부산대학교 도서관

Haanpää MK; Department of Clinical Genetics, Turku University Hospital, Turku, Finland.; Department of Medicine, Stanford School of Medicine, California, USA.; Haldeman-Englert CR; Cone Health, Greensboro, North Carolina, USA.; Hietala M; Department of Clinical Genetics, Turku University Hospital, Turku, Finland.; Tanverdi MS; Department of Pediatrics, University of Colorado, Colorado, USA.; Koty PP; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.; Brightman D; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Ophthalmology, University of Cincinnati College of Medicine, Ohio, USA.; Dosunmu E; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Ophthalmology, University of Cincinnati College of Medicine, Ohio, USA.; Tibrewal S; Shroff's Charity Eye Hospital, New Delhi, India.; Kaur S; Department of Ophthalmology, Pediatrics and Dentistry, Postgraduate Institute of Medical Education and Research, Chandigarh, India.; Kaur A; Department of Ophthalmology, Pediatrics and Dentistry, Postgraduate Institute of Medical Education and Research, Chandigarh, India.; Verma RK; Department of Ophthalmology, Pediatrics and Dentistry, Postgraduate Institute of Medical Education and Research, Chandigarh, India.; de Alba Campomanes AG; Department of Ophthalmology, University of California San Francisco, San Francisco, USA.; Utz V; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Ophthalmology, University of Cincinnati College of Medicine, Ohio, USA.; Slavotinek AM; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Ophthalmology, University of Cincinnati College of Medicine, Ohio, USA.; Department of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, California, USA.; Curry C; Department of Genetic Medicine, University of California, San Francisco, Fresno, California, USA.

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

Lavrichenko K; Oslo University Hospital, Oslo, Norway.; Engdal ES; Rigshospitalet, Copenhagen, Denmark.; Marvig RL; Rigshospitalet, Copenhagen, Denmark.; Jemt A; Karolinska University Hospital, Stockholm, Sweden.; Karolinska Institutet, Stockholm, Sweden.; Vignes JM; Haukeland University Hospital, Bergen, Norway.; Almusa H; Institute for Molecular Medicine Finland, Helsinki, Finland.; Saether KB; Karolinska Institutet, Stockholm, Sweden.; Briem E; Landspitali University Hospital, Reykjavik, Iceland.; Caceres E; Karolinska University Hospital, Stockholm, Sweden.; Karolinska Institutet, Stockholm, Sweden.; Elvarsdóttir EM; Landspitali University Hospital, Reykjavik, Iceland.; Gíslason MH; Rigshospitalet, Copenhagen, Denmark.; Haanpää MK; Turku University Hospital, Turku, Finland.; Henmyr V; Skåne University Hospital, Malmö, Sweden.; Hotakainen R; Helsinki University Hospital, Helsinki, Finland.; University of Helsinki, Helsinki, Finland.; Kaasinen E; Helsinki University Hospital, Helsinki, Finland.; University of Helsinki, Helsinki, Finland.; Kanninga R; University Medical Center Groningen, Groningen, Netherlands.; Khan S; Helsinki University Hospital, Helsinki, Finland.; University of Helsinki, Helsinki, Finland.; Lie-Nielsen MG; Haukeland University Hospital, Bergen, Norway.; Madsen MB; Rigshospitalet, Copenhagen, Denmark.; Mähler N; University Hospital of Umeå, Umeå, Sweden.; Maqbool K; Karolinska University Hospital, Stockholm, Sweden.; Neethiraj R; KTH Royal Institute of Technology, Stockholm, Sweden.; Nyrén K; Karolinska Institutet, Stockholm, Sweden.; Paavola M; Turku University Hospital, Turku, Finland.; Pruisscher P; Karolinska University Hospital, Stockholm, Sweden.; Karolinska Institutet, Stockholm, Sweden.; Sheng Y; Oslo University Hospital, Oslo, Norway.; Singh AK; Olav's University Hospital, Trondheim, Norway.; Srivastava A; Haukeland University Hospital, Bergen, Norway.; Stautland TK; Haukeland University Hospital, Bergen, Norway.; Andreasen DT; Aarhus University Hospital, Aarhus, Denmark.; de Boer ETB; Karolinska University Hospital, Stockholm, Sweden.; Karolinska Institutet, Stockholm, Sweden.; Vang S; Aarhus University Hospital, Aarhus, Denmark.; Wirta V; Karolinska University Hospital, Stockholm, Sweden.; Karolinska Institutet, Stockholm, Sweden.; Bagger FO; Rigshospitalet, Copenhagen, Denmark. frederik.otzen.bagger@regionh.dk.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukáš; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-González, Anna Maria; Trujillano, Laura; Valenzuela, Irene; Tizzano, Eduardo F; Spinelli, Alessandro Mauro; Bruno, Irene; Currò, Aurora; Stanzial, Franco; Benedicenti, Francesco; Lopergolo, Diego; Santorelli, Filippo Maria; Aristidou, Constantia; Tanteles, George A; Maystadt, Isabelle; Tkemaladze, Tinatin; Reimand, Tiia; Lokke, Helen; Õunap, Katrin; Haanpää, Maria K; Holubová, Andrea; Zoubková, Veronika; Schwarz, Martin; Žordania, Riina; Muru, Kai; Roht, Laura; Tihveräinen, Annika; Teek, Rita; Thomson, Ulvi; Isis, Atallah; Superti-Furga, Andrea; Buoni, Sabrina; Canitano, Roberto; Scandurra, Valeria; Rossetti, Annalisa; Grosso, Salvatore; Battini, Roberta; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Rizzo, Caterina Lo; Bruttini, Mirella; Mari, Francesca; Ariani, Francesca; Renieri, Alessandra; Pinto, Anna Maria

