부산대학교 도서관

Szakszon K; Faculty of Medicine Institute of Pediatrics, University of Debrecen, Debrecen, Hungary szakszon.katalin@med.unideb.hu.; Rare Congenital Malformations and Rare intellectual Disability (ERN ITHACA), European Reference Networks, Debrecen, Hungary.; Lourenco CM; Neurogenetics Unit - Inborn Errors of Metabolism Clinics, National Reference Center for Rare Diseases, Medicine School of Sao Jose do Rio Preto, Sao Jose do Rio Preto, Brazil.; Callewaert BL; Center for Medical Genetics, University Hospital Ghent, Gent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Geneviève D; Montpellier University, Inserm Unit U1183, Reference Center for Rare Disease: Developmental Anomalies. Clinical Genetic Unit, CHU Montpellier, Montpellier, France.; Rare Congenital Malformations and Rare Intellectual Disability (ERN ITHACA), European Reference Networks, Montpellier, France.; Rouxel F; Génétique Clinique, Départment de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Montpellier University, Centre de Référence Anomalies du Développement SOOR, Montpellier, France.; Morin D; Rare Kidney Disease Center, Montpellier University Hospital, Montpellier, France.; Denommé-Pichon AS; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.; Vitobello A; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.; Patterson WG; Greenwood Genetic Center Foundation, Greenwood, South Carolina, USA.; Louie R; Greenwood Genetic Center Inc, Greenwood, South Carolina, USA.; Pinto E Vairo F; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA.; Klee E; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA.; Kaiwar C; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA.; Gavrilova RH; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA.; Agre KE; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA.; Jacquemont S; Sainte-Justine Research Center, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada.; Department of Medical Genetics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada.; Khadijé J; Department of Medical Genetics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada.; Giltay J; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; van Gassen K; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Merő G; Faculty of Medicine Institute of Pediatrics, University of Debrecen, Debrecen, Hungary.; Gerkes E; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; Van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Rinne T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Brunner HG; Klinische Genetica, Maastricht University Medical Centre, Maastricht, The Netherlands.; Caluseriu O; Medical Genetics Clinic, University of Alberta, Edmonton, Alberta, Canada.; Grasshoff U; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany.; Kehrer M; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany.; Khelifa MM; Department of Human Genetics, Medical College Hannover, Hannover, Germany.; Bergmann AK; Department of Human Genetics, Hannover Medical School, Hannover, Germany.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Rare Congenital Malformations and Rare intellectual Disability (ERN ITHACA), European Reference Networks, Barcelona, Spain.; Martorell AC; Pediatric Endocrinology Department, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Endocrinology Group, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Vall d'Hebron Research Institute, Barcelona, Spain.; Ramachandrappa S; Clinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Sawyer LB; Department of Medical Genetics, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Fasel P; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Braun D; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Isis A; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.; Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.; McNiven V; University Health Network and Mount Sinai Hospital, Fred A Litwin Family Centre in Genetic Medicine, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, Ontario, Canada.; Ahmed SA; University Health Network and Mount Sinai Hospital, Fred A Litwin Family Centre in Genetic Medicine, Toronto, Ontario, Canada.; Brennenstuhl H; Insittute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schwaibolf EM; Insittute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Battisti G; Centre de Génétique Humaine, Institut de Pathologie et de Genetique asbl, Gosselies, Belgium.; Parmentier B; Centre de Génétique Humaine, Institut de Pathologie et de Genetique asbl, Gosselies, Belgium.; Stevens SJC; Klinische Genetica, Maastricht University Medical Center, Maastricht, The Netherlands.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Fliedner, Anna; Kirchner, Philipp; Wiesener, Antje; van de Beek, Irma; Waisfisz, Quinten; van Haelst, Mieke; Scott, Daryl A; Lalani, Seema R; Rosenfeld, Jill A; Azamian, Mahshid S; Xia, Fan; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Center, UCLA Clinical Genomics; Nelson, Stanley F; Grody, Wayne W; Deignan, Joshua L; Kang, Sung-Hae; Arboleda, Valerie A; Senaratne, T Niroshi; Dorrani, Naghmeh; Dutra-Clarke, Marina S; Kianmahd, Jessica; Hinkamp, Franceska L; Neustadt, Ahna M; Fogel, Brent L; Quintero-Rivera, Fabiola; Noh, Grace J; Lippa, Natalie; Alkelai, Anna; Aggarwal, Vimla; Agre, Katherine E; Gavrilova, Ralitza; Mirzaa, Ghayda M; Straussberg, Rachel; Cohen, Rony; Horist, Brooke; Krishnamurthy, Vidya; McWalter, Kirsty; Juusola, Jane; Davis-Keppen, Laura; Ohden, Lisa; van Slegtenhorst, Marjon; de Man, Stella A; Ekici, Arif B; Gregor, Anne; van de Laar, Ingrid; Zweier, Christiane

American Journal of Human Genetics, vol 107, iss 3

Klee EW; Cousin MA; Pinto E Vairo F; Morales-Rosado JA; Macke EL; Jenkinson WG; Ferrer A; Schultz-Rogers LE; Olson RJ; Oliver GR; Sigafoos AN; Schwab TL; Zimmermann MT; Urrutia RA; Kaiwar C; Gupta A; Blackburn PR; Boczek NJ; Prochnow CA; Lowy RJ; Mulvihill LA; McAllister TM; Aoudia SL; Kruisselbrink TM; Gunderson LB; Kemppainen JL; Fisher LJ; Tarnowski JM; Hager MM; Kroc SA; Bertsch NL; Agre KE; Jackson JL; Macklin-Mantia SK; Murphree MI; Rust LM; Summer Bolster JM; Beck SA; Atwal PS; Ellingson MS; Barnett SS; Rasmussen KJ; Lahner CA; Niu Z; Hasadsri L; Ferber MJ; Marcou CA; Clark KJ; Pichurin PN; Deyle DR; Morava-Kozicz E; Gavrilova RH; Dhamija R; Wierenga KJ; Lanpher BC; Babovic-Vuksanovic D; Farrugia G; Schimmenti LA; Stewart AK; Lazaridis KN

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; PubMed not MEDLINE

Sörmann J; Clarendon Laboratory, Department of Physics, University of Oxford, Oxford, UK.; Kavli Institute for Nanoscience Discovery, University of Oxford, Oxford, UK.; Schewe M; Institute of Physiology, Faculty of Medicine, Kiel University, Kiel, Germany.; Proks P; Clarendon Laboratory, Department of Physics, University of Oxford, Oxford, UK.; Kavli Institute for Nanoscience Discovery, University of Oxford, Oxford, UK.; Jouen-Tachoire T; Clarendon Laboratory, Department of Physics, University of Oxford, Oxford, UK.; Kavli Institute for Nanoscience Discovery, University of Oxford, Oxford, UK.; Department of Pharmacology, University of Oxford, Oxford, UK.; OXION Initiative in Ion Channels and Disease, University of Oxford, Oxford, UK.; Rao S; Department of Biochemistry, University of Oxford, Oxford, UK.; Riel EB; Institute of Physiology, Faculty of Medicine, Kiel University, Kiel, Germany.; Agre KE; Mayo Clinic, Rochester, MN, USA.; Begtrup A; GeneDx, Gaithersburg, MD, USA.; Dean J; Department of Medical Genetics, NHS Grampian, Aberdeen, UK.; Descartes M; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.; Fischer J; Institute for Clinical Genetics, Universitätsklinikum, Technischen Universität Dresden, Dresden, Germany.; Gardham A; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, London, UK.; Lahner C; Mayo Clinic, Rochester, MN, USA.; Mark PR; Spectrum Health Medical Genetics, Grand Rapids, MI, USA.; Muppidi S; Stanford Neurosciences Health Center, Palo Alto, CA, USA.; Pichurin PN; Mayo Clinic, Rochester, MN, USA.; Porrmann J; Institute for Clinical Genetics, Universitätsklinikum, Technischen Universität Dresden, Dresden, Germany.; Schallner J; Department of Neuropediatrics, Universitätsklinikum, Technischen Universität Dresden, Dresden, Germany.; Smith K; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.; Straub V; Institute of Translational and Clinical Research, Newcastle University, Newcastle upon Tyne, UK.; Vasudevan P; University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, UK.; Willaert R; GeneDx, Gaithersburg, MD, USA.; Carpenter EP; OXION Initiative in Ion Channels and Disease, University of Oxford, Oxford, UK.; Centre for Medicines Discovery, University of Oxford, Oxford, UK.; Rödström KEJ; Centre for Medicines Discovery, University of Oxford, Oxford, UK.; Hahn MG; Bayer AG, Research & Development, Pharmaceuticals, Wuppertal, Germany.; Müller T; Bayer AG, Research & Development, Pharmaceuticals, Wuppertal, Germany.; Baukrowitz T; Institute of Physiology, Faculty of Medicine, Kiel University, Kiel, Germany.; Hurles ME; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK.; Wright CF; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. caroline.wright@exeter.ac.uk.; Tucker SJ; Clarendon Laboratory, Department of Physics, University of Oxford, Oxford, UK. stephen.tucker@physics.ox.ac.uk.; Kavli Institute for Nanoscience Discovery, University of Oxford, Oxford, UK. stephen.tucker@physics.ox.ac.uk.; OXION Initiative in Ion Channels and Disease, University of Oxford, Oxford, UK. stephen.tucker@physics.ox.ac.uk.