부산대학교 도서관

El Ghaleb Y; Institute of Physiology, Medical University Innsbruck, Innsbruck, Austria.; Fernández-Quintero ML; Institute of Theoretical Chemistry, University of Innsbruck, Innsbruck, Austria.; Campiglio M; Institute of Physiology, Medical University Innsbruck, Innsbruck, Austria.; Tuluc P; Department of Pharmacology and Toxicology, University of Innsbruck, Innsbruck, Austria.; Höing AS; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Motazacker MM; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Jansen IE; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Elting MW; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Plomp AS; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Fischer AM; Institute of Theoretical Chemistry, University of Innsbruck, Innsbruck, Austria.; Department of Chemistry - BMC, Biochemistry, Uppsala University, Uppsala, Sweden.; Siu VM; Division of Medical Genetics, Department of Paediatrics, The University of Western Ontario, London, Ontario, Canada.; Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; German Center for Child and Adolescent Health (DZKJ), partner site Hamburg, Hamburg, Germany.; Flucher BE; Institute of Physiology, Medical University Innsbruck, Innsbruck, Austria.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Celli L; Department of Human Genetics, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.; Rare Bone Diseases Center, AOU Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Department of Materna Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.; Garrelfs MR; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Pediatric Endocrinology, Amsterdam UMC, University of Amsterdam and Vrije Universiteit, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Sakkers RJB; Department of Orthopedic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.; Elting MW; Department of Human Genetics, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Celli M; Rare Bone Diseases Center, AOU Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Department of Materna Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.; Bökenkamp A; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam, The Netherlands.; Smits C; Otolaryngology-Head and Neck Surgery, Section Ear and Hearing, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Public Health Research Institute, Amsterdam UMC, Amsterdam, The Netherlands.; Goderie T; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Otolaryngology-Head and Neck Surgery, Section Ear and Hearing, Amsterdam UMC, Amsterdam, The Netherlands.; Smit JM; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Plastic, Reconstructive- and Hand Surgery, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands.; Amsterdam Bone Centre, Amsterdam, The Netherlands.; Schwarte LA; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Anesthesiology, Amsterdam UMC, Amsterdam, The Netherlands.; Schober PR; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Anesthesiology, Amsterdam UMC, Amsterdam, The Netherlands.; Lubbers WD; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Anesthesiology, Amsterdam UMC, Amsterdam, The Netherlands.; Visser MC; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Neurology, Amsterdam University Medical Centre, Location AMC, Amsterdam, The Netherlands.; Kievit AJ; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Orthopedic Surgery and Sports Medicine, Amsterdam UMC Location AMC, Amsterdam, The Netherlands.; van Royen BJ; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Orthopedic Surgery and Sports Medicine, Amsterdam UMC Location AMC, Amsterdam, The Netherlands.; Amsterdam Movement Sciences Research Institute, Amsterdam, The Netherlands.; Gilijamse M; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Movement Sciences Research Institute, Amsterdam, The Netherlands.; Department of Oral and Maxillofacial Surgery, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Schreuder WH; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Oral and Maxillofacial Surgery, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rustemeyer T; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Dermato-Allergology and Occupational Dermatology, Amsterdam UMC, Amsterdam, The Netherlands.; Pramana A; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Center for Special Care in Dentistry, Department of Maxillofacial Prosthodontics, Stichting Bijzondere Tandheelkunde, Amsterdam, The Netherlands.; Hendrickx JJ; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Otolaryngolgy/Head and Neck Surgery, Amsterdam UMC Location VUMC, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Dahele MR; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Radiation Oncology, Amsterdam UMC, Location VUMC, Amsterdam, The Netherlands.; Saeed P; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Orbital center, Department of ophthalmology, Amsterdam UMC, Amsterdam, The Netherlands.; Moll AC; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Ophthalmology, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands.; Curro-Tafili KR; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Ophthalmology, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands.; Ghyczy EAE; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Ophthalmology, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands.; Dickhoff C; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Cardiothoracic Surgery, Amsterdam UMC Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; de Leeuw RA; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Obstetrics and Gynecology, Amsterdam UMC, Location AMC, Amsterdam, The Netherlands.; Bonjer JH; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Surgery, Amsterdam University Medical Centre, Amsterdam, The Netherlands.; Nieuwenhuijzen JA; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Urology, Amsterdam UMC Location VUMC, Amsterdam, The Netherlands.; Konings TC; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Cardiology, Amsterdam UMC, Location University of Amsterdam, Amsterdam, Netherlands.; Engelsman AF; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Surgery, Amsterdam University Medical Centre, Amsterdam, The Netherlands.; Eeckhout AM; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Psychiatry, Amsterdam UMC, Amsterdam, The Netherlands.; van den Aardweg JG; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Respiratory Medicine, Amsterdam UMC, Location AMC, Amsterdam, The Netherlands.; Thoral PJ; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Intensive Care Medicine, Center for Critical Care Computational Intelligence, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands.; Noske DP; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Neurosurgery, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Dubois L; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Oral and Maxillofacial Surgery, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Teunissen BP; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Radiology and Nuclear Medicine, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Semler O; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Wekre LL; TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Oslo, Norway.; Maasalu K; Department of Orthopaedics, University of Tartu, Tartu, Estonia.; Clinic of Orthopaedics, Tartu University Hospital, Tartu, Estonia.; Märtson A; Department of Orthopaedics, University of Tartu, Tartu, Estonia.; Clinic of Orthopaedics, Tartu University Hospital, Tartu, Estonia.; Sangiorgi L; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.; Versacci P; Department of Materna Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.; Riminucci M; Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.; Grammatico P; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.; Zambrano A; Rare Bone Diseases Center, AOU Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Department of Materna Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.; Martini L; Department of Orthopaedic and Traumatology, 'Sapienza' University of Rome, Rome, Italy.; Castori M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Botman E; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Westerheim I; Osteogenesis Imperfecta Federation Europe (OIFE), Heffen, Belgium.; Zhytnik L; Department of Human Genetics, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Department of Orthopaedics, University of Tartu, Tartu, Estonia.; Micha D; Department of Human Genetics, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Amsterdam Movement Sciences Research Institute, Amsterdam, The Netherlands.; Eekhoff EMW; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Amsterdam Bone Centre, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Amsterdam Movement Sciences Research Institute, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.