Hum Mol Genet
Loberti, L, Bruno, L P, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L A, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A M, Trujillano, L, Valenzuela, I, Tizzano, E F, Spinelli, A M, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F M, Aristidou, C, Tanteles, G A, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M K, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Atallah, I, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M A, Rizzo, C L, Bruttini, M, Mari, F, Ariani, F, Renieri, A & Pinto, A M 2022, 'Natural history of KBG syndrome in a large European cohort', Human Molecular Genetics, vol. 31, no. 24, pp. 4131-4142. https://doi.org/10.1093/hmg/ddac167
Human molecular genetics, Vol. 31, no.24, p. 4131-4142 (2022)
Human molecular genetics, vol. 31, no. 24, pp. 4131-4142

Romano F; Clinical Genomics and Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Haanpää MK; Department of Genomics and Clinical Genetics, Turku University Hospital, Turku, Finland.; Pomianowski P; Center for Medical Genetics and Genomics, Christiana Care Health System, Newark, Delaware, USA.; Peraino AR; Center for Medical Genetics and Genomics, Christiana Care Health System, Newark, Delaware, USA.; Pollard JR; Epilepsy Center, Christiana Care Health System, Newark, Delaware, USA.; Di Feo MF; Clinical Genomics and Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Genomics and Clinical Genetics, Turku University Hospital, Turku, Finland.; Center for Medical Genetics and Genomics, Christiana Care Health System, Newark, Delaware, USA.; Epilepsy Center, Christiana Care Health System, Newark, Delaware, USA.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Traverso M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Derchi M; Cardiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Henzen E; Genomics Facility, Italian Institute of Technology (IIT), Genoa, Italy.; Zara F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Faravelli F; Clinical Genomics and Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Capra V; Clinical Genomics and Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Scala M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.

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

Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Abou Jamra, Rami; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncan, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E L M; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Åsmund Myge; Smeland, Marie Falkenberg; Butler, Kameryn M; Lyons, Michael J; Carvalho, Claudia M B; Zhang, Chaofan; Lupski, James R; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda Zghal; McCormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca; Zara, Federico; Writzl, Karin; Maver, Aleš; Haanpää, Maria K; Pohjola, Pia; Arikka, Harri; Kievit, Anneke J A; Calandrini, Camilla; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre

Genome Med
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Genome Medicine, 16, 1
Genome medicine, vol. 16, no. 1, pp. 72

