부산대학교 도서관

D'Gama, Alissa M ; Mulhern, Sarah ; Sheidley, Beth R ; Boodhoo, Fadil ; Buts, Sarah ; Chandler, Natalie J ; Cobb, Joanna ; Curtis, Meredith ; Higginbotham, Edward J ; Holland, Jonathon ; Khan, Tayyaba ; Koh, Julia ; Liang, Nicole S Y ; McRae, Lyndsey ; Nesbitt, Sarah E ; Oby, Brandon T ; Paternoster, Ben ; Patton, Alistair ; Rose, Graham ; Scotchman, Elizabeth ; Valentine, Rozalia ; Wiltrout, Kimberly N ; Hayeems, Robin Z ; Jain, Puneet ; Lunke, Sebastian ; Marshall, Christian R ; Rockowitz, Shira ; Sebire, Neil J ; Stark, Zornitza ; White, Susan M ; Chitty, Lyn S ; Cross, J Helen ; Scheffer, Ingrid E ; Chau, Vann ; Costain, Gregory ; Poduri, Annapurna ; Howell, Katherine B ; McTague, Amy

In The Lancet Neurology September 2023 22(9):812-825

Verbinnen, Iris; Douzgou Houge, Sofia; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Geneviève, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M; Foss, Kimberly; Dobyns, William; White, Susan M; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A; Van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J; Ruiz, Anna; Trujillo Quintero, Juan Pablo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K; Weisenberg, Judith L; Haack, Tobias B; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Bindels de Heus, Karen G C B; de Wit, Marie-Claire Y; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Géraldine; Spillmann, Rebecca C; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M; Krawitz, Peter; Douzgos Houge, Gunnar; Janssens, Veerle

Am J Hum Genet

Deuis, Jennifer R; Kumble, Smitha; Keramidas, Angelo; Ragnarsson, Lotten; Simons, Cas; Pais, Lynn; White, Susan M; Vetter, Irina

Human Molecular Genetics; 1/15/2024, Vol. 33 Issue 2, p103-109, 7p

Fasham J; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK; Department of Clinical Genetics, Royal Devon University Hospital, EX1 2ED Exeter, UK.; Rankin J; Department of Clinical Genetics, Royal Devon University Hospital, EX1 2ED Exeter, UK.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia.; Bell KM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Wakeling MN; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK.; Mallin LJ; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, EX2 5DW Exeter, UK.; Shah A; University Hospitals Plymouth NHS Trust, Derriford Road, Crownhill, Plymouth, PL6 8DH Devon, UK.; de Silva MG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Francis DI; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Walsh M; Genomic Medicine, the Royal Melbourne Hospital, Parkville, VIC, Australia.; Jones EE; Bristol Genetics Laboratory, North Bristol NHS Trust, BS10 5NB Bristol, UK.; Vijayakumar K; Department of Paediatric Neurology, University Hospitals Bristol NHS Foundation Trust, BS1 3NU Bristol, UK.; Johnson K; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, NG5 1PB Nottingham, UK.; Sansbury FH; All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Wales Genomic Health Centre, Cardiff Edge Business Park, Longwood Drive, Whitchurch, CF14 7YU Cardiff, UK; Division of Cancer & Genetics, School of Medicine, Cardiff University, CF14 4XN Cardiff, UK.; Te Water Naudé J; Department of Paediatric Neurology, University Hospital of Wales, CF14 4XW Cardiff, UK.; Giunti P; Queen Square Institute of Neurology, WC1N 3BG London, UK.; Hadjivassiliou M; Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust and University of Sheffield, S10 2JF Sheffield, UK.; Nemeth AH; Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, OX3 7LD Oxford, UK.; Tofaris GK; Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK; Department of Clinical Neurology, Oxford University Hospitals NHS Foundation Trust, OX3 9DU Oxford, UK.; Rinaldi C; Department of Clinical Neurology, Oxford University Hospitals NHS Foundation Trust, OX3 9DU Oxford, UK; Institute of Developmental and Regenerative Medicine, University of Oxford, OX3 7TY Oxford, UK.; Banos-Pinero B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, OX3 9DU Oxford, UK.; Selikhva M; Neurology Department, Southmead Hospital, BS10 5NB Bristol, UK.; Ubeyratna N; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK.; Kievit A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Sleutels F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; van Giessen J; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Hall TS; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK.; Whone A; Southmead Hospital, BS10 5NB Bristol, UK.; Thomas E; Department of Child Health, Royal Devon University Hospital, EX1 2ED Exeter, UK.; Leslie JS; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK.; Bamford RA; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK.; Jeffries AR; Biosciences, University of Exeter, EX1 2LU Exeter, UK.; Lord J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, S10 2HQ Sheffield, UK.; Walker S; Genomics England, EC1M 6BQ London, UK.; van Ham TJ; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Hill SL; NHS England, London, UK.; McGavin L; University Hospitals Plymouth NHS Trust, Derriford Road, Crownhill, Plymouth, PL6 8DH Devon, UK; University of Plymouth, PL4 8AA Plymouth, UK.; Parrish A; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, EX2 5DW Exeter, UK.; Crosby AH; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK.; Baple EL; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK; Department of Clinical Genetics, Royal Devon University Hospital, EX1 2ED Exeter, UK. Electronic address: e.baple@exeter.ac.uk.; Pagnamenta AT; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK. Electronic address: a.pagnamenta@exeter.ac.uk.

