunis M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA.; Bartos MN; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Brancati F; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Human Functional Genetics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Roma, Rome, Italy.; Cejudo L; CHU de Poitiers, Service de Génétique, Poitiers, France.; Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA.; De Luca C; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Dean SJ; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Egense A; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA.; Goel H; General Genetics Service, Hunter Genetics, Waratah, New South Wales, Australia.; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia.; Guenzel AJ; GeneDx Inc., Gaithersburg, Maryland, USA.; Hüffmeier U; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany.; Legius E; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Marcos-Alcalde I; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain.; Niclass T; CHU de Poitiers, Service de Génétique, Poitiers, France.; Planes M; Service de Génétique Clinique, CHRU de Brest, Brest, France.; Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France.; Ros-Pardo D; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain.; Rouault K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany.; Shen JJ; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA.; Tao AM; Vagelos School of Physicians and Surgeons, Columbia University, New York, New York, USA.; Thiffault I; Department of Pathology, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Laboratory for the Genetics of Cognition, KU Leuven, Leuven, Belgium.; Wentzensen IM; GeneDx Inc., Gaithersburg, Maryland, USA.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark.; Gomez-Puertas P; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Gardella E; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark.; Department of Neurophysiology, The Danish Epilepsy Centre, Dianalund, Denmark.; Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

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

Smits, Daphne J; Schot, Rachel; Krusy, Nathalie; Wiegmann, Katja; Utermöhlen, Olaf; Mulder, Monique T; den Hoedt, Sandra; Yoon, Grace; Deshwar, Ashish R; Kresge, Christina; Pletcher, Beth; van Mook, Maura; Ferreira, Marta Serio; Poot, Raymond A; Slotman, Johan A; Kremers, Gert-Jan; Ahmad, Abeer; Albash, Buthaina; Bastaki, Laila; Marafi, Dana; Dekker, Jordy; van Ham, Tjakko J; Nguyen, Laurent; Mancini, Grazia M S

Brain

Dekker, Jordy; Schot, Rachel; Bongaerts, Michiel; de Valk, Walter G; van Veghel-Plandsoen, Monique M; Monfils, Kathryn; Douben, Hannie; Elfferich, Peter; Kasteleijn, Esmee; van Unen, Leontine M A; Geeven, Geert; Saris, Jasper J; van Ierland, Yvette; Verheijen, Frans W; van der Sterre, Marianne L T; Sadeghi Niaraki, Farah; Smits, Daphne J; Huidekoper, Hidde H; Williams, Monique; Wilke, Martina; Verhoeven, Virginie J M; Joosten, Marieke; Kievit, Anneke J A; van de Laar, Ingrid M B H; Hoefsloot, Lies H; Hoogeveen-Westerveld, Marianne; Nellist, Mark; Mancini, Grazia M S; van Ham, Tjakko J

The American Journal of Human Genetics. 110:251-272

Dekker J; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; Lam W; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; van der Linde HC; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; Ophorst F; Department of Pathology, Optical Imaging Center, Erasmus MC University Medical Center Rotterdam, 3000 CA, Rotterdam, The Netherlands.; de Konink C; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; Erfelijke Neuro-Cognitieve Ontwikkelingsstoornissen, Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands.; Department of Neuroscience, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands.; Schot R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; Kremers GJ; Department of Pathology, Optical Imaging Center, Erasmus MC University Medical Center Rotterdam, 3000 CA, Rotterdam, The Netherlands.; Sanderson LE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; Berdowski WM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; van Woerden GM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; Erfelijke Neuro-Cognitieve Ontwikkelingsstoornissen, Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands.; Department of Neuroscience, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands.; Mancini GMS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; van Ham TJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.

Publisher: Company Of Biologists Limited Country of Publication: England NLM ID: 8701744 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-9129 (Electronic) Linking ISSN: 09501991 NLM ISO Abbreviation: Development Subsets: MEDLINE

Roscioli, Tony; Kamsteeg, Erik-Jan; Buysse, Karen; Maystadt, Isabelle; van Reeuwijk, Jeroen; van den Elzen, Christa; van Beusekom, Ellen; Riemersma, Moniek; Pfundt, Rolph; Vissers, Lisenka E L M; Schraders, Margit; Altunoglu, Umut; Buckley, Michael F; Brunner, Han G; Grisart, Bernard; Zhou, Huiqing; Veltman, Joris A; Gilissen, Christian; Mancini, Grazia M S; Delrée, Paul

Nature Genetics. May2012, Vol. 44 Issue 5, p581-585. 5p.

Rivière, Jean-Baptiste; van Bon, Bregje W M; Hoischen, Alexander; Kholmanskikh, Stanislav S; O'Roak, Brian J; Gilissen, Christian; Gijsen, Sabine; Sullivan, Christopher T; Christian, Susan L; Abdul-Rahman, Omar A; Atkin, Joan F; Chassaing, Nicolas; Drouin-Garraud, Valerie; Fry, Andrew E; Fryns, Jean-Pierre; Gripp, Karen W; Kempers, Marlies; Kleefstra, Tjitske; Mancini, Grazia M S; Nowaczyk, Ma?gorzata J M

Nature Genetics. Apr2012, Vol. 44 Issue 4, p440-444. 5p. 1 Color Photograph, 1 Diagram, 3 Charts, 1 Graph.

Rahimi, Meer Jacob; Urban, Nicole; Wegler, Meret; Sticht, Heinrich; Schaefer, Michael; Popp, Bernt; Gaunitz, Frank; Morleo, Manuela; Nigro, Vincenzo; Maitz, Silvia; Mancini, Grazia M S; Ruivenkamp, Claudia; Suk, Eun-Kyung; Bartolomaeus, Tobias; Merkenschlager, Andreas; Koboldt, Daniel; Bartholomew, Dennis; Stegmann, Alexander P A; Sinnema, Margje; Duynisveld, Irma; Salvarinova, Ramona; Race, Simone; de Vries, Bert B A; Trimouille, Aurélien; Naudion, Sophie; Marom, Daphna; Hamiel, Uri; Henig, Noa; Demurger, Florence; Rahner, Nils; Bartels, Enrika; Hamm, J Austin; Putnam, Abbey M; Person, Richard; Abou Jamra, Rami; Oppermann, Henry

The American Journal of Human Genetics. 109:944-952

Maroni MJ; Neuroscience Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Barton M; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lynch K; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Deshwar AR; Program in Developmental and Stem Cell Biology, Sickkids Research Institute, Toronto, ON M5G 0A4, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, M5G 0A4 Canada.; Campbell PD; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Millard J; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lee R; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Cohen A; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Ahmad R; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Paranjapye A; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile 7830490.; Repetto GM; Rare Diseases Program, Center for Genetics and Genomics, Institute for Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Las Condes, Chile 7610671.; McKenna C; Northern Ireland Regional Genetics Service, Belfast, Belfast BT9 7AB, Northern Ireland.; Shillington AL; Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Phornphutkul C; Rhode Island Hospital, Providence, RI 0290, USA.; Hove HB; Rare Diseases Unit, Dept. of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. Member of ERNBond.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Richmond CM; Royal Brisbane & Women's Hospital, Herston, Queensland, 4006, Australia.; School of Medicine, Griffith University, Gold Coast, Queensland, 4215, Australia.; Lauzon J; Alberta Children's Hospital, Calgary AB Canada Department of Medical Genetics, Cummings School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada.; Ibrahim AIE; Brody school of medicine, Greenville, NC 27834, USA.; Nava C; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Hôpital Pitié Salpêtrière, Paris, France.; Assistance Publique- Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Héron D; Assistance Publique- Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; van Aalst MMA; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Sleptsova M; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.; Aleksandrova I; Clinic of Child Neurology, MHATNP 'St. Naum', Medical University-Sofia, Sofia, Bulgaria.; Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.; Watkins DL; Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.; Kozenko MA; Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.; Natera-de Benito D; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.; Ortez C; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.; Estevez-Arias B; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Institut de Recerca Sant Joan de Deu, 08950, Barcelona, Spain.; Lecoquierre F; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France.; Cassinari K; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France.; Guerrot AM; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France.; Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France.; Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France.; Innes AM; University of Calgary Department of Medical Genetics; Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Yang XR; University of Calgary Department of Medical Genetics; Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9WL Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, M13 9WL Manchester, UK.; Vill K; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, 80539, Munich, Germany.; Jacob M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, 81675, Munich, Germany.; Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Skidmore P; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; College of Health Solutions, Arizona State University, Tempe, AZ, 85287, USA.; Galaz-Montoya CI; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Genetics, GIDP PhD Program, Tucson, AZ, 85721, 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, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Mester JL; GeneDx, Gaithersburg, MD, 20877, USA.; Granato M; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Armache KJ; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, M5G 0A4 Canada.; Korb E; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Chopra, Maya; McEntagart, Meriel; Clayton-Smith, Jill; Platzer, Konrad; Shukla, Anju; Girisha, Katta M; Kaur, Anupriya; Kaur, Parneet; Pfundt, Rolph; Veenstra-Knol, Hermine; Mancini, Grazia M S; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Kortüm, Fanny; Hempel, Maja; Denecke, Jonas; Lehman, Anna; Kleefstra, Tjitske; Stuurman, Kyra E; Wilke, Martina; Thompson, Michelle L; Bebin, E Martina; Bijlsma, Emilia K; Hoffer, Mariette J V; Peeters-Scholte, Cacha; Slavotinek, Anne; Weiss, William A; Yip, Tiffany; Hodoglugil, Ugur; Whittle, Amy; diMonda, Janette; Neira, Juanita; Yang, Sandra; Kirby, Amelia; Pinz, Hailey; Lechner, Rosan; Sleutels, Frank; Helbig, Ingo; McKeown, Sarah; Helbig, Katherine; Willaert, Rebecca; Juusola, Jane; Semotok, Jennifer; Hadonou, Medard; Short, John; Yachelevich, Naomi; Lala, Sajel; Fernández-Jaen, Alberto; Pelayo, Janvier Porta; Klöckner, Chiara; Kamphausen, Susanne B; Abou Jamra, Rami; Arelin, Maria; Innes, A Micheil; Niskakoski, Anni; Amin, Sam; Williams, Maggie; Evans, Julie; Smithson, Sarah; Smedley, Damian; de Burca, Anna; Kini, Usha; Delatycki, Martin B; Gallacher, Lyndon; Yeung, Alison; Pais, Lynn; Field, Michael; Martin, Ellenore; Charles, Perrine; Courtin, Thomas; Keren, Boris; Iascone, Maria; Cereda, Anna; Poke, Gemma; Abadie, Véronique; Chalouhi, Christel; Parthasarathy, Padmini; Halliday, Benjamin J; Robertson, Stephen P; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T

American Journal of Human Genetics, 108, 6, pp. 1138-1150

Jeanne, Médéric; Demory, Hélène; Moutal, Aubin; Vuillaume, Marie-Laure; Blesson, Sophie; Thépault, Rose-Anne; Marouillat, Sylviane; Halewa, Judith; Maas, Saskia M; Motazacker, M Mahdi; Mancini, Grazia M S; van Slegtenhorst, Marjon A; Andreou, Avgi; Cox, Helene; Vogt, Julie; Laufman, Jason; Kostandyan, Natella; Babikyan, Davit; Hancarova, Miroslava; Bendova, Sarka; Sedlacek, Zdenek; Aldinger, Kimberly A; Sherr, Elliott H; Argilli, Emanuela; England, Eleina M; Audebert-Bellanger, Séverine; Bonneau, Dominique; Colin, Estelle; Denommé-Pichon, Anne-Sophie; Gilbert-Dussardier, Brigitte; Isidor, Bertrand; Küry, Sebastien; Odent, Sylvie; Redon, Richard; Khanna, Rajesh; Dobyns, William B; Bézieau, Stéphane; Honnorat, Jérôme; Lohkamp, Bernhard; Toutain, Annick; Laumonnier, Frédéric

American Journal of Human Genetics, vol 108, iss 5

Severino, Mariasavina; Geraldo, Ana Filipa; Utz, Norbert; Tortora, Domenico; Pogledic, Ivana; Klonowski, Wlodzimierz; Triulzi, Fabio; Arrigoni, Filippo; Mankad, Kshitij; Leventer, Richard J; Mancini, Grazia M S; Barkovich, James A; Lequin, Maarten H; Rossi, Andrea

Brain: A Journal of Neurology. Oct2020, Vol. 143 Issue 10, p2874-2894. 21p.

van der Laan, Liselot; Silva, Ananília; Kleinendorst, Lotte; Rooney, Kathleen; Haghshenas, Sadegheh; Lauffer, Peter; Alanay, Yasemin; Bhai, Pratibha; Brusco, Alfredo; de Munnik, Sonja; de Vries, Bert B A; Vega, Angelica Delgado; Engelen, Marc; Herkert, Johanna C; Hochstenbach, Ron; Hopman, Saskia; Kant, Sarina G; Kira, Ryutaro; Kato, Mitsuhiro; Keren, Boris; Kroes, Hester Y; Levy, Michael A; Lock-Hock, Ngu; Maas, Saskia M; Mancini, Grazia M S; Marcelis, Carlo; Matsumoto, Naomichi; Mizuguchi, Takeshi; Mussa, Alessandro; Mignot, Cyril; Närhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M; Trajkova, Slavica; van Bever, Yolande; José van den Boogaard, Marie; van der Smagt, Jasper J; Barakat, Tahsin Stefan; Alders, Mariëlle; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter

HGG Adv
HGG Advances, Vol 6, Iss 1, Pp 100380-(2025)
HGG Advances, 6, 1