Kassabian B; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center Filadelfia, member of the European Reference Network EpiCARE, Dianalund, Denmark.; Neurology Unit, Department of Neurosciences, University of Padua, Padua, Italy.; Levy AM; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Gardella E; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center Filadelfia, member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Aledo-Serrano A; Epilepsy and Neurogenetics Unit, Vithas la Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain.; Ananth AL; Division of Pediatric Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Brea-Fernández AJ; Grupo de Genómica y Bioinformática, Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS), Centro de Investigación Biomédica en Red de Enfermedades Raras del Instituto de Salud Carlos III (CIBERER-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Grupo de Genética, Fundación Pública Galega de Medicina Xenómica, Instituto de Investigación Biomédica de Santiago (IDIS), Santiago de Compostela, Spain.; Caumes R; CHU de Lille, Clinique de Génétique, Lille, France.; Chatron N; Service de Genetique, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Centre National de la recherche scientifique (CNRS) Unité mixte de recherche (UMR) 5261- L'Institut national de la santé et de la recherche médicale (INSERM) U1315, Université de Lyon-Université Claude Bernard Lyon 1, Lyon, France.; Dainelli A; Neuroscience Department, Meyer Children's Hospital IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), member of the European Reference Network EpiCARE, Florence, Italy.; De Wachter M; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Denommé-Pichon AS; Functional Unit for Diagnostic Innovation in Rare Diseases, Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement (FHU-TRANSLAD), Dijon Bourgogne University Hospital, Dijon, France.; L'Institut national de la santé et de la recherche médicale (INSERM) Unité mixte de recherche (UMR) 1231, Génétique des Anomalies du Développement (GAD), Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement (FHU-TRANSLAD), University of Burgundy, Dijon, France.; Dye TJ; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Fazzi E; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; Unit of Child Neurology and Psychiatry, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili of Brescia, Brescia, Italy.; Felt R; Department of Neurology, Kaiser Permanente Bellevue Medical Center, Bellevue, Washington, USA.; Fernández-Jaén A; Department of Pediatric Neurology, Neurogenetics Section, Hospital Universitario Quirónsalud, Madrid, Spain.; Facultad de Medicina, Universidad Europea, Madrid, Spain.; Fernández-Prieto M; Grupo de Genómica y Bioinformática, Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS), Centro de Investigación Biomédica en Red de Enfermedades Raras del Instituto de Salud Carlos III (CIBERER-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Grupo de Genética, Fundación Pública Galega de Medicina Xenómica, Instituto de Investigación Biomédica de Santiago (IDIS), Santiago de Compostela, Spain.; Gantz E; Division of Pediatric Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Gasperowicz P; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Gil-Nagel A; Neurology Department, Epilepsy Program, Ruber Internacional Hospital, Madrid, Spain.; Gómez-Andrés D; Child Neurology Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute, Barcelona, Spain.; Greiner HM; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), member of the European Reference Network EpiCARE, Florence, Italy.; Haanpää MK; Department of Genomics, Turku University Hospital, Turku, Finland.; Helin M; Department of Pediatric Neurology, Turku University Hospital, Turku, Finland.; Hoyer J; Friedrich-Alexander-Universität Erlangen Nürnberg, Institute of Human Genetics, Erlangen, Germany.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Kallish S; Division of Translational Medicine and Human Genetics, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Karkare SN; Division of Pediatric Neurology, Department of Pediatrics, Cohen Children's Medical Center, New Hyde Park, New York, USA.; Khan A; Department of Zoology, Faculty of Biological Sciences, University of Lakki Marwat, Lakki Marwat, Pakistan.; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Kleinendorst L; Department of Human Genetics, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands.; Koch J; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Kothare SV; Division of Pediatric Neurology, Department of Pediatrics, Cohen Children's Medical Center, New Hyde Park, New York, USA.; Koudijs SM; Department of Neurology, Erasmus Medical Center (MC) Sophia Children's Hospital, Rotterdam, the Netherlands.; Erfelijke Neuro-Cognitieve Ontwikkelingsstoornissen, Rotterdam, Erasmus Medical Center (ENCORE)-GRIN Expertise Center, Rotterdam, the Netherlands.; Lagae L; Department of Development and Regeneration, Section Paediatric Neurology, member of the European Reference Network EpiCARE, University Hospitals Leuven, Leuven, Belgium.; Lakeman P; Department of Human Genetics, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands.; Leppig KA; Genetic Services, Kaiser Permanente of Washington, Seattle, Washington, USA.; Lesca G; Service de Genetique, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Centre National de la recherche scientifique (CNRS) Unité mixte de recherche (UMR) 5261- L'Institut national de la santé et de la recherche médicale (INSERM) U1315, Université de Lyon-Université Claude Bernard Lyon 1, Lyon, France.; Lopergolo D; Department of Medicine, Surgery, and Neurosciences, University of Siena, Siena, Italy.; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Stella Maris Foundation, Pisa, Italy.; Lusk L; Division of Neurology, Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Mackenzie A; Research Institute, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Mei D; Neuroscience Department, Meyer Children's Hospital IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), member of the European Reference Network EpiCARE, Florence, Italy.; Møller RS; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center Filadelfia, member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, New York, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Quelin C; Department of Medical Genetics, CHU de Rennes, Rennes, France.; Revah-Politi A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, USA.; Rheims S; Department of Functional Neurology and Epileptology, member of the European Reference Network EpiCARE, Hospices Civils de Lyon and Lyon 1 University, Lyon, France.; Rodríguez-Palmero A; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.; Grupo de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Rossi A; Unit of Child Neurology and Psychiatry, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili of Brescia, Brescia, Italy.; Santorelli F; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Stella Maris Foundation, Pisa, Italy.; Seinfeld S; Department of Pediatric Neurology, Neuroscience Center, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Sell E; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Stephenson D; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Szczaluba K; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Center of Excellence for Rare and Undiagnosed Diseases, Medical University of Warsaw, Warsaw, Poland.; Trinka E; Department of Neurology, Neurointensive Care and Neurorehabilitation, Christian Doppler University Hospital, member of the European Reference Network EpiCARE, Paracelsus Medical University, Center for Cognitive Neuroscience, Salzburg, Austria.; Neuroscience Institute, Christian Doppler University Hospital, member of the European Reference Network EpiCARE, Paracelsus Medical University, Center for Cognitive Neuroscience, Salzburg, Austria.; Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; van Haelst MM; Department of Human Genetics, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands.; Veenma DCM; Erfelijke Neuro-Cognitieve Ontwikkelingsstoornissen, Rotterdam, Erasmus Medical Center (ENCORE)-GRIN Expertise Center, Rotterdam, the Netherlands.; Department of Pediatrics, Erasmus Medical Center (MC)-Sophia Hospital, Rotterdam, the Netherlands.; Weber S; Service de Génétique, Centre Hospitalier Universitaire (CHU) de Caen-Normandie, Caen, France.; Service de Neurologie, Centre Hospitalier Universitaire (CHU) de Caen-Normandie, Caen, France.; Weckhuysen S; Applied and Translational Neurogenomics Group, Vlaams Instituut voor Biotechnologie (VIB) Center for Molecular Neurology, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Zacher P; Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany.; Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Rubboli G; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center Filadelfia, member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