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Stephenson SEM; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.; Blok LER; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525, the Netherlands.; Silk MA; Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, University of Melbourne, Melbourne, VIC 3052, Australia; Australia Cancer Research Funding Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC 3052, Australia; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC 3004, Australia.; Nguyen TB; Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, University of Melbourne, Melbourne, VIC 3052, Australia; Australia Cancer Research Funding Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC 3052, Australia; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC 3004, Australia.; Dong X; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Alhuzaimi DE; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Dowling JJ; Division of Neurology, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Walker S; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Amburgey K; Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada; Division of Neurology, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Hayeems RZ; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States.; Schwartz MA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, United States; Cancer and Blood Disorders Center, Boston Children's Hospital, Boston, MA 02115, United States; Department of Pediatric Oncology, Dana Farber Cancer Institute, Boston, MA 02115, United States; Broad Institute of MIT and Harvard, Cambridge, MA 02115, United States.; Picker J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States; Department of Child and Adolescent Psychiatry, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States.; Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Temple Street, Rotunda, Dublin D01 XD99, Ireland.; Gupta A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, United States; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, United States.; Rasmussen KJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, United States.; Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, United States; Otolaryngology-Head and Neck Surgery (Ear, Nose, and Throat), Mayo Clinic, Rochester, MN 55905, United States; Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, United States.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, United States; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, United States; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, United States; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, United States.; Niu Z; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, United States; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, United States.; Agre KE; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, United States.; Chilton I; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, United States.; Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, United States; Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, United States.; Revah-Politi A; Institute for Genomic Medicine and Precision Genomics Laboratory, Columbia University Irving Medical Center, New York, NYk, 10032, United States.; Au PYB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.; Griffith C; Division of Pediatrics, University of South Florida, Tampa, FL 33620, United States.; Racobaldo M; Division of Pediatrics, University of South Florida, Tampa, FL 33620, United States.; Raas-Rothschild A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv-Yafo 6997801, Israel; Institute of Rare Diseases, The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel.; Ben Zeev B; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv-Yafo 6997801, Israel; Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel.; Barel O; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel.; Moutton S; Centre Pluridisciplinaire de Diagnostic PréNatal, Pôle Mère Enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, Nouvelle-Aquitaine 33401, France; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, Bourgogne-Franche-Comté 21000, France; INSERM U1231, Laboratoire de Neurosciences Cognitives, UMR 1231, Genetic of Development Anomalies, University of Burgundy, Dijon, Bourgogne-Franche-Comté 21078 France.; Morice-Picard F; Reference Center for Genetic, Complex, and Rare Skin Disorders, Department of Pediatric Dermatology, Bordeaux University Hospital, Bordeaux, Nouvelle-Aquitaine 33000, France.; Carmignac V; INSERM U1231, Laboratoire de Neurosciences Cognitives, UMR 1231, Genetic of Development Anomalies, University of Burgundy, Dijon, Bourgogne-Franche-Comté 21078 France.; Cornaton J; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, Bourgogne-Franche-Comté 21000, France.; Marle N; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle de Biologie, Centre Hospitalier Universitaire de Dijon, Dijon, Bourgogne-Franche-Comté 21000 France.; Devinsky O; Neurology Department, New York University Langone Medical Center, New York, NY 10016, United States.; Stimach C; Department of Human Genetics, Emory Healthcare, Atlanta, GA 30322, United States.; Wechsler