Publisher: Springer Verlag Country of Publication: United States NLM ID: 7905481 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0827 (Electronic) Linking ISSN: 0171967X NLM ISO Abbreviation: Calcif Tissue Int Subsets: MEDLINE

Medina EM; Department of Biology, University of Massachusetts, Amherst, MA 01003, USA.; Elting MW; Cluster for Quantitative and Computational Developmental Biology and the Department of Physics, North Carolina State University, Raleigh, NC 27695, USA.; Fritz-Laylin L; Howard Hughes Medical Institute and the Department of Biology, University of Massachusetts, Amherst, MA 01003, USA. Electronic address: lfritzlaylin@umass.edu.

Publisher: Cell Press Country of Publication: England NLM ID: 9107782 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0445 (Electronic) Linking ISSN: 09609822 NLM ISO Abbreviation: Curr Biol Subsets: MEDLINE

Mahoney T; Needham C; Hakeem R; Begley M; Medina CP; Elting MW

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Begley MA; Physics, North Carolina State University, Raleigh, North Carolina, USA.; Genetics, Rutgers University, Piscataway, NJ, USA.; Mahoney T; Physics, North Carolina State University, Raleigh, North Carolina, USA.; Medina CP; Physics, North Carolina State University, Raleigh, North Carolina, USA.; Zareiesfandabadi P; Physics, North Carolina State University, Raleigh, North Carolina, USA.; Biology, Duke University, Durham, NC, USA.; Rapp MB; Physics, North Carolina State University, Raleigh, North Carolina, USA.; Tirfe M; Physics, North Carolina State University, Raleigh, North Carolina, USA.; LeBlanc SJ; Physics, North Carolina State University, Raleigh, North Carolina, USA.; Betterton MD; Physics and Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder, Colorado, USA.; Elting MW; Physics, North Carolina State University, Raleigh, North Carolina, USA.; Cluster for Quantitative and Computational Developmental Biology, North Carolina State University, Raleigh, North Carolina, USA.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 101523844 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1949-3592 (Electronic) Linking ISSN: 19493592 NLM ISO Abbreviation: Cytoskeleton (Hoboken) Subsets: MEDLINE