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

Rahikkala E; Institute of Biomedicine, University of Turku, Turku, Finland.; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland.; Väisänen T; Department of Clinical Genetics, Turku University Hospital, Turku, Finland.; Department of Genomics, Turku University Hospital, Turku, Finland.; Ojala L; Department of Ophthalmology, Turku University Hospital, Turku, Finland.; Pohjola P; Department of Genomics, Turku University Hospital, Turku, Finland.; Toivonen M; Department of Genomics, Turku University Hospital, Turku, Finland.; Parkkola R; Department of Radiology, Turku University Hospital, Turku, Finland.; Haanpää MK; Institute of Biomedicine, University of Turku, Turku, Finland.; Department of Clinical Genetics, Turku University Hospital, Turku, Finland.; Department of Genomics, Turku University Hospital, Turku, Finland.

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE

Keskinen S; Tyks Laboratories, Genomics, Clinical Genetics, Turku University Hospital, Turku, Finland.; Paakkola T; Tyks Laboratories, Genomics, Clinical Genetics, Turku University Hospital, Turku, Finland.; Northern Finland Laboratory Centre NordLab and Oulu University Hospital, Oulu, Finland.; Mattila M; Department of Obstetrics and Gynecology, Turku University Hospital, Turku, Finland.; Hietala M; Department of Clinical Genetics, Turku University Hospital, Turku, Finland.; Koillinen H; Department of Clinical Genetics, Turku University Hospital, Turku, Finland.; Institute of Biomedicine, University of Turku, Turku, Finland.; Laine J; Department of Pathology, Turku University Hospital, Turku, Finland.; Haanpää MK; Tyks Laboratories, Genomics, Clinical Genetics, Turku University Hospital, Turku, Finland.; Department of Clinical Genetics, Turku University Hospital, Turku, Finland.

Publisher: SAGE Publishing Country of Publication: United States NLM ID: 9809673 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1615-5742 (Electronic) Linking ISSN: 10935266 NLM ISO Abbreviation: Pediatr Dev Pathol Subsets: MEDLINE

Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway. gunnar.houge@helse-bergen.no.; Bratland E; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Aukrust I; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Žukauskaitė G; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.; Sansovic I; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology, Childrens' Hospital Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.; Brea-Fernández AJ; Grupo de Medicina Xenómica, Universidade de Santiago de Compostela, CIBERER), Santiago de Compostela, Spain.; Mayer K; Center for Human Genetics and Laboratory Diagnostics, MVZ Martinsried GmbH, Martinsried, Germany.; Paakkola T; Nordlab Wellbeing Service Group, Genetics Laboratory, Oulu, Finland.; McKenna C; Northern Ireland Regional Molecular Diagnostic Service, Belfast, Northern Ireland.; Wright W; Northern Ireland Regional Molecular Diagnostic Service, Belfast, Northern Ireland.; Markovic MK; Center for Applied and Forensic Molecular Genetics, Faculty of Biology, University of Belgrade, Belgrade, Serbia.; Lildballe DL; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Konecny M; Laboratory of Genomic Medicine, GHC GENETICS SK, Bratislava, Slovakia.; Department of Biology, Institute of Biology and Biotechnology, Faculty of Natural Sciences, University of ss. Cyril and Methodius in Trnava, Trnava, Slovakia.; Smol T; Institut de Genetique Medicale-CHU Lille, Lille, France.; Alhopuro P; HUS Diagnostic Center, Laboratory of Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Gouttenoire EA; MEDISYN Genetics, Chemin d'Entre-Bois 21, Lausanne, Switzerland.; Obeid K; Molecular Diagnostics, Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.; Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica' and Genome Center Bulgaria, Sofia, Bulgaria.; Jankovic M; Neurology Clinic UCCS, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Lubieniecka JM; Humangenetik, Ruhr-Universität Bochum, Bochum, Germany.; Stojiljkovic M; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.; Buisine MP; Molecular Oncogenetics, Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France.; Univ. Lille, CNRS, Inserm, CHU Lille, UMR9020-U1277, CANTHER, Lille, France.; Haukanes BI; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Lorans M; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Roomere H; Department of laboratory genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Petit FM; Department of Oncopharmacology, Centre Antoine Lacassagne, Nice, France.; Haanpää MK; Department of Genomics, Turku University Hospital, Turku, Finland.; Beneteau C; CHU Bordeaux, Service de Génétique Médicale, F-33000, Bordeaux, France.; Pérez B; Genetics Department of CEDEM, Universidad Autónoma de Madrid, Madrid, Spain.; Plaseska-Karanfilska D; Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Macedonian Academy of Sciences and Arts, Skopje, North Macedonia.; Rath M; Institute for Molecular Medicine, MSH Medical School Hamburg, Hamburg, Germany.; Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.; Fuhrmann N; Institute of Human Genetics, University of Cologne, Cologne, Germany.; Ferreira BI; GENELAB by ABC, Faro, Portugal.; Faculty of Medicine and Biomedical Sciences, University of Algarve, Campus de Gambelas, Faro, Portugal.; Stephanou C; Molecular Genetics Thalassemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Sjursen W; Department of Medical Genetics, St Olavs Hospital, Trondheim, Norway.; Maver A; Clinical Institute of Genomic Medicine, Ljubljana, Slovenia.; Rouzier C; Department of Medical Genetics, National Centre for Mitocondrial Diseases, CHU de NICE, Université Côte d'Azur, Nice, France.; CNRS, INSERM, IRCAN, Université Côte d'Azur, Nice, France.; Chirita-Emandi A; Department of Microscopic Morphology Genetics Discipline, Center of Genomic Medicine, 'Victor Babes' University of Medicine and Pharmacy Timisoara, Timisoara, Romania.; Gonçalves J; Human Genetics Department, National Institute of Health Dr Ricardo Jorge, Lisbon, Portugal.; Kuek WCD; Molecular Diagnosis Centre, Department of Laboratory Medicine, National University Hospital, Kent Ridge, Singapore.; Broly M; Laboratory of Rare and Autoinflammatory Genetic Diseases, Department of Genetics-LBM, Montpellier University Hospital, Montpellier, France.; Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Thong MK; Genetics and Metabolism Unit, Department of Pediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Tae SK; Genetics and Metabolism Unit, Department of Pediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Hyblova M; Department of Genetics, Medirex, Bratislava, Slovakia.; den Dunnen JT; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Laner A; Medizinisch Genetisches Zentrum (MGZ) München, Munich, Germany.