SB; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, 30322, United States; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, 30322, United States.; Hainline BE; Indiana University School of Medicine, Indianapolis, Indiana 46202, United States; Indiana University Health Physicians, Indiana University, Indianapolis, Indiana 46202, United States.; Sapp K; Indiana University School of Medicine, Indianapolis, Indiana 46202, United States; Indiana University Health Physicians, Indiana University, Indianapolis, Indiana 46202, United States.; Willems M; Reference Center for Developmental Disorders, Department of Medical Genetics, Arnaud de Villeneuve Hospital, Montpellier University Hospital, Montpellier, Occitanie 34295, France.; Bruel AL; Inserm UMR 1231, Genetics of Developmental Anomalies, University of Bourgogne, University Hospital Federation, Translational Medicine in Development Disorders, Dijon, Bourgogne-Franche-Comté 21078, France.; Dias KR; New South Wales Health Pathology East Laboratory, Prince of Wales Private Hospital, Sydney, NSW 2031, Australia; Neuroscience Research Australia, Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales 2031, Australia.; Evans CA; New South Wales Health Pathology East Laboratory, Prince of Wales Private Hospital, Sydney, NSW 2031, Australia; Neuroscience Research Australia, Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales 2031, Australia.; Roscioli T; New South Wales Health Pathology East Laboratory, Prince of Wales Private Hospital, Sydney, NSW 2031, Australia; Neuroscience Research Australia, Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales 2031, Australia; Centre for Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales 2031, Australia.; Sachdev R; Centre for Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales 2031, Australia; School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales, Sydney, New South Wales 2052, Australia.; Temple SEL; New South Wales Health Pathology East Laboratory, Prince of Wales Private Hospital, Sydney, NSW 2031, Australia; Neuroscience Research Australia, Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales 2031, Australia; Centre for Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales 2031, Australia.; Zhu Y; New South Wales Health Pathology East Laboratory, Prince of Wales Private Hospital, Sydney, NSW 2031, Australia; Newcastle Genetics of Learning Disability Service, Hunter Genetics, Newcastle, New South Wales 2298, Australia.; Baker JJ; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States.; Scheffer IE; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC 3084, Australia.; Gardiner FJ; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC 3084, Australia.; Schneider AL; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC 3084, Australia.; Muir AM; Department of Pediatrics, University of Washington, Seattle, WA 98195, United States.; Mefford HC; Department of Pediatrics, University of Washington, Seattle, WA 98195, United States.; Crunk A; GeneDx, Gaithersburg, MD 20877, United States.; Heise EM; GeneDx, Gaithersburg, MD 20877, United States.; Millan F; GeneDx, Gaithersburg, MD 20877, United States.; Monaghan KG; GeneDx, Gaithersburg, MD 20877, United States.; Person R; GeneDx, Gaithersburg, MD 20877, United States.; Rhodes L; GeneDx, Gaithersburg, MD 20877, United States.; Richards S; GeneDx, Gaithersburg, MD 20877, United States.; Wentzensen IM; GeneDx, Gaithersburg, MD 20877, United States.; Cogné B; Medical Genetic Services, The Thorax Institute, INSERM, Centre National de la Recherche Scientifique, University Hospital of Nantes, Nantes, Pays de la Loire 44007, France.; Isidor B; Medical Genetic Services, The Thorax Institute, INSERM, Centre National de la Recherche Scientifique, University Hospital of Nantes, Nantes, Pays de la Loire 44007, France.; Nizon M; Medical Genetic Services, The Thorax Institute, INSERM, Centre National de la Recherche Scientifique, University Hospital of Nantes, Nantes, Pays de la Loire 44007, France.; Vincent M; Medical Genetic Services, The Thorax Institute, INSERM, Centre National de la Recherche Scientifique, University Hospital of Nantes, Nantes, Pays de la Loire 44007, France.; Besnard T; Medical Genetic Services, The Thorax Institute, INSERM, Centre National de la Recherche Scientifique, University Hospital of Nantes, Nantes, Pays de la Loire 44007, France.; Piton A; Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, Illkirch-Graffenstaden 67000, France; Institute of Genetics and Molecular and Cellular Biology, INSERM U964, Centre National de la Recherche Scientifique, UMR 7104, University of Strasbourg, Illkirch-Graffenstaden, Grand Est 67400, France.; Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525, the Netherlands.; Kato K; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Chubu 467-8601, Japan; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Chubu 464-860, Japan.; Koyama N; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Chubu 441-8570, Japan.; Ogi T; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Chubu 464-860, Japan; Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, Chubu 467-8601, Japan.; Goh ES; Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON L5B 1B8, Canada.; Richmond C; Victorian Clinical Genetics Services, Melbourne, VIC 3052, Australia.; Amor DJ; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Melbourne, VIC 3052, Australia.; Boyce JO; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Morgan AT; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Hildebrand MS; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC 3084, Australia.; Kaspi A; Population Health and Immunity Division, The Walter and Eliza Hall Institute for Medical Research, Melbourne, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.; Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute for Medical Research, Melbourne, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.; Friðriksdóttir R; deCODE Genetics, Amgen, Reykjavik 101, Iceland.; Katrínardóttir H; deCODE Genetics, Amgen, Reykjavik 101, Iceland.; Sulem P; deCODE Genetics, Amgen, Reykjavik 101, Iceland.; Stefánsson K; deCODE Genetics, Amgen, Reykjavik 101, Iceland; Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.; Björnsson HT; Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland; Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik 101, Iceland; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21218, United States.; Mandelstam S; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Department of Medical Imaging, The Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Morleo M; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples 80138, Italy.; Mariani M; Department of Pediatrics, Azienda Socio Sanitaria Territoriale, Lariana Sant'Anna Hospital, San Fermo Della Battaglia, Como 22042, Italy.; Scala M; Department of Neurosciences, Rehabilitation, Opthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Liguria 16126, Italy; Istituto di Ricovero e Cura a Carattere Scientifico Giannina Gaslini Institute, Genoa, Liguria 16147, Italy.; Accogli A; Department of Neurosciences, Rehabilitation, Opthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Liguria 16126, Italy; Istituto di Ricovero e Cura a Carattere Scientifico Giannina Gaslini Institute, Genoa, Liguria 16147, Italy.; Torella A; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy.; Capra V; Istituto di Ricovero e Cura a Carattere Scientifico Giannina Gaslini Institute, Genoa, Liguria 16147, Italy.; Wallis M; Tasmanian Clinical Genetics Services, Royal Hobart Hospital, Hobart, Tasmania 7000, Australia.; Jansen S; Department of Human Genetics, Amsterdam University Medical Centers, Vrije Universiteit Medical Center Amsterdam, Amsterdam, the Netherlands.; Weisfisz Q; Department of Human Genetics, Amsterdam University Medical Centers, Vrije Universiteit Medical Center Amsterdam, Amsterdam, the Netherlands.; de Haan H; Department of Human Genetics, Amsterdam University Medical Centers, Vrije Universiteit Medical Center Amsterdam, Amsterdam, the Netherlands.; Sadedin S; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Melbourne, VIC 3052, Australia.; Lim SC; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Melbourne, VIC 3052, Australia.; White SM; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Melbourne, VIC 3052, Australia.; Ascher DB; Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, University of Melbourne, Melbourne, VIC 3052, Australia; Australia Cancer Research Funding Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC 3052, Australia; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC 3004, Australia; Department of Biochemistry, University of Cambridge, Cambridge, England CB2 1GA, United Kingdom.; Schenck A; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525, the Netherlands.; Lockhart PJ; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Christodoulou J; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Melbourne, VIC 3052, Australia.; Tan TY; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Melbourne, VIC 3052, Australia. Electronic address: tiong.tan@vcgs.org.au.

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

Klee EW; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.; Cousin MA; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Pinto E Vairo F; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Morales-Rosado JA; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Macke EL; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Jenkinson WG; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Ferrer A; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Schultz-Rogers LE; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Olson RJ; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Oliver GR; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Sigafoos AN; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.; Schwab TL; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.; Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.; Urrutia RA; Division of Research, Department of Surgery and the Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.; Kaiwar C; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, USA.; Gupta A; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Blackburn PR; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Boczek NJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Prochnow CA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Lowy RJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Mulvihill LA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; McAllister TM; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Aoudia SL; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Kruisselbrink TM; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Gunderson LB; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Kemppainen JL; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Fisher LJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Tarnowski JM; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Hager MM; Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA.; Kroc SA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Bertsch NL; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Agre KE; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Jackson JL; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.; Macklin-Mantia SK; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.; Murphree MI; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Rust LM; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Summer Bolster JM; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Beck SA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Atwal PS; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA.; Ellingson MS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Barnett SS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Rasmussen KJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Lahner CA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Niu Z; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Ferber MJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Marcou CA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Clark KJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.; Pichurin PN; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Deyle DR; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Morava-Kozicz E; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Gavrilova RH; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Dhamija R; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, USA.; Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA.; Wierenga KJ; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA.; Lanpher BC; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Babovic-Vuksanovic D; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Farrugia G; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Division of Gastroenterology and Hepatology, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Schimmenti LA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Stewart AK; Princess Margaret Cancer Centre, Toronto, ON, Canada.; Lazaridis KN; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA. Lazaridis.Konstantinos@mayo.edu.; Division of Gastroenterology and Hepatology, College of Medicine, Mayo Clinic, Rochester, MN, USA. Lazaridis.Konstantinos@mayo.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

Fliedner A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Kirchner P; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Wiesener A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; van de Beek I; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, the Netherlands.; Waisfisz Q; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, the Netherlands.; van Haelst M; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, the Netherlands.; Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.; Azamian MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.; Dutra-Clarke M; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA.; Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA.; Lee H; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA.; Noh GJ; Department of Genetics, Southern California Permanente Medical Group, Fontana, CA 92335, USA.; Lippa N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY 10019, USA.; Alkelai A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY 10019, USA.; Aggarwal V; Institute for Genomic Medicine and Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY 10019, USA.; Agre KE; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Gavrilova R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.; Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98195, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.; Straussberg R; Neurogenetics Clinic, Neurology Unit, Schneider Children's Medical Center, Petah Tikva 49202, Israel; Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv 69978, Israel.; Cohen R; Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv 69978, Israel; Neurology Institute and Epilepsy Center, Schneider Children's Medical Center, Petah Tikva 49202, Israel.; Horist B; Pediatrics and Genetics, Alpharetta, GA 30005, USA.; Krishnamurthy V; Pediatrics and Genetics, Alpharetta, GA 30005, USA.; McWalter K; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.; Juusola J; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.; Davis-Keppen L; University of South Dakota, Sanford School of Medicine, Sioux Falls, SD 57105, USA.; Ohden L; University of South Dakota, Sanford School of Medicine, Sioux Falls, SD 57105, USA.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, the Netherlands.; de Man SA; Department of Pediatrics, Amphia Hospital, 4818 CK Breda, the Netherlands.; Ekici AB; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Gregor A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; van de Laar I; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, the Netherlands.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany. Electronic address: christiane.zweier@uk-erlangen.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

Rosenbaum AN; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.; Agre KE; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Pereira NL; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA. pereira.naveen@mayo.edu.; William J. von Liebig Center for Transplantation and Clinical Regeneration, Mayo Clinic, Rochester, MN, USA. pereira.naveen@mayo.edu.; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA. pereira.naveen@mayo.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101500075 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1759-5010 (Electronic) Linking ISSN: 17595002 NLM ISO Abbreviation: Nat Rev Cardiol Subsets: MEDLINE

Gupta A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, 55905, USA.; Dsouza NR; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, 72202, USA.; Lombardo R; Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA.; Hopkin R; Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA.; Linehan AR; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; Simpson J; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; McCarrier J; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; Agre KE; Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.; Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA; Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.; Stephens MC; Pediatric Gastroenterology, Mayo Clinic, Rochester, MN, 55905, USA.; Grothe RM; Pediatric Gastroenterology, Mayo Clinic, Rochester, MN, 55905, USA.; Monaghan KG; GeneDx, Gaithersburg, MD, 20877, USA.; Xie Y; GeneDx, Gaithersburg, MD, 20877, USA.; Basel D; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; Urrutia RA; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA; Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; Cole CR; Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, 45267, USA.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, 55905, USA; Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA. Electronic address: klee.eric@mayo.edu.; Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA. Electronic address: mtzimmermann@mcw.edu.

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

Yan K; Rosalind and Morris Goodman Cancer Research Center, McGill University, Montreal, Quebec H3A 1A3, Canada.; Department of Medicine, McGill University, Montreal, Quebec H3A 1A3, Canada.; Rousseau J; Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Quebec H3T 1C5, Canada.; Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.; Texas Children's Hospital, 6701 Fannin Street, Houston, TX 77030, USA.; Cross LA; Center for Pediatric Genomic Medicine and Department of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Agre KE; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Gibson CF; Trillium Health Partners, Credit Valley Hospital, Genetics Program, 2200 Eglinton Ave. W, Mississauga, Ontario L5M 2N1, Canada.; Goverde A; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Engleman KL; Center for Pediatric Genomic Medicine and Department of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Verdin H; Center for Medical Genetics, Ghent University and Ghent University Hospital, C. Heymanslaan 10, B-9000 Ghent, Belgium.; De Baere E; Center for Medical Genetics, Ghent University and Ghent University Hospital, C. Heymanslaan 10, B-9000 Ghent, Belgium.; Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.; Texas Children's Hospital, 6701 Fannin Street, Houston, TX 77030, USA.; Zhou D; Center for Pediatric Genomic Medicine and Department of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Cadieux-Dion M; Center for Pediatric Genomic Medicine and Department of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Bellus GA; Clinical Genetics and Genomic Medicine, Geisinger, 100 N. Academy Ave., Danville, PA 17822, USA.; Wagner MD; Autism and Developmental Medicine Institute, Geisinger, 120 Hamm Dr., Lewisburg, PA 17837, USA.; Hale RJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Esber N; KAT6A Foundation, 3 Louise Dr., West Nyack, NY 10994, USA.; Riley AF; Texas Children's Hospital, 6651 Main Street Legacy Tower, 21st Floor Houston, TX 77030, USA.; Solomon BD; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Cho MT; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Eyal R; Kaiser Oakland Medical Center 3600 Broadway, Oakland, CA 94611, USA.; Hainlen MK; Center for Pediatric Genomic Medicine and Department of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Mendelsohn BA; Kaiser Oakland Medical Center 3600 Broadway, Oakland, CA 94611, USA.; Porter HM; Department of Genetics and Metabolism, Rare Disease Institute, Children's National Hospital, 111 Michigan Avenue NW, Washington, DC 20010, USA.; Lanpher BC; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.; Texas Children's Hospital, 6701 Fannin Street, Houston, TX 77030, USA.; Savatt J; Autism and Developmental Medicine Institute, Geisinger, 120 Hamm Dr., Lewisburg, PA 17837, USA.; Thiffault I; Center for Pediatric Genomic Medicine and Department of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Faculty of Medicine, University of Missouri Kansas City, Kansas City, MO 64110, USA.; Callewaert B; Center for Medical Genetics, Ghent University and Ghent University Hospital, C. Heymanslaan 10, B-9000 Ghent, Belgium.; Campeau PM; Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Quebec H3T 1C5, Canada.; Yang XJ; Rosalind and Morris Goodman Cancer Research Center, McGill University, Montreal, Quebec H3A 1A3, Canada.; Department of Medicine, McGill University, Montreal, Quebec H3A 1A3, Canada.; Department of Biochemistry, McGill University, Montreal, Quebec H3A 1A3, Canada.; McGill University Health Center, Montreal, Quebec H3A 1A3, Canada.

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