Medina EM; Department of Biology, University of Massachusetts, Amherst, MA, 01003, United States.; Elting MW; Cluster for Quantitative and Computational Developmental Biology and the Department of Physics, North Carolina State University, Raleigh, NC, 27695, United States.; Fritz-Laylin L; Howard Hughes Medical Institute and the Department of Biology, University of Massachusetts, Amherst, MA, 01003, United States.; Lead contact.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Vos N; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; van der Laan L; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Russel PKM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Rooney K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada.; Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada.; Maas SM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.; de Vries BBA; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.; Pfundt R; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.; Elting MW; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; van Hagen JM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Verbeek NE; Department of Genetics, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.; Jongmans MCJ; Department of Genetics, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.; Lakeman P; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Rumping L; Center for Medical Genetics, Antwerp University Hospital, University of Antwerp, Drie Eikenstraat 655, 2650, Edegem, Belgium.; Bosch DGM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Vitobello A; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, FHU-TRANSLAD, Unité Fonctionnelle Innovation en Diagnostic Génomique Des Maladies Rares, 21000, Dijon, France.; Thauvin-Robinet C; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, FHU-TRANSLAD, Unité Fonctionnelle Innovation en Diagnostic Génomique Des Maladies Rares, 21000, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Déficiences Intellectuelles de Causes Rares», FHU-TRANSLAD, Dijon, France.; Faivre L; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs», FHU-TRANSLAD, Dijon, France.; Nambot S; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, FHU-TRANSLAD, Unité Fonctionnelle Innovation en Diagnostic Génomique Des Maladies Rares, 21000, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs», FHU-TRANSLAD, Dijon, France.; Garde A; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Déficiences Intellectuelles de Causes Rares», FHU-TRANSLAD, Dijon, France.; Willems M; INserm U1183, Department of Clinical Genetics, Montpellier University, 34090 CHU Montpellier, Montpellier, France.; Genevieve D; INserm U1183, Department of Clinical Genetics, Montpellier University, 34090 CHU Montpellier, Montpellier, France.; Nicolas G; Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, 76000, Rouen, France.; Busa T; Department of Medical Genetics, Timone Hospital, Marseille, France.; Toutain A; Genetics Department, University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France.; Gérard M; APHP, Department of Genetics, Robert Debré Hospital, 75019, Paris, France.; Bizaoui V; Clinical Genetics and Neurodevelopmental Disorders, Centre Hospitalier de L'Estran, 50170, Pontorson, France.; Isidor B; Service de Génétique Médicale, CHU de Nantes, 44000, Nantes, France.; Merla G; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131, Naples, Italy.; Accadia M; Servizio di Genetica Medica, Ospedale Cardinale G. Panico, Tricase, LE, Italy.; Schwartz CE; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, 49503, USA.; Ounap K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Nezarati MM; Genetics Program, North York General Hospital, Toronto, ON, M2K 1E1, Canada.; van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.; Tedder ML; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Rogers C; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Brusco A; Department of Medical Sciences, University of Torino, Via Santena 19, 10126, Turin, Italy.; Unit of Medical Genetics, Città Della Salute e Della Scienza Hospital, Turin, Italy.; Ferrero GB; Department of Clinical and Biological Science, University of Torino, Turin, Italy.; Spodenkiewicz M; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.; Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.; Mussa A; Department of Public Health and Pediatric Sciences, University of Torino, Turin, Italy.; Pediatric Clinical Genetics Unit, Regina Margherita Childrens' Hospital, Turin, Italy.; Trajkova S; Department of Medical Sciences, University of Torino, Via Santena 19, 10126, Turin, Italy.; McCann E; Liverpool Center for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.; Mroczkowski HJ; Department of Pediatrics, Le Bonheur Children's Hospital, Memphis, TN, USA.; Division of Genetics, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN, USA.; Jansen S; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Donker-Kaat L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Duijkers FAM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Mannens MMAM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Alders M; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Henneman P; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada. bekim.sadikovic@lhsc.on.ca.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada. bekim.sadikovic@lhsc.on.ca.; van Haelst MM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.; Amsterdam UMC, Department of Paediatrics, Emma Children's Hospital, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.; Amsterdam UMC, Emma Center for Personalized Medicine, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.

