부산대학교 도서관

Tan, Jit Kai; Arno, Gavin; Josifova, Dragana; Mohamed, Moin D.; Mahroo, Omar A.

Documenta Ophthalmologica: The Journal of Clinical Electrophysiology and Vision - The Official Journal of the International Society for Clinical Electrophysiology and Vision. :1-6

Fitzgerald, T.W.; Gerety, S.S.; Jones, W.D.; van Kogelenberg, M.; King, D.A.; McRae, J.; Morley, K.I.; Parthiban, V.; Al-Turki, S.; Ambridge, K.; Barrett, D.M.; Bayzetinova, T.; Clayton, S.; Coomber, E.L.; Gribble, S.; Jones, P.; Krishnappa, N.; Mason, L.E.; Middleton, A.; Miller, R.; Prigmore, E.; Rajan, D.; Sifrim, A.; Tivey, A.R.; Ahmed, M.; Akawi, N.; Andrews, R.; Anjum, U.; Archer, H.; Armstrong, R.; Balasubramanian, M.; Banerjee, R.; Barelle, D.; Batstone, P.; Baty, D.; Bennett, C.; Berg, J.; Bernhard, B.; Bevan, A.P.; Blair, E.; Blyth, M.; Bohanna, D.; Bourdon, L.; Bourn, D.; Brady, A.; Bragin, E.; Brewer, C.; Brueton, L.; Brunstrom, K.; Bumpstead, S.J.; Bunyan, D.J.; Burn, J.; Burton, J.; Canham, N.; Castle, B.; Chandler, K.; Clasper, S.; Clayton-Smith, J.; Cole, T.; Collins, A.; Collinson, M.N.; Connell, F.; Cooper, N.; Cox, H.; Cresswell, L.; Cross, G.; Crow, Y.; D’Alessandro, P.M.; Dabir, T.; Davidson, R.; Davies, S.; Dean, J.; Deshpande, C.; Devlin, G.; Dixit, A.; Dominiczak, A.; Donnelly, C.; Donnelly, D.; Douglas, A.; Duncan, A.; Eason, J.; Edkins, S.; Ellard, S.; Ellis, P.; Elmslie, F.; Evans, K.; Everest, S.; Fendick, T.; Fisher, R.; Flinter, F.; Foulds, N.; Fryer, A.; Fu, B.; Gardiner, C.; Gaunt, L.; Ghali, N.; Gibbons, R.; Pereira, S.L. Gomes; Goodship, J.; Goudie, D.; Gray, E.; Greene, P.; Greenhalgh, L.; Harrison, L.; Hawkins, R.; Hellens, S.; Henderson, A.; Hobson, E.; Holden, S.; Holder, S.; Hollingsworth, G.; Homfray, T.; Humphreys, M.; Hurst, J.; Ingram, S.; Irving, M.; Jarvis, J.; Jenkins, L.; Johnson, D.; Jones, D.; Jones, E.; Josifova, D.; Joss, S.; Kaemba, B.; Kazembe, S.; Kerr, B.; Kini, U.; Kinning, E.; Kirby, G.; Kirk, C.; Kivuva, E.; Kraus, A.; Kumar, D.; Lachlan, K.; Lam, W.; Lampe, A.; Langman, C.; Lees, M.; Lim, D.; Lowther, G.; Lynch, S.A.; Magee, A.; Maher, E.; Mansour, S.; Marks, K.; Martin, K.; Maye, U.; McCann, E.; McConnell, V.; McEntagart, M.; McGowan, R.; McKay, K.; McKee, S.; McMullan, D.J.; McNerlan, S.; Mehta, S.; Metcalfe, K.; Miles, E.; Mohammed, S.; Montgomery, T.; Moore, D.; Morgan, S.; Morris, A.; Morton, J.; Mugalaasi, H.; Murday, V.; Nevitt, L.; Newbury-Ecob, R.; Norman, A.; O’Shea, R.; Ogilvie, C.; Park, S.; Parker, M.J.; Patel, C.; Paterson, J.; Payne, S.; Phipps, J.; Pilz, D.T.; Porteous, D.; Pratt, N.; Prescott, K.; Price, S.; Pridham, A.; Proctor, A.; Purnell, H.; Ragge, N.; Rankin, J.; Raymond, L.; Rice, D.; Robert, L.; Roberts, E.; Roberts, G.; Roberts, J.; Roberts, P.; Ross, A.; Rosser, E.; Saggar, A.; Samant, S.; Sandford, R.; Sarkar, A.; Schweiger, S.; Scott, C.; Scott, R.; Selby, A.; Seller, A.; Sequeira, C.; Shannon, N.; Sharif, S.; Shaw-Smith, C.; Shearing, E.; Shears, D.; Simonic, I.; Simpkin, D.; Singzon, R.; Skitt, Z.; Smith, A.; Smith, B.; Smith, K.; Smithson, S.; Sneddon, L.; Splitt, M.; Squires, M.; Stewart, F.; Stewart, H.; Suri, M.; Sutton, V.; Swaminathan, G.J.; Sweeney, E.; Tatton-Brown, K.; Taylor, C.; Taylor, R.; Tein, M.; Temple, I.K.; Thomson, J.; Tolmie, J.; Torokwa, A.; Treacy, B.; Turner, C.; Turnpenny, P.; Tysoe, C.; Vandersteen, A.; Vasudevan, P.; Vogt, J.; Wakeling, E.; Walker, D.; Waters, J.; Weber, A.; Wellesley, D.; Whiteford, M.; Widaa, S.; Wilcox, S.; Williams, D.; Williams, N.; Woods, G.; Wragg, C.; Wright, M.; Yang, F.; Yau, M.; Carter, N.P.; Parker, M.; Firth, H.V.; FitzPatrick, D.R.; Wright, C.F.; Barrett, J.C.; Hurles, M.E.; Aitken, Stuart ; Firth, Helen V. ; McRae, Jeremy ; Halachev, Mihail ; Kini, Usha ; Parker, Michael J. ; Lees, Melissa M. ; Lachlan, Katherine ; Sarkar, Ajoy ; Joss, Shelagh ; Splitt, Miranda ; McKee, Shane ; Németh, Andrea H. ; Scott, Richard H. ; Wright, Caroline F. ; Marsh, Joseph A. ; Hurles, Matthew E. ; FitzPatrick, David R.

In The American Journal of Human Genetics 7 November 2019 105(5):933-946

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Nature
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Jeffries L; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT.; Mis EK; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT.; McWalter K; GeneDx, Gaithersburg, MD.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Brodsky NN; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT; Yale University School of Medicine, Department of Immunobiology, New Haven, CT.; Carpier JM; Yale University School of Medicine, Department of Immunobiology, New Haven, CT.; Ji W; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT.; Ionita C; Yale University School of Medicine, Department of Pediatrics, New Haven, CT.; Roy B; Yale University School of Medicine, Department of Neurology, New Haven, CT.; Morrow JS; Yale University School of Medicine, Department of Pathology, New Haven, CT.; Darbinyan A; Yale University School of Medicine, Department of Pathology, New Haven, CT.; Iyer K; Yale University School of Medicine, Department of Pathology, New Haven, CT.; Aul RB; Hospital for Sick Children, Division of Clinical and Metabolic Genetics, Toronto, Ontario, Canada.; Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Chao KR; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA.; Cobbold L; South West Thames Regional Genetics Service, St George's, University of London, London, United Kingdom.; Cohen S; Children's Hospital of Philadelphia, Division of Neurology, Philadelphia, PA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA; University of Pennsylvania Perelman School of Medicine, Department of Neurology, Philadelphia, PA.; Custodio HM; Department of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, WC1N 3BG, United Kingdom; Chalfont Centre for Epilepsy, Buckinghamshire, United Kingdom.; Drummond-Borg M; Cook Children's Medical Center, Division of Genetics, Fort Worth, TX.; Elmslie F; South West Thames Regional Genetics Service, St George's, University of London, London, United Kingdom.; Finanger E; Oregon Health & Science University, Portland, OR.; Hainline BE; Indiana University School of Medicine, Indiana University Health Physicians, Indianapolis, IN.; Helbig I; Children's Hospital of Philadelphia, Division of Neurology, Philadelphia, PA; University of Pennsylvania Perelman School of Medicine, Department of Neurology, Philadelphia, PA.; Hewson S; Hospital for Sick Children, Division of Clinical and Metabolic Genetics, Toronto, Ontario, Canada.; Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Jackson A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Josifova D; Guys and St Thomas NHS Trust, Clinical Genetics, London, United Kingdom.; Konstantino M; Yale Pediatric Genomics Discovery Program, New Haven, CT.; Leach ME; Oregon Health & Science University, Portland, OR.; Mak B; University of California Los Angeles, David Geffen School of Medicine, Department of Human Genetics, Los Angeles, CA; Current affiliation: Genome Medical, South San Francisco, CA.; McCormick D; King's College Hospital, Paediatric Neurosciences, London, United Kingdom.; McGee E; University of California Los Angeles, David Geffen School of Medicine, Department of Human Genetics, Los Angeles, CA; University of California Los Angeles, Clinical Genomics Center, Los Angeles, CA; University of California Los Angeles, Center for Duchenne Muscular Dystrophy, Los Angeles, CA.; Nelson S; University of California Los Angeles, David Geffen School of Medicine, Department of Human Genetics, Los Angeles, CA; University of California Los Angeles, Clinical Genomics Center, Los Angeles, CA; University of California Los Angeles, Center for Duchenne Muscular Dystrophy, Los Angeles, CA.; Nguyen J; Cook Children's Medical Center, Division of Genetics, Fort Worth, TX.; Nugent K; Baylor College of Medicine, Department of Pediatrics, Houston, TX; Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX; Current affiliation: Cooper Surgical, Trumbull, CT.; Ortega L; Cook Children's Medical Center, Division of Genetics, Fort Worth, TX.; Goodkin HP; University of Virginia School of Medicine, Charlottesville, VA.; Roeder E; Baylor College of Medicine, Department of Pediatrics, Houston, TX; Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX.; Roy S; Cook Children's Medical Center, Division of Endocrinology and Diabetes, Fort Worth, TX.; Sapp K; Indiana University School of Medicine, Indiana University Health Physicians, Indianapolis, IN.; Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Current affiliation: University of Iowa Carver College of Medicine, Iowa City, IA.; Sisodiya SM; Department of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, WC1N 3BG, United Kingdom; Chalfont Centre for Epilepsy, Buckinghamshire, United Kingdom.; Stals K; Royal Devon & Exeter NHS Foundation Trust, Exeter Genomics Laboratory, Exeter, United Kingdom.; Towner S; University of Virginia School of Medicine, Charlottesville, VA.; Wilson W; University of Virginia School of Medicine, Charlottesville, VA.; Khokha MK; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT; Yale University School of Medicine, Department of Genetics, New Haven, CT.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Lucas CL; Yale Pediatric Genomics Discovery Program, New Haven, CT; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Lakhani SA; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT. Electronic address: saquib.lakhani@yale.edu.

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

Lessel I; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.; Baresic A; Division of Computing and Data Science, Ruđer Bošković Institute, 10000 Zagreb, Croatia.; Chinn IK; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX 77030, USA.; May J; Institute of Immunology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Goenka A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Chandler KE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Afenjar A; Département de Génétique Paris, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, APHP, Sorbonne Université, Paris, France.; Averdunk L; Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich Heine University, Düsseldorf, Germany; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, 40225 Düsseldorf, Germany.; Bedeschi MF; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Unit, Milan, Italy.; Besnard T; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes, France.; Brager R; Division of Rheumatology, Immunology and Allergy, McMaster Children's Hospital, Hamilton, ON L8S 4K1, Canada.; Brick L; Division of Genetics and Metabolics, McMaster Children's Hospital, Hamilton, ON L8S 4K1, Canada.; Brugger M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Department of Obstetrics and Gynecology, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Byrne S; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.; Calle-Martín O; Immunology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Cardenas P; Nicklaus Children's Hospital, Miami, FL, USA.; Chappé C; Service d'oncohematologie pédiatrique, CHU Rennes, 35000 Rennes, France.; Chong HJ; Department of Pediatrics, University of Pittsburgh School of Medicine, UPMC Children's Hospital, Pittsburgh, PA 15224, USA.; Cogne B; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes, France.; Conboy E; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Courtin T; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.; Deb W; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes, France.; Dilena R; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuropathophysiology Unit, Milan, Italy.; Dubourg C; Service de Génétique Moléculaire et Génomique, CHU, 35033 Rennes, France; University Rennes, CNRS, IGDR, UMR 6290, 35000 Rennes, France.; Elgizouli M; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Fernandes E; Division of Genetics, Department of Pediatrics, Nemours Children's Health, Wilmington, DE, USA.; Fitzgerald KK; Department of Cardiology, Nemours Children's Hospital, Wilmington, DE, USA.; Gangi S; Neonatal Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza, 28, 20122 Milan, Italy.; George-Abraham JK; Dell Children's Medical Group, Austin, TX, USA; Department of Pediatrics, The University of Texas at Austin Dell Medical School, Austin, TX, USA.; Gucsavas-Calikoglu M; Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599, USA.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Hadonou M; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.; Hanker B; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.; Hüning I; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.; Iascone M; Medical Genetics Laboratory, ASST Papa Giovanni XXIII, 24128 Bergamo, Italy.; Isidor B; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes, France.; Järvelä I; Department of Medical Genetics, University of Helsinki, P.O. Box 720, 00251 Helsinki, Finland.; Jin JJ; Division of Pediatric Pulmonology, Allergy, and Sleep Medicine, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN, USA.; Jorge AAL; Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.; Josifova D; Department of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Kalinauskiene R; Department of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Keren B; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.; Kessler E; Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Kölbel H; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Essen, Germany.; Kozenko M; Division of Genetics and Metabolics, McMaster Children's Hospital, Hamilton, ON L8S 4K1, Canada.; Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Leal SM; Department of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, Columbia University, New York, NY 10032, USA; Taub Institute for Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, New York, NY, USA.; Leppälä J; The Wellbeing Services County of South Ostrobothnia, 60280 Seinäjoki, Finland.; Luu SM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, New York, NY, USA; George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA; Biology PhD Program, The Graduate Center, The City University of New York, New York, NY, USA.; Madan-Khetarpal S; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Mancardi M; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Epicare Network for Rare Disease, Genoa, Italy.; Marchi E; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, New York, NY, USA.; Mehta L; Department of Pediatrics, Division of Clinical Genetics, Columbia University Irving Medical Center, New York, NY, USA.; Menendez B; Division of Genetics, University of Illinois College of Medicine, Chicago, IL 60612, USA.; Morel CF; Fred A. Litwin Family Centre in Genetic Medicine, Department of Medicine, University Health Network, Toronto, ON, Canada.; Harasink SM; Division of Genetics, Department of Pediatrics, Nemours Children's Health, Wilmington, DE, USA.; Nevay DL; Fred A. Litwin Family Centre in Genetic Medicine, Department of Medicine, University Health Network, Toronto, ON, Canada.; Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Odent S; Clinical Genetics, Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, Rennes, France; University Rennes, CNRS, INSERM, Institut de génétique et développement de Rennes, UMR 6290, ERL U1305, Rennes, France.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands.; Pappas J; Department of Pediatrics, New York University Grossman School of Medicine, New York, NY 10016, USA.; Pastore MT; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Perilla-Young Y; Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Powell-Hamilton N; Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE, USA.; Rabin R; Department of Pediatrics, New York University Grossman School of Medicine, New York, NY 10016, USA.; Rekab A; Department of Pediatrics, Division of Clinical Genetics, Columbia University Irving Medical Center, New York, NY, USA.; Rezende RC; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.; Robert L; Department of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Romano F; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Poths K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Schrauwen I; Department of Translational Neurosciences, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.; Sebastian J; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Short J; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.; Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.; Sullivan J; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Szakszon K; Institute of Pediatrics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.; Tan QKG; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Department of Pediatrics, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University Hospital of Munich, Munich, Germany.; Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich Heine University, Düsseldorf, Germany.; Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Maeding N; Cell Therapy Institute, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Strunk D; Cell Therapy Institute, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Begtrup A; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Lupski JR; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Tolosa E; Institute of Immunology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; German Center for Child and Adolescent Health (DZKJ), partner site Hamburg, Hamburg, Germany.; Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany. Electronic address: davor.lessel@klinik.uni-regensburg.de.

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

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Tomlinson, I 2019, ' Germline selection shapes human mitochondrial DNA diversity ', Science, vol. 364, no. 6442, pp. 749-+ . https://doi.org/10.1126/science.aau6520
NIHR BioResource-Rare Diseases, 100,000 Genomes Project–Rare Diseases Pilot, Wei, W, Tuna, S, Keogh, M J, Smith, K R, Aitman, T J, Beales, P L, Bennett, D L, Gale, D P, Bitner-Glindzicz, M A K, Black, G C, Brennan, P, Elliott, P, Flinter, F A, Floto, R A, Houlden, H, Irving, M, Koziell, A, Maher, E R, Markus, H S, Morrell, N W, Newman, W G, Roberts, I, Sayer, J A, Smith, K G C, Taylor, J C, Watkins, H, Webster, A R, Wilkie, A O M, Williamson, C, Ashford, S, Penkett, C J, Stirrups, K E, Rendon, A, Ouwehand, W H, Bradley, J R, Raymond, F L, Caulfield, M, Turro, E & Chinnery, P F 2019, 'Germline selection shapes human mitochondrial DNA diversity', Science (New York, N.Y.), vol. 364, no. 6442, pp. 1-13. https://doi.org/10.1126/science.aau6520
Science

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EPMA Journal: A journal of predictive, preventive and personalized medicine. May 2016 7(1):1-42

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Nature

Grange LJ; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Reynolds JJ; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Ullah F; Advanced Center for Genetic and Translational Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.; National Institute for Biotechnology and Genetic Engineering (NIBGE-C), Faisalabad, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.; Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes Cedex 1, France.; Shearer RF; Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Latypova X; Service de Génétique Médicale, CHU Nantes, Nantes Cedex 1, France.; Baxley RM; Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, MN, USA.; Oliver AW; Genome Damage and Stability Centre, Science Park Road, University of Sussex, Falmer, Brighton, UK.; Ganesh A; 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Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Le Caignec C; Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale and ToNIC, Toulouse NeuroImaging Center, Inserm, UPS, Université de Toulouse, Toulouse, France. lecaignec.c@chu-toulouse.fr.; Davis EE; Advanced Center for Genetic and Translational Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA. eridavis@luriechildrens.org.; Department of Pediatrics; Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. eridavis@luriechildrens.org.; Stewart GS; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK. g.s.stewart@bham.ac.uk.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Jenkins, D; Seelow, D; Jehee, F; Perlyn, C; Alonso, L; Bueno, D; Donnai, D; Josifova, D; Josifiova, D; Mathijssen, I; Morton, J; Orstavik, K; Sweeney, E; Wall, SA; Marsh, J; Nurnberg, P; Passos-Bueno, MR; Wilkie, A

The American Journal of Human Genetics. 80:1162-1170

Siddiqui, A.; Touska, P.; Josifova, D.; Connor, S. E. J.

AMERICAN JOURNAL OF NEURORADIOLOGY; AUG 5 2021, 6p.