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

Vieira P; Clinic for Children and Adolescents, Oulu University Hospital, Oulu, Finland.; PEDEGO Research Unit and Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland.; Nagy II; Department of Clinical Chemistry, Cancer and Translational Medicine Research Unit, Medical Research Center, University of Oulu and Northern Finland Laboratory Centre NordLab, Oulu University Hospital, Oulu, Finland.; Rahikkala E; PEDEGO Research Unit and Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland.; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland.; Institute of Biomedicine, University of Turku, Turku, Finland.; Väisänen ML; Department of Clinical Chemistry, Cancer and Translational Medicine Research Unit, Medical Research Center, University of Oulu and Northern Finland Laboratory Centre NordLab, Oulu University Hospital, Oulu, Finland.; Latva K; Department of Pediatrics, Päijät-Häme Central Hospital, Lahti, Finland.; Kaunisto K; Clinic for Children and Adolescents, Oulu University Hospital, Oulu, Finland.; PEDEGO Research Unit and Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland.; Valmari P; Department of Pediatrics, Lapland Central Hospital, Rovaniemi, Finland.; Keski-Filppula R; PEDEGO Research Unit and Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland.; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland.; Haanpää MK; Institute of Biomedicine, University of Turku, Turku, Finland.; Department of Clinical Genetics, Turku University Hospital and University of Turku, Turku, Finland.; Sidoroff V; Department of Pediatrics, North Karelia Central Hospital, Joensuu, Finland.; Miettinen PJ; New Children's Hospital, Helsinki University Hospital, Pediatric Research Center, Helsinki, Finland.; Arkkola T; Clinic for Children and Adolescents, Oulu University Hospital, Oulu, Finland.; Ojaniemi M; Clinic for Children and Adolescents, Oulu University Hospital, Oulu, Finland.; PEDEGO Research Unit and Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland.; Nuutinen M; Clinic for Children and Adolescents, Oulu University Hospital, Oulu, Finland.; PEDEGO Research Unit and Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland.; Uusimaa J; Clinic for Children and Adolescents, Oulu University Hospital, Oulu, Finland.; PEDEGO Research Unit and Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland.; Myllynen P; Department of Clinical Chemistry, Cancer and Translational Medicine Research Unit, Medical Research Center, University of Oulu and Northern Finland Laboratory Centre NordLab, Oulu University Hospital, Oulu, Finland.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Sanchez-Lara PA; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.; Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Haanpää MK; Department of Genomics and Clinical Genetics, Turku University Hospital, Turku, Finland.; Department of Medicine, Stanford University, School of Medicine, Stanford, California, USA.; Curry CJ; Genetic Medicine, Department of Pediatrics, University of California San Francisco, Fresno, California, USA.; Wang R; Division of Metabolic Disorders, CHOC, Children's Hospital Orange County, Orange, California, USA.; Department of Pediatrics, University of California-Irvine School of Medicine, Orange, California, USA.; Ezgü F; Faculty of Medicine, Department and Laboratory of Pediatric Metabolic Disorders, Gazi University, Ankara, Turkey.; Rose CM; Victorian Clinical Genetic Service, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; D'Cunha Burkardt D; Medical Genomics and Metabolic Genetics Branch, National Human genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Conway RL; Department of Pediatric Neurosciences, Spectrum Health/Helen DeVos Children's Hospital Medical Genetics, Grand Rapids, Michigan, USA.; Relan A; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.; Carey JC; Department of Pediatrics, Division of Medical genetics, The University of Utah, Salt Lake City, Utah, USA.