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

Kennis MGP; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. milou.kennis@radboudumc.nl.; Rots D; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Children's Clinical University Hospital, Riga, Latvia.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Ockeloen CW; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Boelen C; Department of Pediatrics, Admiraal De Ruyter Ziekenhuis, Goes, Zeeland, The Netherlands.; Marcelis CLM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; de Vries BBA; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Elting MW; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Waisfisz Q; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Suri M; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Font-Montgomery E; Department of Pediatrics/Genetics/Metabolism Disorders, Children's Hospital of Michigan, Detroit, MI, USA.; Peck DS; Department of Pediatrics, University of Missouri School of Medicine, Columbia, MO, USA.; Donnelly DE; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast, Northern Ireland.; Rogers RC; Greenwood Genetic Center, Greenwood, SC, USA.; Richardson R; Northern Genetics Service, Newcastle upon Tyne hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.; Caumes R; CHU Lille, Clinique de génétique Guy Fontaine, F-, 59000, Lille, France.; Chaumette B; Université Paris Cité, Institute of Psychiatry and Neurosciences of Paris (INSERM U1266), GHU Paris Psychiatrie et Neurosciences, Paris, France.; Louveau C; Université Paris Cité, Institute of Psychiatry and Neurosciences of Paris (INSERM U1266), GHU Paris Psychiatrie et Neurosciences, Paris, France.; Sallevelt SCEH; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, SA, Australia.; Maas SM; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Smits JJ; Department of Human Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van Haelst MM; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Levy RJ; Neurology and Neurological Sciences, Division of Child Neurology, Stanford University and Lucile Packard Children's Hospital, Palo Alto, California, USA.; Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Loeys BL; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.; Pfundt R; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Kleefstra T; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands.; Snijders Blok L; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. lot.snijdersblok@radboudumc.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

Loberti L; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Adamo L; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Antolini E; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Casamassima G; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Destrèe A; Institut de Pathologie et de Génétique, Gosselies, Belgium.; Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II', 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.; Genevieve D; Montpellier University and INSERM U1183, Montpellier, France; Reference Center for Malformative Syndrome and Developmental Anomalies, Clinical Genetics Unit, Montpellier University Hospital, ERN ITHACA, Montpellier, France.; Christophe P; 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.; Coubes C; Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Möllring AC; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Zenker M; Institute of Human Genetics, University Hospital, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.; Levy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Perrin L; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Tabet AC; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Maruani A; Excellence Centre for Autism & Neuro-developmental Disorders, Child and Adolescent Psychiatry Department, Robert Debré Hospital, Paris, and CRMR Déficiences intellectuelles et TND de causes rares-Robert-Debré, Paris, France.; Sorlin A; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.; Stieber D; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.; Herissant L; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.; Dahan K; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.; Sinibaldi L; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Capolino R; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Dentici ML; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Dallapiccola B; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Novelli A; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Piatelli G; U.O.C. Neurochirurgia, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Valenzuela I; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.; Digilio MC; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Caumes R; Service de Génétique Clinique, CHU Lille, Lille, France.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Chwiałkowska K; IMAGENE.ME SA, Bialystok, Poland; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Białystok, Poland.; Jezela-Stanek A; IMAGENE.ME SA, Bialystok, Poland; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.; Kwasniewski M; IMAGENE.ME SA, Bialystok, Poland; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Białystok, Poland.; Korotko U; IMAGENE.ME SA, Bialystok, Poland; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Białystok, Poland.; Gorzałczyńska E; IMAGENE.ME SA, Bialystok, Poland.; Canitano R; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena, Italy.; Grosso S; Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena, Italy.; Rahikkala E; Department of Clinical Genetics, Research Unit of Clinical Medicine, and Medical Research Center Oulu, University of Oulu, and Oulu University Hospital, Oulu, Finland.; Mattern L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Zuffardi O; Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Caputo V; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Toschi B; Medical Genetics Unit, Oncological Department, University Hospital of Pisa, Pisa, Italy.; Beunders G; University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; Leeuwen L; University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; Elting MW; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; van der Laan L; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Broekema MF; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Groffen AJ; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; van de Kamp JM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; van Haelst MM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Alders M; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Mauro SP; UOC Genetica Medica, Presidio Ospedaliero Vito Fazzi, Lecce, Italy.; De Razza F; UOC Genetica Medica, Presidio Ospedaliero Vito Fazzi, Lecce, Italy.; Varvara D; UOC Genetica Medica, Presidio Ospedaliero Vito Fazzi, Lecce, Italy.; Kick J; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Gaspar H; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Lausberg E; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Maier A; Department of Neurology, Medical Faculty RWTH Aachen University, Aachen, Germany.; Ruault V; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France.; Genesio R; Department of Molecular Medicine and Medical Biotechnology, Federico II University of Naples, Naples, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Tita R; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Bruttini M; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Longo I; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Baldassarri M; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Renieri A; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy. Electronic address: annamaria.pinto@dbm.unisi.it.