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

Shepherdson, James L; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A; Amor, David J; Banka, Siddharth; Basel, Donald G; Buch, Laura D; Carere, Deanna Alexis; Carroll, Renée; Clayton-Smith, Jill; Crawford, Ali; Dunø, Morten; Faivre, Laurence; Gilfillan, Christopher P; Gold, Nina B; Gripp, Karen W; Hobson, Emma; Holtz, Alexander M; Innes, A Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Amel Riazat Kesh, Leila; Genomics England Research Consortium; Küry, Sébastien; Lecoquierre, François; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Németh, Andrea H; Østergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E; Schnur, Rhonda E; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P; Wadman, Erin; Wakeling, Emma; White, Susan M; Wong, Lawrence C; Lupski, James R; Lichtarge, Olivier; Corbett, Mark A; Gecz, Jozef; Nicolet, Charles M; Farnham, Peggy J; Kim, Cheol-Hee; Shinawi, Marwan

Genomics England Research Consortium 2024, 'Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt', American Journal of Human Genetics, vol. 111, no. 3, pp. 487-508. https://doi.org/10.1016/j.ajhg.2024.01.007

Tanaka Y; Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.; Yamada M; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.; Miya F; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.; Otani T; Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan.; Kasuga Y; Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan.; Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan; Research Center for Preventive Medicine, University of Tsukuba Hospital, Ibaraki, Japan.; Inagaki N; Saint Women's Clinic, Saitama, Japan.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Tanaka M; Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan.; Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Electronic address: kkosaki@keio.jp.

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

Howell KB; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia.; White SM; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Service, Melbourne, VIC, Australia.; McTague A; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Institute of Child Health, London, UK.; D'Gama AM; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Cohorts, Boston Children's Hospital, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON, Canada.; Poduri A; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Cohorts, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Scheffer IE; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Department of Medicine, Epilepsy Research Centre, Austin Hospital, University of Melbourne, Melbourne, VIC, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia.; Chau V; Department of Paediatrics, University of Toronto, Toronto, ON, Canada.; Department of Pediatrics (Neurology), The Hospital for Sick Children, Toronto, ON, Canada.; Smith LD; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Stephenson SEM; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Wojcik M; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Cohorts, Boston Children's Hospital, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Davidson A; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Sebire N; Population, Policy and Practice Department, UCL GOS Institute of Child Health, London, UK.; Sliz P; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Cohorts, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA, USA.; Beggs AH; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Cohorts, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Chitty LS; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK.; Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Cohn RD; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON, Canada.; Marshall CR; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.; Andrews NC; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; North KN; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Cross JH; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Institute of Child Health, London, UK.; National Institute of Health Research (NIHR) Biomedical Research Centre at Great Ormond Street Institute of Child Health, London, UK.; Christodoulou J; Murdoch Children's Research Institute, Melbourne, VIC, Australia. john.christodoulou@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia. john.christodoulou@mcri.edu.au.; Victorian Clinical Genetics Service, Melbourne, VIC, Australia. john.christodoulou@mcri.edu.au.; Scherer SW; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada. Stephen.Scherer@sickkids.ca.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. Stephen.Scherer@sickkids.ca.

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

De Falco A; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Vincent M; Service de génétique, CHU Nantes, Nantes, France.; Nantes Université, CNRS, INSERM, L'institut du Thorax, Nantes, France.; Vieville G; Service de Génétique, Génomique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.; Gauthier M; Service de Génétique, Génomique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.; Dieterich K; Service de Génétique, Génomique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.; Univ. Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, Grenoble, France.; Coutton C; Service de Génétique, Génomique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.; Univ. Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, Grenoble, France.; Loddo S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; UniCamillus - Saint Camillus International University of Health Sciences, Rome, Italy.; Dallapiccola B; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Digilio MC; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Briuglia S; Department of Biomedical, Dental, Morphological and Functional Imaging Sciences, University of Messina, Messina, Italy.; Bernardini L; Cytogenetics Unit, Casa Sollievo Della Sofferenza Foundation, IRCCS, San Giovanni Rotondo, Foggia, Italy.; Fontana P; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy.; Madej-Pilarczyk A; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Młynek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; De Falco L; AMES, Centro Polidiagnostico Strumentale SRL, Napoli, Italy.; Acquaviva F; Medical Genetics Unit, Department of General and Emergency Paediatrics, AORN Santobono-Pausilipon, Naples, Italy.; De Brasi D; Medical Genetics Unit, Department of General and Emergency Paediatrics, AORN Santobono-Pausilipon, Naples, Italy.; Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD et Institut GIMI, Dijon Bourgogne University Hospital, Dijon, France.; Dauver L; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD et Institut GIMI, Dijon Bourgogne University Hospital, Dijon, France.; Alnuaimi N; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD et Institut GIMI, Dijon Bourgogne University Hospital, Dijon, France.; Callier P; Laboratoire de Cytogénétique, CHU Dijon, Dijon, France.; Trevisan V; Genomic Medicine Section, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.; Center for Rare Diseases, Department of Human and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome, Italy.; Onesimo R; Center for Rare Diseases, Department of Human and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Leoni C; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Zampino G; Center for Rare Diseases, Department of Human and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome, Italy.; Neri G; Genomic Medicine Section, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.; Delplancq G; Constitutional Genetics Unit, Versailles Hospital, Le Chesnay, France.; Perrin L; Medical Genetics Unit, Robert Debré Hospital; APHP, Paris, France.; White SM; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Murdoch Children's Research Institute, Melbourne, Australia.; Guerrini R; Pediatric Neurology, Department of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.; Neurofarba Department, University of Florence, Florence, Italy.; Mei D; Pediatric Neurology, Department of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.; Sani I; Medical Genetics, Department of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.; Pantaleo M; Medical Genetics, Department of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.; Peron A; Medical Genetics, Department of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.; Department of Experimental and Clinical Biomedical Sciences Mario Serio, University of Florence, Florence, Italy.; Brunetti-Pierri N; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, 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

Zhao T; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; Allan K; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; Taylor J; Genetic Health Service NZ (Northern Hub), Auckland, New Zealand.; Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; White SM; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; Tan TY; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; Christodoulou J; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.; Tan NB; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; Stroud DA; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Biochemistry & Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, Victoria, Australia.

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

White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia. sue.white@vcgs.org.au.; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia. sue.white@vcgs.org.au.; Wondergem AP; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Breet I; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Dittmaier M; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Bell K; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Richmond CM; Genetic Health Queensland, Royal Brisbane & Women's Hospital, Brisbane, QLD, Australia.; School of Medicine, Griffith University, Gold Coast, QLD, Australia.; Hardikar W; Department of Gastroenterology and Clinical Nutrition, Royal Children's Hospital, Melbourne, VIC, Australia.; Bhatia K; Children's Cancer Centre, Royal Children's Hospital, Melbourne, VIC, Australia.; Quinlan C; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia.; Orchard D; Royal Children's Hospital, Melbourne, VIC, Australia.; D'Souza A; Department of Biochemistry, Vanderbilt University, Nashville, TN, 37232-7917, USA.; Chazin WJ; Department of Biochemistry, Vanderbilt University, Nashville, TN, 37232-7917, USA.; Smith C; Department of Medical Genetics, University of Calgary, Calgary, AB, Canada.; Sparkes R; Department of Medical Genetics, University of Calgary, Calgary, AB, Canada.; Lam S; Alberta Children's Hospital, Section of Pediatric Gastroenterology, Hepatology and Nutrition, University of Calgary, Calgary, AB, Canada.; Carter A; Department of Community Pediatrics, University of Calgary, Calgary Alberta, AB, Canada.; Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati Medical Center, Cincinnati, OH, USA.; Khendek L; Department of Pediatrics, University of Cincinnati Medical Center, Cincinnati, OH, USA.; Sullivan BR; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.; Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.; Becher N; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; Simonsen AKW; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; Kvistgaard H; Department of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.; Dempsey K; Division of Genetics, Department of Pediatrics, Atrium Health Levine Children's Hospital, Charlotte, NC, USA.; Miethke AG; Department of Pediatrics, University of Cincinnati Medical Center, Cincinnati, OH, USA.; Division of Pediatric Gastroenterology, Hepatology and Nutrition at Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; Centre for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.; Phillips E; Department of Medical Genetics, University of Calgary, Calgary, AB, Canada.; Luijsterburg MS; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. m.luijsterburg@lumc.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

Dominguez Gonzalez CA; Division of Neurology, Children's Hospital of Philadelphia, PA.; Bell KM; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.; Rajagopalan R; Division of Genomic Diagnostics, Department of Pathology and Lab Medicine, Children's Hospital of Philadelphia, PA.; Department of Pathology and Lab Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia.; de Silva MG; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.; Lemes A; Centro de Referencia Nacional de Defectos Congénitos y Enfermedades Raras (CRENADECER), Banco de Previsión Social, Montevideo, Uruguay.; Zabala C; Centro de Referencia Nacional de Defectos Congénitos y Enfermedades Raras (CRENADECER), Banco de Previsión Social, Montevideo, Uruguay.; Pérez-Vidarte F; Unidad Académica de Neuropediatría, Facultad de Medicina, Universidad de la República, Centro Hospitalario Pereira Rossell, Montevideo, Uruguay.; Cerisola A; Centro de Referencia Nacional de Defectos Congénitos y Enfermedades Raras (CRENADECER), Banco de Previsión Social, Montevideo, Uruguay.; Unidad Académica de Neuropediatría, Facultad de Medicina, Universidad de la República, Centro Hospitalario Pereira Rossell, Montevideo, Uruguay.; Vossough A; Department of Radiology, Children's Hospital of Philadelphia, PA.; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.; Whitehead MT; Department of Radiology, Children's Hospital of Philadelphia, PA.; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.; Cunningham C; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Australia.; Brown NJ; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Australia.; Quin R; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.; RCH Metabolic Department, Royal Children's Hospital, Melbourne, Victoria, Australia.; Simons C; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Darlinghurst, Sydney, NSW, Australia.; Conway T; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Uebergang E; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Rius R; Department of Paediatrics, University of Melbourne, Parkville, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Darlinghurst, Sydney, NSW, Australia.; Kumaheri MA; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; St Vincent Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Kotes ER; Division of Neurology, Children's Hospital of Philadelphia, PA.; Vohra A; Division of Neurology, Children's Hospital of Philadelphia, PA.; Zalusky MPG; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA.; Anderson ZB; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA.; Storz SHR; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA.; Ward SA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA.; Goffena J; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA.; Gustafson JA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA.; Molecular and Cellular Biology Program, University of Washington, Seattle, WA.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Australia.; Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, PA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.; Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA; and.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA.

Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Kortüm, Fanny; Kutsche, Kerstin; Korenke, Georg Christoph; Leuzzi, Vincenzo; Mowat, David; Nair, Lal D V; Nguyen, Thi Tuyet Mai; Thierry, Patrick; White, Susan M; Campeau, Philippe M; Tartaglia, Marco; Caputo, Viviana; Pizzuti, Antonio; Bauer, Christiane K; Stella, Lorenzo; Bocchinfuso, Gianfranco; Ciolfi, Andrea; Flex, Elisabetta; Alawi, Malik; Paolacci, Stefano

Nature Genetics. Jun2015, Vol. 47 Issue 6, p661-667. 7p. 1 Color Photograph, 2 Diagrams, 1 Chart, 2 Graphs.

Wallis M; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia.; Bodek SD; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia. simon.bodek@austin.org.au.; Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, Australia. simon.bodek@austin.org.au.; Munro J; The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Australia.; Rafehi H; The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Australia.; Bennett MF; The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Australia.; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; Ye Z; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; Schneider A; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; Gardiner F; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; Valente G; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Murdoch E; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Uebergang E; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia.; Hunter J; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Stutterd C; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Victorian Clinical Genetics Service, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Australia.; Huq A; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Genetic Medicine Service, The Royal Melbourne Hospital, Melbourne, Australia.; Salmon L; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Genetics Service, Royal Prince Alfred Hospital, Melbourne, Australia.; Scheffer I; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; Department of Paediatrics, Austin Health, Melbourne, Australia.; Eratne D; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; Neuropsychiatry, The Royal Melbourne Hospital, Melbourne, Australia.; Meyn S; Centre for Human Genomics and Precision Medicine, University of Wisconsin-Madison, Madison, WI, USA.; Fong CY; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; John T; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, Australia.; Peter MacCallum Cancer Centre, Melbourne, Australia.; Mullen S; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; White SM; Victorian Clinical Genetics Service, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Australia.; Brown NJ; Victorian Clinical Genetics Service, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Australia.; McGillivray G; Victorian Clinical Genetics Service, Melbourne, Australia.; Genetics Service, Mercy Hospital for Women, Melbourne, Australia.; Chen J; Neurology Service, Austin Health, Melbourne, Australia.; Richmond C; Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.; Hughes A; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, Australia.; Krzesinski E; Monash Health Genetics Clinic, Melbourne, Australia.; Fennell A; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Monash Health Genetics Clinic, Melbourne, Australia.; Chambers B; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, Australia.; Santoreneos R; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Victorian Clinical Genetics Service, Melbourne, Australia.; Le Fevre A; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Victorian Clinical Genetics Service, Melbourne, Australia.; Hildebrand MS; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; Bahlo M; The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Australia.; Christodoulou J; Victorian Clinical Genetics Service, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Australia.; Delatycki M; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Victorian Clinical Genetics Service, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Australia.; Berkovic SF; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: 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

Ludlow MJ; Leeds Institute of Cardiovascular and Metabolic Medicine, School of Medicine, University of Leeds, Leeds LS2 9JT, UK.; Povstyan OV; Leeds Institute of Cardiovascular and Metabolic Medicine, School of Medicine, University of Leeds, Leeds LS2 9JT, UK.; Linley DM; Leeds Institute of Cardiovascular and Metabolic Medicine, School of Medicine, University of Leeds, Leeds LS2 9JT, UK.; Martin-Almedina S; School of Health & Medical Sciences, City St George's, University of London, London SW17 0RE, UK.; Revill C; School of Chemistry, University of Leeds, Leeds LS2 9JT, UK.; Cuthbertson K; School of Chemistry, University of Leeds, Leeds LS2 9JT, UK.; Smith KA; Leeds Institute of Cardiovascular and Metabolic Medicine, School of Medicine, University of Leeds, Leeds LS2 9JT, UK.; Fay E; School of Health & Medical Sciences, City St George's, University of London, London SW17 0RE, UK.; Fotiou E; School of Health & Medical Sciences, City St George's, University of London, London SW17 0RE, UK.; Bush A; Paediatric Respiratory Medicine, NHLI, Imperial College London, London, UK.; Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, London SW3 6NP, UK.; Hogg C; Paediatric Respiratory Medicine, NHLI, Imperial College London, London, UK.; Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, London SW3 6NP, UK.; Linden T; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany.; Tan NB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Del Rey Jimenez JC; South West Thames Regional Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.; Sackey E; South West Thames Regional Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.; Dempsey E; School of Health & Medical Sciences, City St George's, University of London, London SW17 0RE, UK.; South West Thames Regional Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.; Mansour S; School of Health & Medical Sciences, City St George's, University of London, London SW17 0RE, UK.; South West Thames Regional Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.; Parsonage G; Leeds Institute of Cardiovascular and Metabolic Medicine, School of Medicine, University of Leeds, Leeds LS2 9JT, UK.; Kalli AC; Leeds Institute of Cardiovascular and Metabolic Medicine, School of Medicine, University of Leeds, Leeds LS2 9JT, UK.; Foster R; School of Chemistry, University of Leeds, Leeds LS2 9JT, UK.; Ostergaard P; School of Health & Medical Sciences, City St George's, University of London, London SW17 0RE, UK.; Beech DJ; Leeds Institute of Cardiovascular and Metabolic Medicine, School of Medicine, University of Leeds, Leeds LS2 9JT, UK.

Publisher: Cell Press Country of Publication: United States NLM ID: 101724038 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-0042 (Electronic) Linking ISSN: 25890042 NLM ISO Abbreviation: iScience Subsets: PubMed not MEDLINE

Stenton SL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Laricchia K; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Lake NJ; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Chaluvadi S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ganesh V; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; DiTroia S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Heir E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Abu Shanap M; Hematology/Oncology, Bone Marrow Transplantation and Cellular Therapy, Pediatric Department, King Hussein Cancer Centre (KHCC), Amman, Jordan.; Barrows C; Department of Neurosciences, University of California, San Diego, San Diego, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Berger S; Children's National Research Institute, Washington, DC, USA.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Bujakowska KM; Ocular Genomics Institute, Massachusetts Eye and Ear, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; Campagna DR; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Compton AG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Fleming MD; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Gleeson JG; Department of Neurosciences, University of California, San Diego, San Diego, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Haliloglu G; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Pierce EA; Ocular Genomics Institute, Massachusetts Eye and Ear, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; Place EM; Ocular Genomics Institute, Massachusetts Eye and Ear, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; Sankaran VG; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02215, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Shimamura A; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02215, USA.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Thorburn DR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12311, Egypt.; Vilain E; Institute for Clinical and Translational Science, University of California, Irvine, Irvine, CA, USA.; Lek M; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. Electronic address: odonnell@broadinstitute.org.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Bergen, Nicole J Van; Bell, Katrina M; Carey, Kirsty; Gear, Russell; Massey, Sean; Murrell, Edward K; Gallacher, Lyndon; Pope, Kate; Lockhart, Paul J; Kornberg, Andrew; Pais, Lynn; Walkiewicz, Marzena; Simons, Cas; Flagship, MCRI Rare Diseases; Wickramasinghe, Vihandha O; White, Susan M; Christodoulou, John

Human Molecular Genetics; Feb2022, Vol. 31 Issue 3, p362-375, 14p

Shah, Margit; Selvanathan, Arthavan; Baynam, Gareth; Berman, Yemima; Boughtwood, Tiffany; Freckmann, Mary‐Louise; Parasivam, Gayathri; White, Susan M; Grainger, Natalie; Kirk, Edwin P; Ma, Alan SL; Sachdev, Rani

Journal of Paediatrics & Child Health. Jan2022, Vol. 58 Issue 1, p8-15. 8p.

Akesson, Lauren S; Francis, David; de Silva, Michelle; Cole, Theresa; Simm, Peter; Oliver, Mark; White, Susan M

Journal of Paediatrics & Child Health. Jul2021, Vol. 57 Issue 7, p1109-1112. 4p.

Casauria S; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Collins F; Clinical Genetics Service, Institute of Precision Medicine and Bioinformatics, RPAH, Sydney, NSW, Australia.; Specialty of Genomic Medicine, University of Sydney, Sydney, NSW, Australia.; White SM; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.; Konings P; National Centre for Geographic Resources & Analysis in Primary Health Care, The National Centre for Epidemiology and Population Health, Australian National University, Canberra, ACT, Australia.; Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.; Pachter N; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.; Medical School, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia.; School of Medicine, Curtin University, Perth, WA, Australia.; McGaughran J; Genetic Health Queensland, Royal Brisbane & Women's Hospital, Brisbane, QLD, Australia.; School of Medicine, The University of Queensland, Brisbane, QLD, Australia.; Barnett C; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Adelaide, SA, Australia.; Best S; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia. stephanie.best@unimelb.edu.au.; School of Health Sciences, University of Melbourne, Melbourne, VIC, Australia. stephanie.best@unimelb.edu.au.; Department of Health Services Research, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia. stephanie.best@unimelb.edu.au.

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