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

Mäkitie RE; Folkhälsan Institute of Genetics Helsinki Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine University of Helsinki Helsinki Finland.; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction Imperial College London London UK.; Henning P; Department of Internal Medicine and Clinical Nutrition Centre for Bone and Arthritis Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg Gothenburg Sweden.; Jiu Y; HiLIFE Institute of Biotechnology University of Helsinki Helsinki Finland.; The Center for Microbes, Development and Health, Key Laboratory of Molecular Virology and Immunology, Institut Pasteur of Shanghai Chinese Academy of Sciences Shanghai China.; University of Chinese Academy of Sciences Beijing China.; Kämpe A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm Sweden.; Kogan K; HiLIFE Institute of Biotechnology University of Helsinki Helsinki Finland.; Costantini A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm Sweden.; Välimäki VV; Department of Orthopaedics and Traumatology Helsinki University Central Hospital and Helsinki University, Jorvi Hospital Espoo Finland.; Medina-Gomez C; Department of Internal Medicine Erasmus MC, University Medical Center Rotterdam Rotterdam The Netherlands.; Pekkinen M; Folkhälsan Institute of Genetics Helsinki Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine University of Helsinki Helsinki Finland.; Salusky IB; Department of Pediatrics David Geffen School of Medicine at UCLA Los Angeles California USA.; Schalin-Jäntti C; Endocrinology, Abdominal Center University of Helsinki and Helsinki University Hospital Helsinki Finland.; Haanpää MK; Department of Genomics and Clinical Genetics Turku University Hospital Turku Finland.; Rivadeneira F; Department of Internal Medicine Erasmus MC, University Medical Center Rotterdam Rotterdam The Netherlands.; Bassett JHD; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction Imperial College London London UK.; Williams GR; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction Imperial College London London UK.; Lerner UH; Department of Internal Medicine and Clinical Nutrition Centre for Bone and Arthritis Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg Gothenburg Sweden.; Pereira RC; Department of Pediatrics David Geffen School of Medicine at UCLA Los Angeles California USA.; Lappalainen P; HiLIFE Institute of Biotechnology University of Helsinki Helsinki Finland.; Mäkitie O; Folkhälsan Institute of Genetics Helsinki Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine University of Helsinki Helsinki Finland.; Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm Sweden.; Children's Hospital University and Helsinki University Hospital Helsinki Finland.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101707013 Publication Model: eCollection Cited Medium: Internet ISSN: 2473-4039 (Electronic) Linking ISSN: 24734039 NLM ISO Abbreviation: JBMR Plus Subsets: PubMed not MEDLINE

Bassani S; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Chrast J; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Ambrosini G; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland.; Voisin N; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Schütz F; Biostatistics platform, University of Lausanne, Lausanne, Switzerland.; Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, 10126 Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy.; Sirchia F; Department of Neurosciences Rita Levi-Montalcini, University of Turin, 10126 Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy.; Turban L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Schubert S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Schlump JU; Department of Pediatrics, Centre for Neuromedicine, Gemeinschaftskrankenhaus Herdecke Gerhard-Kienle-Weg, Herdecke, Germany.; DeMille D; Genomics Analysis 396, ARUP Laboratories, Salt Lake City, Utah, USA.; Bayrak-Toydemir P; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Nelson GR; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Wong KN; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Duncan L; Department of Pediatrics, Medical Center North, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Mosera M; Department of Pediatrics, Medical Center North, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Gilissen C; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Pfundt R; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Kersseboom R; Center for genetic developmental disorders southwest, Zuidwester, Middelharnis, The Netherlands.; Yttervik H; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.; Hansen GÅM; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.; Falkenberg Smeland M; Department of Pediatric Rehabilitation, University Hospital of North Norway, Tromsø, Norway.; Butler KM; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Carvalho CMB; Pacific Northwest Research Institute (PNRI), Broadway, Seattle, Washington, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Zhang C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Flores-Gallegos L; Hospital Ángeles Puebla, Puebla, Mexico.; Morales-Toquero R; Hospital Ángeles Puebla, Puebla, Mexico.; Petit F; CHU Lille, Clinique de génétique, F-59000 Lille, France.; Yalcin B; Inserm UMR1231, University of Burgundy, 21000 Dijon, France.; Tuttle A; GeneDx, Gaithersburg, Maryland, USA.; Elloumi HZ; GeneDx, Gaithersburg, Maryland, USA.; Mccormick L; Department of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, Texas, USA.; Kukolich M; Department of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, Texas, USA.; Klaas O; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany.; Horvath J; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Operto F; Child and Adolescent Neuropsychiatry Unit, Department of Medicine, Surgery and Dentistry, University of Salerno, Salerno, Italy.; Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Writzl K; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Haanpää MK; Department of Genomics, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland.; Pohjola P; Department of Genomics, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland.; Arikka H; Department of Pediatric Neurology, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland.; Iseli C; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland.; Guex N; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland.; Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.

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

Tuiskula A; Department of Pediatrics, Children's Hospital, University of Helsinki and Helsinki University Hospital (HUH), Helsinki, Finland. Electronic address: anna.tuiskula@hus.fi.; Rahikkala E; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Department of Clinical Genetics and Medical Research Center, Oulu University Hospital, Oulu, Finland.; Kero A; Department of Clinical Genetics, Turku University Hospital, Turku, Finland.; Haanpää MK; Department of Clinical Genetics, Turku University Hospital, Turku, Finland; Genomics Department, Turku University Hospital, Turku, Finland.; Avela K; Department of Clinical Genetics, Helsinki University Hospital (HUH), Helsinki, Finland.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Kampmeier A; Institut für Humangenetik, Universitätsmedizin Essen, Universität Duisburg-Essen, Essen, Germany.; Leitão E; Institut für Humangenetik, Universitätsmedizin Essen, Universität Duisburg-Essen, Essen, Germany.; Parenti I; Institut für Humangenetik, Universitätsmedizin Essen, Universität Duisburg-Essen, Essen, Germany.; Beygo J; Institut für Humangenetik, Universitätsmedizin Essen, Universität Duisburg-Essen, Essen, Germany.; Depienne C; Institut für Humangenetik, Universitätsmedizin Essen, Universität Duisburg-Essen, Essen, Germany.; Bramswig NC; Institut für Humangenetik, Universitätsmedizin Essen, Universität Duisburg-Essen, Essen, Germany.; Hsieh TC; Institut für Genomische Statistik und Bioinformatik, Universitätsklinikum Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Afenjar A; Département de génétique et embryologie médicale, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Hôpital Trousseau, APHP Sorbonne Université, Paris, France.; Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.; Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.; Lausberg E; Institut für Humangenetik und Genommedizin, Uniklinik RWTH Aachen, Aachen, Germany.; Elbracht M; Institut für Humangenetik und Genommedizin, Uniklinik RWTH Aachen, Aachen, Germany.; Haanpää MK; Clinical Genetics Unit, Turku University Hospital, Turku, Finland.; Department of Genomics, Turku University Hospital, Turku, Finland.; Koillinen H; Clinical Genetics Unit, Turku University Hospital, Turku, Finland.; Institute of Biomedicine, University of Turku, Turku, Finland.; Heinrich U; Zentrum für Humangenetik und Laboratoriumsdiagnostik Dr. Klein Dr. Rost und Kollegen, Martinsried, Germany.; Rost I; Zentrum für Humangenetik und Laboratoriumsdiagnostik Dr. Klein Dr. Rost und Kollegen, Martinsried, Germany.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Popp D; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Koch-Hogrebe M; Vestische Kinder- und Jugendklinik Datteln, Abteilung für Neuropädiatrie, Datteln, Germany.; Rostasy K; Vestische Kinder- und Jugendklinik Datteln, Abteilung für Neuropädiatrie, Datteln, Germany.; López-González V; Sección Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.; Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER, Murcia, Spain.; Sanchez-Soler MJ; Sección Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.; Macedo C; Serviço de Genética, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar e Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisboa, Portugal.; Schmetz A; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Steinborn C; MVZ Mitteldeutscher Praxisverbund Humangenetik, Dresden, Germany.; Weidensee S; MVZ Mitteldeutscher Praxisverbund Humangenetik, Erfurt, Germany.; Lesmann H; Institut für Humangenetik, Universitätsklinikum Bonn, Universität Bonn, Bonn, Germany.; Marbach F; Institut für Humangenetik, Universitätsklinikum Heidelberg, Universität Heidelberg, Heidelberg, Germany.; Caro P; Institut für Humangenetik, Universitätsklinikum Heidelberg, Universität Heidelberg, Heidelberg, Germany.; Schaaf CP; Institut für Humangenetik, Universitätsklinikum Heidelberg, Universität Heidelberg, Heidelberg, Germany.; Krawitz P; Institut für Genomische Statistik und Bioinformatik, Universitätsklinikum Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Wieczorek D; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Center for Rare Diseases, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Kaiser FJ; Institut für Humangenetik, Universitätsmedizin Essen, Universität Duisburg-Essen, Essen, Germany.; Essener Zentrum für Seltene Erkrankungen (EZSE), Universitätsmedizin Essen, Essen, Germany.; Kuechler A; Institut für Humangenetik, Universitätsmedizin Essen, Universität Duisburg-Essen, Essen, Germany.; Essener Zentrum für Seltene Erkrankungen (EZSE), Universitätsmedizin Essen, Essen, Germany.

Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101630250 Publication Model: eCollection Cited Medium: Print ISSN: 2296-634X (Print) Linking ISSN: 2296634X NLM ISO Abbreviation: Front Cell Dev Biol Subsets: PubMed not MEDLINE

Helenius K; Department of Paediatrics and Adolescent Medicine, Finland; University of Turku, Turku, Finland. Electronic address: kkhele@utu.fi.; Parkkola R; Department of Radiology, Finland.; Arola A; Department of Paediatrics and Adolescent Medicine, Finland.; Peltola V; Department of Paediatrics and Adolescent Medicine, Finland; University of Turku, Turku, Finland.; Haanpää MK; Department of Genomics and Medical Genetics, Turku University Hospital, Finland; University of Turku, Turku, Finland.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Haanpää MK; Department of Medicine, Division of Oncology, School of Medicine, Stanford University, Palo Alto, California.; Ng BG; Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California.; Gallant NM; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, School of Medicine, Irvine, California.; Division of Genetics, Miller Children's and Women's Hospital, Long Beach, California.; Singh KE; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, School of Medicine, Irvine, California.; Division of Genetics, Miller Children's and Women's Hospital, Long Beach, California.; Brown C; Child Neurology, Stanford Children's Health, Palo Alto, California.; Kimonis V; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, School of Medicine, Irvine, California.; Division of Genetics, Miller Children's and Women's Hospital, Long Beach, California.; Freeze HH; Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California.; Muller EA 2nd; Clinical Genetics, Stanford Children's Health, Palo Alto, California.

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

Kraatari-Tiri M; Department of Clinical Genetics, Oulu University Hospital, 90029 Oulu, Finland.; PEDEGO Research Unit, Medical Research Center Oulu, Oulu University Hospital, and University of Oulu, 90014 Oulu, Finland.; Haanpää MK; Department of Clinical Genetics, Turku University Hospital, 20521 Turku, Finland.; Department of Genomics, Turku University Hospital, 20521 Turku, Finland.; Willberg T; Department of Otorhinolaryngology, Turku University Hospital, 20521 Turku, Finland.; Pohjola P; Department of Genomics, Turku University Hospital, 20521 Turku, Finland.; Keski-Filppula R; Department of Clinical Genetics, Oulu University Hospital, 90029 Oulu, Finland.; PEDEGO Research Unit, Medical Research Center Oulu, Oulu University Hospital, and University of Oulu, 90014 Oulu, Finland.; Kuismin O; Department of Clinical Genetics, Oulu University Hospital, 90029 Oulu, Finland.; PEDEGO Research Unit, Medical Research Center Oulu, Oulu University Hospital, and University of Oulu, 90014 Oulu, Finland.; Moilanen JS; Department of Clinical Genetics, Oulu University Hospital, 90029 Oulu, Finland.; PEDEGO Research Unit, Medical Research Center Oulu, Oulu University Hospital, and University of Oulu, 90014 Oulu, Finland.; Häkli S; PEDEGO Research Unit, Medical Research Center Oulu, Oulu University Hospital, and University of Oulu, 90014 Oulu, Finland.; Department of Otorhinolaryngology, Oulu University Hospital, 90029 Oulu, Finland.; Rahikkala E; Department of Clinical Genetics, Oulu University Hospital, 90029 Oulu, Finland.; PEDEGO Research Unit, Medical Research Center Oulu, Oulu University Hospital, and University of Oulu, 90014 Oulu, Finland.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383 (Print) Linking ISSN: 20770383 NLM ISO Abbreviation: J Clin Med Subsets: PubMed not MEDLINE

Micale L; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Morlino S; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Carbone A; Unit of Chronobiology, Division of Internal Medicine, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Carissimo A; Institute for Applied Mathematics 'Mauro Picone' National Research Council, Naples, Italy.; Nardella G; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Fusco C; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Palumbo O; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Schirizzi A; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Russo F; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Mazzoccoli G; Unit of Chronobiology, Division of Internal Medicine, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Breckpot J; Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.; De Luca C; Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.; Ferraris A; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.; Giunta C; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.; Grammatico P; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.; Haanpää MK; Department of Clinical Genetics and Genomics, Turku University Hospital and University of Turku, Turku, Finland.; Mancano G; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.; Forzano G; Medical Genetics Unit, University of Florence, Florence, Italy.; Cacchiarelli D; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Van Esch H; Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.; Callewaert B; Center for Medical Genetics and Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.; Rohrbach M; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.; Castori M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. Electronic address: m.castori@operapadrepio.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

Pietilä-Effati P; Department of Cardiology, Vaasa Central Hospital, Vaasa, Finland.; Saarinen JT; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.; Löyttyniemi E; Department of Biostatistics, University of Turku, Turku, Finland.; Autio R; Department of Radiology, Vaasa Central Hospital, Vaasa, Finland.; Saarenhovi M; Department of Clinical Physiology and Nuclear Medicine, Turku University Hospital, University of Turku, Turku, Finland.; Haanpää MK; Department of Clinical Genetics, Turku University Hospital, Turku, Finland.; Kantola I; Division of Medicine, Turku University Hospital, University of Turku, Turku, Finland.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE