부산대학교 도서관

Eden V. Haverfield; Edward D. Esplin; Sienna J. Aguilar; Kathryn E. Hatchell; Kelly E. Ormond; Andrea Hanson-Kahn; Paldeep S. Atwal; Sarah Macklin-Mantia; Stephanie Hines; Caron W.-M. Sak; Steven Tucker; Steven B. Bleyl; Peter J. Hulick; Ora K. Gordon; Lea Velsher; Jessica Y. J. Gu; Scott M. Weissman; Teresa Kruisselbrink; Christopher Abel; Michele Kettles; Anne Slavotinek; Bryce A. Mendelsohn; Robert C. Green; Swaroop Aradhya; Robert L. Nussbaum

BMC Medicine, Vol 19, Iss 1, Pp 1-10 (2021)

Klee, Eric W.; Cousin, Margot A.; Pinto e Vairo, Filippo; Morales-Rosado, Joel A.; Macke, Erica L.; Jenkinson, W. Garrett; Ferrer, Alejandro; Schultz-Rogers, Laura E.; Olson, Rory J.; Oliver, Gavin R.; Sigafoos, Ashley N.; Schwab, Tanya L.; Zimmermann, Michael T.; Urrutia, Raul A.; Kaiwar, Charu; Gupta, Aditi; Blackburn, Patrick R.; Boczek, Nicole J.; Prochnow, Carri A.; Lowy, Rebecca J.; Mulvihill, Lindsay A.; McAllister, Tammy M.; Aoudia, Stacy L.; Kruisselbrink, Teresa M.; Gunderson, Lauren B.; Kemppainen, Jennifer L.; Fisher, Laura J.; Tarnowski, Jessica M.; Hager, Megan M.; Kroc, Sarah A.; Bertsch, Nicole L.; Agre, Katherine E.; Jackson, Jessica L.; Macklin-Mantia, Sarah K.; Murphree, Marine I.; Rust, Laura M.; Summer Bolster, Jolene M.; Beck, Scott A.; Atwal, Paldeep S.; Ellingson, Marissa S.; Barnett, Sarah S.; Rasmussen, Kristen J.; Lahner, Carrie A.; Niu, Zhiyv; Hasadsri, Linda; Ferber, Matthew J.; Marcou, Cherisse A.; Clark, Karl J.; Pichurin, Pavel N.; Deyle, David R.; Morava-Kozicz, Eva; Gavrilova, Ralitza H.; Dhamija, Radhika; Wierenga, Klaas J.; Lanpher, Brendan C.; Babovic-Vuksanovic, Dusica; Farrugia, Gianrico; Schimmenti, Lisa A.; Stewart, A. Keith; Lazaridis, Konstantinos N.

Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(3):498-507

Haverfield, Eden V.; Esplin, Edward D.; Aguilar, Sienna J.; Hatchell, Kathryn E.; Ormond, Kelly E.; Hanson-Kahn, Andrea; Atwal, Paldeep S.; Macklin-Mantia, Sarah; Hines, Stephanie; Sak, Caron W.-M.; Tucker, Steven; Bleyl, Steven B.; Hulick, Peter J.; Gordon, Ora K.; Velsher, Lea; Gu, Jessica Y. J.; Weissman, Scott M.; Kruisselbrink, Teresa; Abel, Christopher; Kettles, Michele; Slavotinek, Anne; Mendelsohn, Bryce A.; Green, Robert C.; Aradhya, Swaroop; Nussbaum, Robert L.

BMC Medicine. 19(1)

Haverfield, Eden V.; Esplin, Edward D.; Aguilar, Sienna J.; Hatchell, Kathryn E.; Ormond, Kelly E.; Hanson-Kahn, Andrea; Atwal, Paldeep S.; Macklin-Mantia, Sarah; Hines, Stephanie; Sak, Caron W.-M.; Tucker, Steven; Bleyl, Steven B.; Hulick, Peter J.; Gordon, Ora K.; Velsher, Lea; Gu, Jessica Y. J.; Weissman, Scott M.; Kruisselbrink, Teresa; Abel, Christopher; Kettles, Michele; Slavotinek, Anne; Mendelsohn, Bryce A.; Green, Robert C.; Aradhya, Swaroop; Nussbaum, Robert L.

BMC Medicine. 19(1)

Sheppard, S.E.; Bryant, L.; Wickramasekara, R.N.; Vaccaro, C.; Robertson, B.; Hallgren, J.; Hulen, J.; Watson, C.J.; Faundes, V.; Duffourd, Y.; Lee, P.; Simon, M.C.; Cruz, X. de la; Padilla, N.; Flores-Mendez, M.; Akizu, N.; Smiler, J.; Pellegrino Da Silva, R.; Li, D.; March, M.; Diaz-Rosado, A.; Peixoto de Barcelos, I.; Choa, Z.X.; Lim, C.Y.; Dubourg, C.; Journel, H.; Demurger, F.; Mulhern, M.; Akman, C.; Lippa, N.; Andrews, M.; Baldridge, D.; Constantino, J.; Haeringen, A. van; Snoeck-Streef, I.; Chow, P.; Hing, A.; Graham Jr, J.M.; Au, M.; Faivre, L.; Shen, W.; Mao, R.; Palumbos, J.; Viskochil, D.; Gahl, W.; Tifft, C.; Macnamara, E.; Hauser, N.; Miller, R.; Maffeo, J.; Afenjar, A.; Doummar, D.; Keren, B.; Arn, P.; Macklin-Mantia, S.; Meerschaut, I.; Callewaert, B.; Reis, A.; Zweier, C.; Brewer, C.; Saggar, A.; Smeland, M.F.; Kumar, Ajith; Elmslie, F.; Deshpande, C.; Nizon, M.; Cogne, B.; Ierland, Y. van; Wilke, M.; Slegtenhorst, M. van; Koudijs, S.; Chen, J.Y.; Dredge, D.; Pier, D.; Wortmann, S.B.; Kamsteeg, E.J.; Koch, J.; Haynes, D.; Pollack, L.; Titheradge, H.; Ranguin, K.; Denommé-Pichon, A.S.; Weber, S.; Perez de la Fuente, R.; Sanchez Del Pozo, J.; Lezana Rosales, J.M.; Joset, P.; Steindl, K.; Rauch, A.; Mei, D.; Mari, F.; Guerrini, R.; Lespinasse, J.; Tran Mau-Them, F.; Philippe, C.; Dauriat, B.; Raymond, L.; Moutton, S.; Cueto-González, A.M.; Tan, T.Y.; Mignot, C.; Grotto, S.; Renaldo, F.; Drivas, T.G.; Hennessy, L.; Raper, A.; Parenti, I.; Kaiser, F.J.; Kuechler, A.; Busk, Ø.L.; Islam, L.; Siedlik, J.A.; Henderson, L.B.; Juusola, J.; Person, R.; Schnur, R.E.; Vitobello, A.; Banka, S.; Bhoj, E.J.; Stessman, H.A.F.

Science Advances; 2375-2548; 10; 9; eade1463; ~Science Advances~~~~~2375-2548~10~9~~eade1463

Eden V. Haverfield; Edward D. Esplin; Sienna J. Aguilar; Kathryn E. Hatchell; Kelly E. Ormond; Andrea Hanson-Kahn; Paldeep S. Atwal; Sarah Macklin-Mantia; Stephanie Hines; Caron W.-M. Sak; Steven Tucker; Steven B. Bleyl; Peter J. Hulick; Ora K. Gordon; Lea Velsher; Jessica Y. J. Gu; Scott M. Weissman; Teresa Kruisselbrink; Christopher Abel; Michele Kettles; Anne Slavotinek; Bryce A. Mendelsohn; Robert C. Green; Swaroop Aradhya; Robert L. Nussbaum

BMC Medicine, Vol 19, Iss 1, Pp 1-1 (2021)

Klee, Eric W.; Cousin, Margot A.; Pinto e Vairo, Filippo; Morales-Rosado, Joel A.; Macke, Erica L.; Jenkinson, W. Garrett; Ferrer, Alejandro; Schultz-Rogers, Laura E.; Olson, Rory J.; Oliver, Gavin R.; Sigafoos, Ashley N.; Schwab, Tanya L.; Zimmermann, Michael T.; Urrutia, Raul A.; Kaiwar, Charu; Gupta, Aditi; Blackburn, Patrick R.; Boczek, Nicole J.; Prochnow, Carri A.; Lowy, Rebecca J.; Mulvihill, Lindsay A.; McAllister, Tammy M.; Aoudia, Stacy L.; Kruisselbrink, Teresa M.; Gunderson, Lauren B.; Kemppainen, Jennifer L.; Fisher, Laura J.; Tarnowski, Jessica M.; Hager, Megan M.; Kroc, Sarah A.; Bertsch, Nicole L.; Agre, Katherine E.; Jackson, Jessica L.; Macklin-Mantia, Sarah K.; Murphree, Marine I.; Rust, Laura M.; Summer Bolster, Jolene M.; Beck, Scott A.; Atwal, Paldeep S.; Ellingson, Marissa S.; Barnett, Sarah S.; Rasmussen, Kristen J.; Lahner, Carrie A.; Niu, Zhiyv; Hasadsri, Linda; Ferber, Matthew J.; Marcou, Cherisse A.; Clark, Karl J.; Pichurin, Pavel N.; Deyle, David R.; Morava-Kozicz, Eva; Gavrilova, Ralitza H.; Dhamija, Radhika; Wierenga, Klaas J.; Lanpher, Brendan C.; Babovic-Vuksanovic, Dusica; Farrugia, Gianrico; Schimmenti, Lisa A.; Stewart, A. Keith; Lazaridis, Konstantinos N.

In Genetics in Medicine February 2023 25(2)

Sheppard SE; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.; Bryant L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Wickramasekara RN; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Molecular Diagnostic Laboratory, Boys Town National Research Hospital, Omaha, NE, USA.; Vaccaro C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Robertson B; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Hallgren J; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Hulen J; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Watson CJ; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Faundes V; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.; Duffourd Y; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Lee P; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Simon MC; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; de la Cruz X; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.; Institució Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Spain.; Padilla N; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.; Flores-Mendez M; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Smiler J; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; 10x Genomics, Pleasanton, CA, USA.; Pellegrino Da Silva R; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; March M; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Diaz-Rosado A; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Peixoto de Barcelos I; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Choa ZX; Epithelial Epigenetics and Development Laboratory, ASTAR Skin Research Labs, Singapore, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.; Lim CY; Epithelial Epigenetics and Development Laboratory, ASTAR Skin Research Labs, Singapore, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.; Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France.; Journel H; Service de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France.; Demurger F; Department of Clinical Genetics, Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France.; Mulhern M; Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA.; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Akman C; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Lippa N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Andrews M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Baldridge D; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Constantino J; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.; Snoeck-Streef I; Department of Child Neurology, University Medical Center Utrecht, Utrecht, Netherlands.; Chow P; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Hing A; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Graham JM Jr; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA.; Au M; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA.; Faivre L; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Dijon, Bourgogne, France.; Shen W; University of Utah, Salt Lake City, UT, USA.; Mayo Clinic, Rochester, MN, USA.; Mao R; University of Utah, Salt Lake City, UT, USA.; Palumbos J; University of Utah, Salt Lake City, UT, USA.; Viskochil D; University of Utah, Salt Lake City, UT, USA.; Gahl W; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Tifft C; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Macnamara E; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Hauser N; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA.; Miller R; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA.; Maffeo J; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA.; Afenjar A; AP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France.; Doummar D; AP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France.; Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France.; Arn P; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, FL, USA.; Macklin-Mantia S; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL, USA.; Meerschaut I; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.; Brewer C; Clinical Genetics Department, Royal Devon and Exeter Hospital (Heavitree), Exeter EX1 2ED, UK.; Saggar A; Clinical Genetics Department, St George's Hospital, St George's Healthcare NHS Trust, London SW17 0QT, UK.; Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.; Department of Pediatric Rehabilitation, University Hospital of North Norway, Norway.; Kumar A; Northeast Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK.; Elmslie F; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.; Deshpande C; Department of Medical Genetics, Guy's Hospital, London SE1 9RT, UK.; Nizon M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France.; Cogne B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France.; Nantes Université, CNRS, INSERM, L'institut du thorax, F-44000 Nantes, France.; van Ierland Y; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands.; Koudijs S; Department of Neurology, Erasmus University Medical Center-Sophia Children's Hospital, P.O. Box 2040, 3000 CA Rotterdam, Netherlands.; Chen JY; Neurology Department, Massachusetts General Hospital, Boston, MA, USA.; Dredge D; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.; Pier D; Neurology Department, Massachusetts General Hospital, Boston, MA, USA.; Wortmann S; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.; Amalia Children's Hospital, RadboudUMC Nijmegen, Nijmegen, Netherlands.; Kamsteeg EJ; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.; Koch J; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.; Haynes D; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA.; Pollack L; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA.; Titheradge H; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK.; Ranguin K; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France.; Denommé-Pichon AS; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Weber S; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France.; Pérez de la Fuente R; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain.; Sánchez Del Pozo J; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain.; Lezana Rosales JM; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain.; Joset P; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland.; Steindl K; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland.; Rauch A; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland.; University of Zurich, University Children's Hospital Zurich, 8032 Zurich, Switzerland.; University of Zurich, URPP Adaptive Brain Circuits in Development and Learning (AdaBD), Zurich, Switzerland.; University of Zurich Research Priority Program (URPP) AdaBD: Adaptive Brain Circuits in Development and Learning, Zurich 8006, Switzerland.; University of Zurich Research Priority Program (URPP) ITINERARE: Innovative Therapies in Rare Diseases, Zurich 8006, Switzerland.; Mei D; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Mari F; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Guerrini R; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Lespinasse J; UF de Génétique Chromosomique, Centre Hospitalier de Chambéry, Hôtel-dieu, France.; Tran Mau-Them F; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Philippe C; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Dauriat B; Service de cytogénétique et génétique médicale, Centre Hospitalier Universitaire de Limoges, France.; Raymond L; Service de génétique, Laboratoire Eurofins Biomnis, Lyon, France.; Moutton S; Service de génétique, Laboratoire Eurofins Biomnis, Lyon, France.; Cueto-González AM; Hospital Vall d'Hebron, Barcelona, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Mignot C; AP-HP, Sorbonne Université, Département de Génétique, Paris, France.; Grotto S; AP-HP, Sorbonne Université, Département de Génétique, Paris, France.; Renaldo F; AP-HP, Sorbonne Université, Département de neuropediatrie, Centre de référence neurogénétique, Hôpital Armand Trousseau, Paris, France.; Drivas TG; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Hennessy L; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Raper A; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Parenti I; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Kaiser FJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Essener Zentrum für Seltene Erkrankungen (EZSE), Universitätsklinikum Essen, Essen, Germany.; Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Islam L; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK.; Siedlik JA; Department of Exercise Science and Pre-Health Professions, Creighton University, Omaha, NE, USA.; Henderson LB; GeneDx, Gaithersburg, MD, USA.; Juusola J; GeneDx, Gaithersburg, MD, USA.; Person R; GeneDx, Gaithersburg, MD, USA.; Schnur RE; GeneDx, Gaithersburg, MD, USA.; Department of Pediatrics, Division of Genetics Cooper Medical School of Rowan University Cooper University Health Care 3, Cooper Plaza, Camden, NJ, USA.; Vitobello A; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Stessman HAF; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