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

Madeo, M; Stewart, M; Sun, Y; Sahir, N; Wiethoff, S; Chandrasekar, I; Yarrow, A; Rosenfeld, JA; Yang, Y; Cordeiro, D; McCormick, EM; Muraresku, CC; Jepperson, TN; McBeth, LJ; Seidahmed, MZ; El Khashab, HY; Hamad, M; Azzedine, H; Clark, K; Corrochano, S; Wells, S; Elting, MW; Weiss, MM; Burn, S; Myers, A; Landsverk, M; Crotwell, PL; Waisfisz, Q; Wolf, NI; Nolan, PM; Padilla-Lopez, S; Houlden, H; Lifton, R; Mane, S; Singh, BB; Falk, MJ; Mercimek-Mahmutoglu, S; Bilguvar, K; Salih, MA; Acevedo-Arozena, A; Kruer, MC

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Bek-Tol, MC; Elting, MW; Berendse, HW

Bek-Tol, MC, Elting, MW & Berendse, HW 2016, 'PHARC: zeldzame oorzaak van polyneuropathie met ataxie', Tijdschrift voor Neurologie & Neurochirurgie, vol. 117, no. 3, pp. 103-108. < http://www.ariez.nl/artikelen.1206.lynkx?edition=&author=Elting&title=&keyword=&free=&event=search&tijdschrift=tnn >

Terhal PA; Nievelstein RJ; Verver EJ; Topsakal V; van Dommelen P; Hoornaert K; Le Merrer M; Zankl A; Simon ME; Smithson SF; Marcelis C; Kerr B; Clayton-Smith J; Kinning E; Mansour S; Elmslie F; Goodwin L; van der Hout AH; Veenstra-Knol HE; Herkert JC; Lund AM; Hennekam RC; Mégarbané A; Lees MM; Wilson LC; Male A; Hurst J; Alanay Y; Annerén G; Betz RC; Bongers EM; Cormier-Daire V; Dieux A; David A; Elting MW; van den Ende J; Green A; van Hagen JM; Hertel NT; Holder-Espinasse M; den Hollander N; Homfray T; Hove HD; Price S; Raas-Rothschild A; Rohrbach M; Schroeter B; Suri M; Thompson EM; Tobias ES; Toutain A; Vreeburg M; Wakeling E; Knoers NV; Coucke P; Mortier GR

Terhal, P A, Nievelstein, R J A J, Verver, E J J, Topsakal, V, van Dommelen, P, Hoornaert, K, Le Merrer, M, Zankl, A, Simon, M E H, Smithson, S F, Marcelis, C, Kerr, B, Clayton-Smith, J, Kinning, E, Mansour, S, Elmslie, F, Goodwin, L, van der Hout, A H, Veenstra-Knol, H E, Herkert, J C, Lund, A M, Hennekam, R C M, Megarbane, A, Lees, M M, Wilson, L C, Korteland-van Male, A, Hurst, J, Alanay, Y, Anneren, G, Betz, R C, Bongers, E M H F, Cormier-Daire, V, Dieux, A, David, A, Elting, M W, van den Ende, J, Green, A, van Hagen, J M, Hertel, N T, Holder-Espinasse, M, den Hollander, N, Homfray, T, Hove, H D, Price, S, Raas-Rothschild, A, Rohrbach, M, Schroeter, B, Suri, M, Thompson, E M, Tobias, E S, Toutain, A, Vreeburg, M, Wakeling, E, Knoers, N V, Coucke, P & Mortier, G R 2015, 'A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype', American Journal of Medical Genetics Part A, vol. 167, no. 3, pp. 461-475. https://doi.org/10.1002/ajmg.a.36922
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Verdonk SJE; Department of Internal Medicine Section Endocrinology, Amsterdam UMC Location Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Movement Sciences, Tissue Function and Regeneration, Amsterdam, The Netherlands.; Storoni S; Department of Internal Medicine Section Endocrinology, Amsterdam UMC Location Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Movement Sciences, Tissue Function and Regeneration, Amsterdam, The Netherlands.; Zhytnik L; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Movement Sciences, Tissue Function and Regeneration, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, The Netherlands.; Department of Traumatology and Orthopedics, University of Tartu, Tartu, Estonia.; Zhong W; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Movement Sciences, Tissue Function and Regeneration, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, The Netherlands.; Pals G; Department of Human Genetics, Amsterdam UMC Location Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, The Netherlands.; van Royen BJ; Department of Orthopedic Surgery and Sports Medicine, Amsterdam UMC Location University of Amsterdam and Location Vrije Universiteit Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Movement Sciences, Musculoskeletal Health, Amsterdam, The Netherlands.; Elting MW; Department of Human Genetics, Amsterdam UMC Location Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, The Netherlands.; Maugeri A; Department of Human Genetics, Amsterdam UMC Location Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, The Netherlands.; Eekhoff EMW; Department of Internal Medicine Section Endocrinology, Amsterdam UMC Location Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Amsterdam Movement Sciences, Tissue Function and Regeneration, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Micha D; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Movement Sciences, Tissue Function and Regeneration, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, The Netherlands.

Publisher: Springer Verlag Country of Publication: United States NLM ID: 7905481 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0827 (Electronic) Linking ISSN: 0171967X NLM ISO Abbreviation: Calcif Tissue Int Subsets: MEDLINE

Dumont, Sophie; Elting, MW; Hueschen, CL; Udy, DB

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Treurniet S; Department of Internal Medicine Section Endocrinology, Rare Bone Disease Center, Amsterdam, Movement Sciences, Amsterdam UMC, location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Bevers MSAM; Department of Internal Medicine, VieCuri Medical Center, Venlo, The Netherlands.; NUTRIM School for Nutrition and Translational Research in Metabolism, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Biomedical Engineering, Eindhoven University of Technology, Eindhoven, The Netherlands.; Wyers CE; Department of Internal Medicine, VieCuri Medical Center, Venlo, The Netherlands.; NUTRIM School for Nutrition and Translational Research in Metabolism, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Internal Medicine, Subdivision of Rheumatology, Maastricht University Medical Center, Maastricht, The Netherlands.; Micha D; Department of Human Genetics, Amsterdam Movement Sciences, Amsterdam Rare Bone Disease/Amsterdam Bone Center, Amsterdam University Medical Center, location Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, The Netherlands.; Teunissen BP; Department of Radiology and Nuclear Medicine, Amsterdam UMC, location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Elting MW; Department of Human Genetics, Amsterdam Movement Sciences, Amsterdam Rare Bone Disease/Amsterdam Bone Center, Amsterdam University Medical Center, location Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, The Netherlands.; van den Bergh JP; Department of Internal Medicine, VieCuri Medical Center, Venlo, The Netherlands.; NUTRIM School for Nutrition and Translational Research in Metabolism, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Internal Medicine, Subdivision of Rheumatology, Maastricht University Medical Center, Maastricht, The Netherlands.; Eekhoff EMW; Department of Internal Medicine Section Endocrinology, Rare Bone Disease Center, Amsterdam, Movement Sciences, Amsterdam UMC, location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.

Publisher: Springer Verlag Country of Publication: United States NLM ID: 7905481 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0827 (Electronic) Linking ISSN: 0171967X NLM ISO Abbreviation: Calcif Tissue Int Subsets: MEDLINE

Maia N; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.; Ibarluzea N; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Misra-Isrie M; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Koboldt DC; Steve and Cindy Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Marques I; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.; Soares G; Unidade de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal.; Santos R; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.; Marcelis CLM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Keski-Filppula R; Department of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Guitart M; Paediatric Unit, ParcTaulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, I3PTUniversitat Autònoma de Barcelona, Sabadell, Spain.; Gabau Vila E; Paediatric Unit, ParcTaulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, I3PTUniversitat Autònoma de Barcelona, Sabadell, Spain.; Lehman A; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Hickey S; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Mori M; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Nationwide Children's Hospital, Columbus, Ohio, USA.; Terhal P; Division Laboratories, Pharmacy and Biomedical Genetics, Wilhelmina Children's Hospital, Utrecht, The Netherlands.; Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Chhouk BH; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.; Yeh RC; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.; Neil JE; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.; Abu-Libde B; Makassed Hospital, Jerusalem, Israel.; Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Elting MW; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Császár A; Paediatric Ward, Hospital of Zala County, Zalaegerszeg, Hungary.; Kárteszi J; Genetic Counselling, Hospital of Zala County, Zalaegerszeg, Hungary.; Bessenyei B; Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.; van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Jorge P; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.; van Hagen JM; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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

Lannan J; Physics, North Carolina State University.; Floyd C; Chemistry, University of Chicago.; Xu LX; Chemical and Biomolecular Engineering, Georgia Institute of Technology.; Yan C; Biochemistry and Biophysics, University of California San Francisco.; Marshall WF; Biochemistry and Biophysics, University of California San Francisco.; Vaikuntanathan S; Chemistry, University of Chicago.; Dinner AR; Chemistry, University of Chicago.; Honts JE; Biology, Drake University.; Bhamla S; Chemical and Biomolecular Engineering, Georgia Institute of Technology.; Elting MW; Physics, North Carolina State University.; Cluster for Quantitative and Computational Developmental Biology, North Carolina State University.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Pranckeviciene E; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Barat-Houari M; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France.; Bargiacchi S; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; Biamino E; Department of Pediatrics, University of Turin, Turin, Italy.; Palomares Bralo M; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Cappuccio G; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Clarke A; Cardiff University School of Medicine, Cardiff, UK.; DuPont BR; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Elting MW; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Faivre L; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Fee T; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Ferilli M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Fletcher RS; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Cherick F; Genetic Medical Center, CHU Clermont Ferrand, France.; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, CHU Montpellier, Montpellier, France.; Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Gervasini C; Division of Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; Haghshenas S; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Hilton BA; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Jenkins Z; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Kaur S; Brain and Mitochondrial Research Group, Murdoch Children s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Lewis S; BC Children's and Women's Hospital and Department of Medical Genetics, Faculty of Medicine, University of British Columbia.; Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Maitz S; Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, Hospital San Gerardo, Monza, Italy.; Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Morgan AT; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Pallares NR; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France.; Piccione M; Medical Genetics Unit Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.; Plomp AS; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Poulton C; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Rius R; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Robertson S; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Rooney K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Rousseau J; CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada.; Santen GWE; Department of Clinical Genetics, LUMC, Leiden, The Netherlands.; Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Schijns J; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Squeo GM; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.; John MS; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Thauvin-Robinet C; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital D'Enfants, CHU Dijon Bourgogne, Dijon, France.; Traficante G; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; van der Sluijs PJ; Department of Clinical Genetics, LUMC, Leiden, The Netherlands.; Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Vos N; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Walden KK; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Azmanov D; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Perth, Australia.; Balci TB; Department of Pediatrics, Division of Medical Genetics, Western University, London, Ontario, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, Ontario, Canada.; Banka S; Division of Evolution, Infection & Genomics, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom.; Gecz J; School of Medicine, Robinson Research Institute, University of Adelaide, Adelaide, Australia.; South Australian Health and Medical Research Institute, Adelaide, Australia.; Henneman P; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Lee JA; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Mannens MMAM; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia.; Siu V; Department of Pediatrics, Division of Medical Genetics, Western University, London, Ontario, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, Ontario, Canada.; Amor DJ; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Baynam G; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Division of Paediatrics and Telethon Kids Institute, Faculty of Health and Medical Sciences, Perth, Australia.; Bend EG; PreventionGenetics, Marshfield, Wisconsin, USA.; Boycott K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Campeau PM; CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada.; Campion D; INSERM U1245, Faculté de Médecine, Rouen, France.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Esber N; KAT6A Foundation, New York, New York, USA.; Fahrner JA; Departments of Genetic Medicine and Pediatrics, Johns Hopkins University, Baltimore, Maryland, USA.; Fleming MD; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.; Genevieve D; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, CHU Montpellier, Montpellier, France.; Heron D; AP-HP, Département de Génétique Médicale, Groupe Hospitalier Pitié Salpétrière, Paris, France.; Husson T; Department of Genetics and Reference Center for Developmental Disorders, Normandie Université, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.; Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada.; McNeill A; Department of Neuroscience, University of Sheffield, UK, and Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.; Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Merla G; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Prontera P; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy.; Rockman-Greenberg C; Department of Pediatrics and Child Health, Rady Faculty of Health Sciences, University of Manitoba and Program in Genetics and Metabolism, Shared Health MB, Winnipeg, Manitoba, Canada.; Schwartz C; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Skinner SA; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Vincent M; Service de génétique Médicale, CHU Nantes, Nantes, France.; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.; Vitobello A; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.; Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Alders M; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Tedder ML; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.

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