Morales-Rosado JA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, MN, USA.; Schwab TL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA.; Macklin-Mantia SK; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics at Mayo Clinic, Jacksonville, FL, USA.; Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA; Division of Neurology and Developmental Neuroscience and Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA; Baylor Genetics Laboratories, Houston, TX, USA.; Boyum GE; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA.; Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Cong ATQ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA.; Lotze TE; Division of Neurology and Developmental Neuroscience and Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Mohila CA; Department of Pathology & Immunology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.; Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Bharucha-Goebel D; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA; Division of Neurology, Children's National Hospital, Washington, DC, USA.; Chao KR; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Grunseich C; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Bruels CC; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.; Littel HR; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.; Estrella EA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Pais L; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Kang PB; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA; Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA.; Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.; Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.; Schellenberg MJ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA.; Clark KJ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA.; Wierenga KJ; Department of Clinical Genomics at Mayo Clinic, Jacksonville, FL, USA.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. Electronic address: klee.eric@mayo.edu.

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

Macklin-Mantia SK; Department of Clinical Genomics, Mayo Clinic, Jacksonville, Florida, USA.; Clift KE; Clinical Studies Unit, Mayo Clinic, Jacksonville, Florida, USA.; Maimone S; Department of Radiology, Mayo Clinic, Jacksonville, Florida, USA.; Hodge DO; Department of Health Sciences Research, Mayo Clinic, Jacksonville, Florida, USA.; Riegert-Johnson D; Department of Clinical Genomics, Mayo Clinic, Jacksonville, Florida, USA.; Department of Gastroenterology, Mayo Clinic, Jacksonville, Florida, USA.; Hines SL; Division of Diagnostic & Consultative Medicine, Department of Medicine, Mayo Clinic, Florida, Jacksonville, USA.; Department of General Internal Medicine, Mayo Clinic, Scottsdale, Arizona, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE