부산대학교 도서관

Ercan, Ayse Bahar ; Aronson, Melyssa ; Fernandez, Nicholas R ; Chang, Yuan ; Levine, Adrian ; Liu, Zhihui Amy ; Negm, Logine ; Edwards, Melissa ; Bianchi, Vanessa ; Stengs, Lucie ; Chung, Jiil ; Al-Battashi, Abeer ; Reschke, Agnes ; Lion, Alex ; Ahmad, Alia ; Lassaletta, Alvaro ; Reddy, Alyssa T ; Al-Darraji, Amir F ; Shah, Amish C ; Van Damme, An ; Bendel, Anne ; Rashid, Aqeela ; Margol, Ashley S ; Kelly, Bethany L ; Pencheva, Bojana ; Heald, Brandie ; Lemieux-Anglin, Brianna ; Crooks, Bruce ; Koschmann, Carl ; Gilpin, Catherine ; Porter, Christopher C ; Gass, David ; Samuel, David ; Ziegler, David S ; Blumenthal, Deborah T ; Kuo, Dennis John ; Hamideh, Dima ; Basel, Donald ; Khuong-Quang, Dong-Anh ; Stearns, Duncan ; Opocher, Enrico ; Carceller, Fernando ; Baris Feldman, Hagit ; Toledano, Helen ; Winer, Ira ; Scheers, Isabelle ; Fedorakova, Ivana ; Su, Jack M ; Vengoechea, Jaime ; Sterba, Jaroslav ; Knipstein, Jeffrey ; Hansford, Jordan R ; Gonzales-Santos, Julieta Rita ; Bhatia, Kanika ; Bielamowicz, Kevin J ; Minhas, Khurram ; Nichols, Kim E ; Cole, Kristina A ; Penney, Lynette ; Hjort, Magnus Aasved ; Sabel, Magnus ; Gil-da-Costa, Maria Joao ; Murray, Matthew J ; Miller, Matthew ; Blundell, Maude L ; Massimino, Maura ; Al-Hussaini, Maysa ; Al-Jadiry, Mazin F ; Comito, Melanie A ; Osborn, Michael ; Link, Michael P ; Zapotocky, Michal ; Ghalibafian, Mithra ; Shaheen, Najma ; Mushtaq, Naureen ; Waespe, Nicolas ; Hijiya, Nobuko ; Fuentes-Bolanos, Noemi ; Ahmad, Olfat ; Chamdine, Omar ; Roy, Paromita ; Pichurin, Pavel N ; Nyman, Per ; Pearlman, Rachel ; Auer, Rebecca C ; Sukumaran, Reghu K ; Kebudi, Rejin ; Dvir, Rina ; Raphael, Robert ; Elhasid, Ronit ; McGee, Rose B ; Chami, Rose ; Noss, Ryan ; Tanaka, Ryuma ; Raskin, Salmo ; Sen, Santanu ; Lindhorst, Scott ; Perreault, Sebastien ; Caspi, Shani ; Riaz, Shazia ; Constantini, Shlomi ; Albert, Sophie ; Chaleff, Stanley ; Bielack, Stefan ; Chiaravalli, Stefano ; Cramer, Stuart Louis ; Roy, Sumita ; Cahn, Suzanne ; Penna, Suzanne ; Hamid, Syed Ahmer ; Ghafoor, Tariq ; Imam, Uzma ; Larouche, Valerie ; Magimairajan Issai, Vanan ; Foulkes, William D ; Lee, Yi Yen ; Nathan, Paul C ; Maruvka, Yosef E ; Greer, Mary-Louise C ; Durno, Carol ; Shlien, Adam ; Ertl-Wagner, Birgit ; Villani, Anita ; Malkin, David ; Hawkins, Cynthia ; Bouffet, Eric ; Das, Anirban ; Tabori, Uri

In The Lancet Oncology May 2024 25(5):668-682

Wan R; Division of Plastic Surgery, Department of Surgery, Mayo Clinic, Rochester, MN, USA.; Adam EA; Department of Orthopedic Surgery, Mayo Clinic, Rochester, MN, USA.; Jabs EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Pediatrics, Mayo Clinic, Rochester, MN, USA.; Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Mardini S; Division of Plastic Surgery, Department of Surgery, Mayo Clinic, Rochester, MN, USA.; Gibreel W; Division of Plastic Surgery, Department of Surgery, Mayo Clinic, Rochester, MN, USA.

Publisher: SAGE Publications in Association with American Cleft Palate-Craniofacial Association Country of Publication: United States NLM ID: 9102566 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-1569 (Electronic) Linking ISSN: 10556656 NLM ISO Abbreviation: Cleft Palate Craniofac J Subsets: MEDLINE

Pinto E Vairo F; Center for Individualized Medicine (F.P.e.V., K.J.C., E.W.K.), Mayo Clinic, Rochester, MN.; Department of Clinical Genomics (F.P.e.V., L.L., P.N.P., E.W.K.), Mayo Clinic, Rochester, MN.; Geske JB; Department of Cardiovascular Medicine (J.B.G., K.C.S., N.L.P.), Mayo Clinic, Rochester, MN.; Singh RJ; Immunochemical Core Laboratory (R.J.S., R.B.D.), Mayo Clinic, Rochester, MN.; Dyer RB; Immunochemical Core Laboratory (R.J.S., R.B.D.), Mayo Clinic, Rochester, MN.; Siontis KC; Department of Cardiovascular Medicine (J.B.G., K.C.S., N.L.P.), Mayo Clinic, Rochester, MN.; O'Connell M; Department of Biochemistry and Molecular Biology (M.O.C., C.S., L.L.), Mayo Clinic, Rochester, MN.; Schmitz C; Department of Biochemistry and Molecular Biology (M.O.C., C.S., L.L.), Mayo Clinic, Rochester, MN.; Lambert L; Department of Clinical Genomics (F.P.e.V., L.L., P.N.P., E.W.K.), Mayo Clinic, Rochester, MN.; Department of Biochemistry and Molecular Biology (M.O.C., C.S., L.L.), Mayo Clinic, Rochester, MN.; Department of Physiology and Biomedical Engineering (L.L.), Mayo Clinic, Rochester, MN.; Clark KJ; Center for Individualized Medicine (F.P.e.V., K.J.C., E.W.K.), Mayo Clinic, Rochester, MN.; Department of Animal Science, Texas A&M University, College Station (K.J.C.).; Raymond KM; Department of Laboratory Medicine and Pathology (K.M.R, J.J.M., E.W.K.), Mayo Clinic, Rochester, MN.; Maleszewski JJ; Department of Laboratory Medicine and Pathology (K.M.R, J.J.M., E.W.K.), Mayo Clinic, Rochester, MN.; Wood T; Children's Hospital Colorado, Anschutz Medical Campus, Aurora (T.W.).; Pichurin PN; Department of Clinical Genomics (F.P.e.V., L.L., P.N.P., E.W.K.), Mayo Clinic, Rochester, MN.; Klee EW; Center for Individualized Medicine (F.P.e.V., K.J.C., E.W.K.), Mayo Clinic, Rochester, MN.; Department of Clinical Genomics (F.P.e.V., L.L., P.N.P., E.W.K.), Mayo Clinic, Rochester, MN.; Department of Laboratory Medicine and Pathology (K.M.R, J.J.M., E.W.K.), Mayo Clinic, Rochester, MN.; Pereira NL; Department of Cardiovascular Medicine (J.B.G., K.C.S., N.L.P.), Mayo Clinic, Rochester, MN.; and Department of Molecular Pharmacology and Experimental Therapeutics (N.L.P.), Mayo Clinic, Rochester, MN.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101479941 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1941-3297 (Electronic) Linking ISSN: 19413289 NLM ISO Abbreviation: Circ Heart Fail Subsets: MEDLINE; In Process

Ferrer A; Division of Hematology, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Duffy P; Bioinformatics Systems, Information Technology, Mayo Clinic, Rochester, MN, USA.; Olson RJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Meiners MA; Bioinformatics Systems, Information Technology, Mayo Clinic, Rochester, MN, USA.; Schultz-Rogers L; Department of Pathology and Lab Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Macke EL; The Institute of Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Safgren S; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Morales-Rosado JA; Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.; Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Oliver GR; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Rider D; Bioinformatics Systems, Information Technology, Mayo Clinic, Rochester, MN, USA.; Williams M; Bioinformatics Systems, Information Technology, Mayo Clinic, Rochester, MN, USA.; Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Deyle DR; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Gavrilova RH; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Dhamija R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Wierenga KJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Lanpher BC; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Babovic-Vuksanovic D; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Kaiwar C; Children's Hospital Colorado, Aurora, CO, USA.; Vitek CR; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; McAllister TM; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Wick MJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Schimmenti LA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Departments of Otorhinolaryngology, Head and Neck Surgery, Ophthalmology, and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.; Lazaridis KN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, USA.; Vairo FPE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. Klee.Eric@mayo.edu.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. Klee.Eric@mayo.edu.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Neth BJ; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.; Webb MJ; Department of Medical Oncology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.; White J; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.; Uhm JH; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.; Department of Medical Oncology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.; Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.; Sener U; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA. Sener.Ugur@mayo.edu.; Department of Medical Oncology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA. Sener.Ugur@mayo.edu.

Publisher: Springer Country of Publication: United States NLM ID: 8309335 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7373 (Electronic) Linking ISSN: 0167594X NLM ISO Abbreviation: J Neurooncol Subsets: MEDLINE

Kaur, Ravinder Jeet; Pichurin, Pavel N; Hines, Jolaine M; Singh, Ravinder J; Grebe, Stefan K; Bancos, Irina

Journal of the Endocrine Society; Apr2019, Vol. 3 Issue 4, p784-790, 7p

Bandel LA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Vierkant RA; Department of Quantitative Health Sciences, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Kruisselbrink TM; Helix Inc, San Mateo, CA, USA.; Bublitz ML; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Wilson TA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Armasu SM; Department of Quantitative Health Sciences, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Egan JB; Center for Individualized Medicine, College of Medicine and Science, Mayo Clinic, Scottsdale, AZ, USA.; Presutti RJ; Family Medicine, College of Medicine and Science, College of Medicine, Mayo Clinic, Jacksonville, FL, USA.; Samadder NJJ; Center for Individualized Medicine, College of Medicine and Science, Mayo Clinic, Scottsdale, AZ, USA.; Sekulic A; Translational Genomics Research Institute, Phoenix, AZ, USA; City of Hope, Goodyear, Arizona, Goodyear, AZ.; Olson RJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Tan-Arroyo J; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Morales-Rosado JA; Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.; Klee EW; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Ferber MJ; Helix Inc, San Mateo, CA, USA.; Kemppainen JL; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Anderson JL; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Bidwell JS; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Wick JJ; Center for Clinical and Translational Science, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Ortega VE; Center for Individualized Medicine, College of Medicine and Science, Mayo Clinic, Scottsdale, AZ, USA.; Bobo WV; Department of Psychiatry and Psychology, College of Medicine, Mayo Clinic, Jacksonville, FL, USA.; Pichurin PN; Clinical Genomics, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Mcmillan JM; College of Medicine and Science, and Clinical Genomics, College of Medicine, Mayo Clinic, Jacksonville, FL, USA.; Weaver DM; Departments of Hematology, Oncology, and Clinical Genomics, Mayo Clinic, Phoenix, AZ, USA.; Riegert-Johnson DL; Division of Gastroenterology and Hepatology, College of Medicine, Mayo Clinic, Jacksonville, FL, USA.; Cera AM; Clinical Genomics, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Boucher LM; Clinical Genomics, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Kullo IJ; Department of Cardiology, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Mantia SK; College of Medicine and Science, and Clinical Genomics, College of Medicine, Mayo Clinic, Jacksonville, FL, USA.; Jones MT; Department of Quantitative Health Sciences, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Larson NB; Department of Quantitative Health Sciences, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Luehrs TC; Department of Quantitative Health Sciences, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Leitzke JW; Department of Quantitative Health Sciences, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Sicotte H; Department of Quantitative Health Sciences, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Tian S; Department of Quantitative Health Sciences, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Stavlund JR; Research Administrative Services, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Pacyna JE; Biomedical Ethics Research Program, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Sharp RR; Biomedical Ethics Research Program, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Asabere AA; Helix Inc, San Mateo, CA, USA.; Lu J; Helix Inc, San Mateo, CA, USA.; McAllister TM; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Walker TS; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Stewart AK; Princess Margaret Cancer Centre, Toronto, Ontario, Canada.; Farrugia G; Gastroenterology and Hepatology/Physiology and Biomedical Engineering, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Lazaridis KN; 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. Electronic address: Lazaridis.Konstantinos@mayo.edu.

Publisher: [Oxford, England] Country of Publication: England NLM ID: 0405543 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1942-5546 (Electronic) Linking ISSN: 00256196 NLM ISO Abbreviation: Mayo Clin Proc Subsets: MEDLINE

Blackburn PR; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.; Ebstein F; Institute of Medical Biochemistry and Molecular Biology, University Medicine Greifswald, Greifswald, Germany.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Hsieh TC; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.; Motta M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Herkert JC; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Rinne T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, MO, USA.; Rapp M; Department of Pediatrics-Clinical Genetics and Metabolism, Children's Hospital Colorado, Aurora, CO, USA.; Alders M; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam, The Netherlands.; Maas S; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam, The Netherlands.; Gerard B; Unité de Biologie et de Génétique Moléculaire, Center Hospitalier Universitaire de Strasbourg, Strasbourg, France.; Smol T; Univ Lille, CHU Lille, RADEME Team, Institut de Génétique Médicale, Lille, France.; Vincent-Delorme C; Department of Clinical Genetics, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.; Cogné B; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France.; Isidor B; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France.; Vincent M; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France.; Bachmann-Gagescu R; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Department of Molecular Life Sciences, University of Zurich, Zurich, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.; Ferrero GB; Department of Clinical and Biological Sciences, San Luigi Gonzaga University Hospital, University of Torino, Turin, Italy.; Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Husson T; Department of Research, Center Hospitalier du Rouvray, Rouen, France.; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France.; Guerrot AM; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France.; Bacino C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Macmurdo C; Division of Medical Genetics, Department of Internal Medicine, Baylor Scott and White Medical Center, Temple, TX, USA.; Thompson SS; Division of Medical Genetics, Department of Internal Medicine, Baylor Scott and White Medical Center, Temple, TX, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.; Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD CHU, Dijon, France.; INSERM UMR1231, équipe GAD, Université de Bourgogne-Franche Comté, Dijon, France.; Mau-Them FT; INSERM UMR1231, équipe GAD, Université de Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Deb W; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France.; Vignard V; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France.; Agrawal PB; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston, MA, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, USA.; Madden JA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston, MA, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, USA.; Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France.; Lecoquierre F; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France.; Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany.; Prokisch H; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany.; Necpál J; Department of Neurology, Zvolen Hospital, Zvolen, Slovakia.; Department of Neurology, Faculty of Medicine, Comenius University, Bratislava, Slovakia.; Jech R; Department of Neurology, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic.; Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum Muenchen, Neuherberg, Germany.; Neurogenetics, Technische Universitaet Muenchen, Munich, Germany.; Institute of Human Genetics, Klinikum rechts der Isar der TUM, Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Koprušáková MT; Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, Martin, Slovakia.; Konstantopoulou V; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Younce JR; Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Shinawi M; Division of Genetics and Genomic Medicine, St. Louis Children's Hospital, St. Louis, MO, USA.; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.; Mighton C; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada.; Genomics Health Services and Policy Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Canada.; Fung C; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Sinai Health System, Toronto, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Canada.; Morel CF; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Sinai Health System, Toronto, Canada.; Department of Medicine, University of Toronto, Toronto, Canada.; Lerner-Ellis J; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.; DiTroia S; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Barth M; Department of Biochemistry and Genetics, University Hospital of Angers, Angers, France.; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, Angers, France.; Bonneau D; Department of Biochemistry and Genetics, University Hospital of Angers, Angers, France.; Krapels I; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht UMC, Maastricht, The Netherlands.; Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht UMC, Maastricht, The Netherlands.; van der Schoot V; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht UMC, Maastricht, The Netherlands.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU-University of Munich, Munich, Germany.; Bußmann C; Department of Neuropediatrics, ATOS Klinik Heidelberg, Heidelberg, Germany.; Mignot C; Département de Génétique, AP-HP-Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Dipartimento di Scienze Della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy.; Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Mayr JA; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Feichtinger RG; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Courtin T; Center for Molecular and Chromosomal Genetics, AP-HP-Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France.; Ravelli C; Department of Pediatric Neurology and Neurogenetic Referral Center, AP-HP-Sorbonne Université, Armand Trousseau Hospital, Paris, France.; Keren B; Département de Génétique, AP-HP-Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; Ziegler A; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, Angers, France.; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS, Angers, France.; Hasadsri L; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Grand K; Department of Pediatrics, Guerin Children's at Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Sanchez-Lara PA; Department of Pediatrics, Guerin Children's at Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Krüger E; Institute of Medical Biochemistry and Molecular Biology, University Medicine Greifswald, Greifswald, Germany.; Bézieau S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France.; Klinkhammer H; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.; Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany.; Krawitz PM; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.; Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Küry S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France.; Wang T; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China.; Neuroscience Research Institute, Peking University, Beijing, China.; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.; Autism Research Center, Peking University Health Science Center, Beijing, China.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Sheppard SE; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Campbell IM; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Harr MH; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Gold N; Mass General Hospital for Children, Division of Medical Genetics and Metabolism and Harvard Medical School, Boston, Massachusetts, USA.; Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Bjornsson HT; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; Landspitali University Hospital, Iceland.; Cohen JS; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Fahrner JA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland, USA.; Fatemi A; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Harris JR; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Nowak C; Division of Genetics and Genomics, Boston Children's Hospital, The Feingold Center for Children, Boston, Massachusetts, USA.; Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.; Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.; Au M; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.; Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.; Sanchez-Lara PA; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.; Campo MD; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA.; Jones MC; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA.; Abdul-Rahman O; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, New York, USA.; Bergstrom K; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, New York, USA.; Bhoj E; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Dugan S; Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA.; Kaplan JD; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Derar N; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Gripp KW; Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.; Hauser N; Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA.; Innes AM; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.; Keena B; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Kodra N; Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA.; Miller R; Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA.; Nelson B; Department of Clinical Skills, St. George's University, True Blue, Grenada.; Nowaczyk MJ; McMaster University, Hamilton, Canada.; Rahbeeni Z; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Ben-Shachar S; Genetic Institute, Tel-Aviv Medical Center, affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Shieh JT; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Slavotinek A; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Sobering AK; Department of Biochemistry, St. George's University, True Blue, Grenada.; Abbott MA; Medical Genetics, Department of Pediatrics, University of Massachusetts Medical School - Baystate, Springfield, Massachusetts, USA.; Allain DC; Division of Human Genetics, Department of Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio, USA.; Amlie-Wolf L; Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.; Au PYB; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.; Bedoukian E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Beek G; Children's Hospital of Minnesota, Minneapolis, Minnesota, USA.; Barry J; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA.; Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, Texas, USA.; Berg J; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA.; Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, Texas, USA.; Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.; Cytrynbaum C; Division of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Chung BH; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR.; Donoghue S; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Dorrani N; Department of Pediatrics, University of California Los Angeles, California, Los Angeles, USA.; UCLA Clinical Genomics Center, University of California Los Angeles, California, Los Angeles, USA.; Eaton A; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.; Flores-Daboub JA; Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA.; Dubbs H; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Felix CA; Division of Oncology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Fong CT; Department of Pediatrics, Division of Genetics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.; Fung JLF; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR.; Gangaram B; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Goldstein A; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Greenberg R; Genetic Institute, Tel-Aviv Medical Center, affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Ha TK; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Hersh J; Weisskopf Child Evaluation Center, Department of Pediatrics, University of Louisville, Louisville, Kentucky, USA.; Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Kallish S; Division of Translational Medicine and Human Genetics Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Kravets E; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.; Kwok PY; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Jobling RK; Division of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Knight Johnson AE; Department of Human Genetics, University of Chicago, Chicago, Illinois, USA.; Kushner J; Molecular and Medical  Genetics, Oregon Health and Science University, Portland, Oregon, USA.; Lee BH; Department of Neurology, Division of Child Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.; Levin B; MD Anderson Cancer Center at Cooper, Cooper University Health Care, Camden, New Jersey, USA.; Lindstrom K; Phoenix Children's Hospital, Phoenix, Arizona, USA.; Manickam K; Division of Human Genetics, Department of Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio, USA.; Mardach R; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA.; McCormick E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; McLeod DR; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Mentch FD; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Minks K; Department of Neurology, Division of Child Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.; Muraresku C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Nelson SF; UCLA Clinical Genomics Center, University of California Los Angeles, California, Los Angeles, USA.; Department of Human Genetics, Center for Duchenne Muscular Dystrophy University of California Los Angeles, California, Los Angeles, USA.; Porazzi P; Department of Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Pichurin PN; Clinical Genomics Center, University of California Los Angeles, Los Angeles, California, USA.; Powell-Hamilton NN; Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.; Powis Z; Quest Diagnostics Kalamzoo, Kalamzoo, Michigan, USA.; Ritter A; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Rogers C; Molecular and Medical  Genetics, Oregon Health and Science University, Portland, Oregon, USA.; Rohena L; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA.; Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, Texas, USA.; Ronspies C; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Schroeder A; Department of Pediatrics, Division of Genetics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Starr L; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Stoler J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Suwannarat P; Mid-Atlantic Permanente Medical Group, Rockville, Maryland, USA.; Velinov M; NYS Institute for Basic Research in developmental Disabilities, Staten Island, New York, USA.; Weksberg R; Division of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Wilnai Y; Genetic Institute, Sourasky Medical Center, Te-Aviv, Tel Aviv, Israel.; Zadeh N; Genetics Center and CHOC Children's Hospital, Orange, California, USA.; Zand DJ; Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia, USA.; Falk MJ; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Zackai EH; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Quintero-Rivera F; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR.; Department of Pathology and Laboratory Medicine, University of California Los Angeles, California, Los Angeles, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Pichurin PN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Fervenza FC; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, 200 First St SW, Rochester, MN, 55905, USA.; Nasr SH; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Mills K; UCL Institute of Child Health, Great Ormond Street Hospital, London, UK.; Schmitz CT; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Herrmann SM; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, 200 First St SW, Rochester, MN, 55905, USA. Herrmann.sandra@mayo.edu.

Publisher: BioMed Central Country of Publication: England NLM ID: 100967793 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2369 (Electronic) Linking ISSN: 14712369 NLM ISO Abbreviation: BMC Nephrol Subsets: MEDLINE

Blackburn PR; Ebstein F; Hsieh TC; Motta M; Radio FC; Herkert JC; Rinne T; Thiffault I; Rapp M; Alders M; Maas S; Gerard B; Smol T; Vincent-Delorme C; Cogné B; Isidor B; Vincent M; Bachmann-Gagescu R; Rauch A; Joset P; Ferrero GB; Ciolfi A; Husson T; Guerrot AM; Bacino C; Macmurdo C; Thompson SS; Rosenfeld JA; Faivre L; Mau-Them FT; Deb W; Vignard V; Agrawal PB; Madden JA; Goldenberg A; Lecoquierre F; Zech M; Prokisch H; Necpál J; Jech R; Winkelmann J; Koprušáková MT; Konstantopoulou V; Younce JR; Shinawi M; Mighton C; Fung C; Morel C; Ellis JL; DiTroia S; Barth M; Bonneau D; Krapels I; Stegmann S; van der Schoot V; Brunet T; Bußmann C; Mignot C; Courtin T; Ravelli C; Keren B; Ziegler A; Hasadsri L; Pichurin PN; Klee EW; Grand K; Sanchez-Lara PA; Krüger E; Bézieau S; Klinkhammer H; Krawitz PM; Eichler EE; Tartaglia M; Küry S; Wang T

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

Nicola P; University Hospital of South Manchester NHS Foundation Trust, Manchester, United Kingdom.; Manchester Centre for Genomic Medicine, Manchester, United Kingdom.; Blackburn PR; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Rasmussen KJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Bertsch NL; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.; Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.; Rankin J; Clinical Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Raymond FL; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.; Clayton-Smith J; Manchester Centre for Genomic Medicine, Manchester, United Kingdom.; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

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

Blackburn PR; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.; Department of Health Sciences Research, Rochester, Minnesota.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Chacon-Camacho OF; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Ortiz-González XR; Department of Pediatrics, Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Reyes M; Department of Genetics, Hospital 'Dr. Luis Sánchez Bulnes', Asociación para Evitar la Ceguera en México, Mexico City, Mexico.; Lopez-Uriarte GA; Genetics Department, University Hospital 'Dr. José Eleuterio González' and Medical School, Universidad Autónoma de Nuevo León, Monterrey, Mexico.; Zarei S; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Department of Anatomic Pathology, Mayo Clinic, Rochester, Minnesota.; Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Perez-Solorzano S; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Vaubel RA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Department of Anatomic Pathology, Mayo Clinic, Rochester, Minnesota.; Murphree MI; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.; Nava J; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Cortes-Gonzalez V; Department of Genetics, Hospital 'Dr. Luis Sánchez Bulnes', Asociación para Evitar la Ceguera en México, Mexico City, Mexico.; Parisi JE; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Department of Neurology, Mayo Clinic, Rochester, Minnesota.; Villanueva-Mendoza C; Department of Genetics, Hospital 'Dr. Luis Sánchez Bulnes', Asociación para Evitar la Ceguera en México, Mexico City, Mexico.; Tirado-Torres IG; Genetics Department, University Hospital 'Dr. José Eleuterio González' and Medical School, Universidad Autónoma de Nuevo León, Monterrey, Mexico.; Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.; Department of Health Sciences Research, Rochester, Minnesota.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.; Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.; Zenteno JC; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Smith MJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Sigafoos AN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.; Jin JJ; Department of Allergy and Immunology, Mayo Clinic, Rochester, MN, USA.; Murphree MI; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Boczek NJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Oliver GR; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Aleff RA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.; Medical Genome Facility, Mayo Clinic, Rochester, MN, USA.; Clark KJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.; Wieben ED; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.; Medical Genome Facility, Mayo Clinic, Rochester, MN, USA.; Joshi AY; Department of Pediatrics, Mayo Clinic, Rochester, MN, USA.; Pichurin PN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Abraham RS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. roshsa@protonmail.com.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. Klee.eric@mayo.edu.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA. Klee.eric@mayo.edu.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. Klee.eric@mayo.edu.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. Klee.eric@mayo.edu.

Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol

Marafi D; Department of Pediatrics, Faculty of Medicine, Kuwait University, P.O. Box 24923, Safat 13110, Kuwait; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Kozar N; Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, UK.; Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Bradley S; Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, UK.; Yokochi K; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi 441-8570, Japan; Department of Pediatrics, Seirei Mikatahara General Hospital, Shizuoka 433-8558, Japan.; Al Mutairi F; Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, P.O. Box 22490, Riyadh 11426, Kingdom of Saudi Arabia; King Abdullah International Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.; Saadi NW; College of Medicine, University of Baghdad, Baghdad 10001, Iraq; Children Welfare Teaching Hospital, Medical City Complex, Baghdad 10001, Iraq.; Whalen S; UF de Génétique Clinique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs, APHP, Sorbonne Université, Hôpital Trousseau, 75005 Paris, France.; Brunet T; Institute of Human Genetics, Faculty of Medicine, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Choukair D; Division of Pediatric Endocrinology, Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Keren B; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris 75013, France.; Nava C; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris 75013, France.; Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan.; Arai H; Department of Pediatric Neurology, Bobath Memorial Hospital, Osaka 536-0023, Japan.; Froukh T; Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan.; Faqeih EA; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia.; AlAsmari AM; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia.; Saleh MM; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia.; Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.; Schmitz CT; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Gibbs RA; 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.; Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa 236-0004, Japan.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.; Wagstaff LJ; Centre for Regenerative Medicine, Institute for Regeneration and Repair, University of Edinburgh, Edinburgh, UK.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: jlupski@bcm.edu.; Meijer D; Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, UK. Electronic address: dies.meijer@ed.ac.uk.; Wagner M; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, Munich, Germany.

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

Schnur RE; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA. rschnur@genedx.com.; Division of Genetics, Department of Pediatrics, Cooper Medical School of Rowan University, Cooper University Health Care, Camden, NJ, USA. rschnur@genedx.com.; Yousaf S; National Eye Institute, National Institutes of Health, Bethesda, MD, USA.; Liu J; National Eye Institute, National Institutes of Health, Bethesda, MD, USA.; Chung WK; Division of Clinical Genetics, Departments of Pediatrics and Medicine, Columbia University, New York, NY, USA.; Rhodes L; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA.; Marble M; Department of Pediatrics, Division of Pediatric Genetics, University of New Mexico Health Sciences Center, Albuquerque, NM, USA.; Zambrano RM; Department of Pediatrics, Division of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, USA.; Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.; Pierpont ME; Departments of Pediatrics and Ophthalmology, University of Minnesota Medical School, Minneapolis, MN, USA.; Schultz MJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Pichurin PN; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Olson RJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Graham GE; Division of Genetics, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Contreras-García GA; Division de Genética Médica, Departamento de Pediatría-Hospital Universitario de Santander, Departamento de Ciencias Básicas, Grupo de Investigación en Genética Humana UIS, Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia.; Campo-Neira KA; Semillero de Investigación en Genética Humana SIGENH, Escuela de Medicina, Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia.; Peñaloza-Mantilla CA; Semillero de Investigación en Genética Humana SIGENH, Escuela de Medicina, Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia.; Flage M; National Eye Institute, National Institutes of Health, Bethesda, MD, USA.; Kuppa S; National Eye Institute, National Institutes of Health, Bethesda, MD, USA.; Navarro K; National Eye Institute, National Institutes of Health, Bethesda, MD, USA.; Sacoto MJG; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA.; Wentzensen IM; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA.; Scarano MI; Division of Genetics, Department of Pediatrics, Cooper Medical School of Rowan University, Cooper University Health Care, Camden, NJ, USA.; Juusola J; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA.; Prada CE; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Hufnagel RB; National Eye Institute, National Institutes of Health, Bethesda, MD, USA. robert.hufnagel@nih.gov.

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

Miao J; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN.; Pinto E Vairo F; Department of Clinical Genomics, Mayo Clinic, Rochester, MN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN.; Hogan MC; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN.; Erickson SB; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN.; El Ters M; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN.; Bentall AJ; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN.; Kukla A; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN.; Greene EL; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN.; Hernandez LH; Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN.; Sethi S; Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN.; Lazaridis KN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN.; Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.; Lisi E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN.; Prochnow CA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN.; Zand L; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN. Electronic address: zand.ladan@mayo.edu.; Fervenza FC; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN. Electronic address: fervenza.fernando@mayo.edu.

Publisher: [Oxford, England] Country of Publication: England NLM ID: 0405543 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1942-5546 (Electronic) Linking ISSN: 00256196 NLM ISO Abbreviation: Mayo Clin Proc Subsets: MEDLINE

Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. cousin.margot@mayo.edu.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. cousin.margot@mayo.edu.; Creighton BA; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Breau KA; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Spillmann RC; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Torti E; GeneDx, Gaithersburg, MD, USA.; Dontu S; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Tripathi S; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.; Ajit D; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Edwards RJ; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Afriyie S; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Bay JC; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Harper KM; Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Beltran AA; Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Human Pluripotent Stem Cell Core, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Munoz LJ; Human Pluripotent Stem Cell Core, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Falcon Rodriguez L; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Stankewich MC; Department of Pathology, Yale University, New Haven, CT, USA.; Person RE; GeneDx, Gaithersburg, MD, USA.; Si Y; GeneDx, Gaithersburg, MD, USA.; Normand EA; GeneDx, Gaithersburg, MD, USA.; Blevins A; GeneDx, Gaithersburg, MD, USA.; May AS; Department of Neurology, Columbia University, New York, NY, USA.; Bier L; Institute for Genomic Medicine, Columbia University, New York, NY, USA.; Aggarwal V; Institute for Genomic Medicine, Columbia University, New York, NY, USA.; Laboratory of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Cremer K; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; Becker J; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; Engels H; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; Aretz S; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; MacKenzie JJ; McMaster University, Hamilton, Ontario, Canada.; Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Parsons GM; Spectrum Health Medical Genetics, Grand Rapids, MI, USA.; Mark P; Spectrum Health Medical Genetics, Grand Rapids, MI, USA.; Helbig I; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.; McKeown SE; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Stratton R; Genetics, Driscoll Children's Hospital, Corpus Christi, TX, USA.; Cogne B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, L'Institut du Thorax, Nantes, France.; Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, L'Institut du Thorax, Nantes, France.; Cacheiro P; William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.; Smedley D; William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.; Firth HV; Department of Clinical Genetics, Cambridge University Hospitals, Cambridge, UK.; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Weiss D; Neuropediatrics, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Fairley C; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.; Shieh JT; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Kritzer A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Jayakar P; Nicklaus Children's Hospital, Miami, FL, USA.; Kurtz-Nelson E; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Bernier RA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.; van de Laar IMBH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; McConkie-Rosell A; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; McDonald MT; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Kemppainen J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Lanpher BC; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.; Gunderson LB; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Pichurin PN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Yoon G; Divisions of Clinical/Metabolic Genetics and Neurology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Jech R; Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.; Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.; Beltran AS; Human Pluripotent Stem Cell Core, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Pharmacology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA.; Temple B; Department of Biochemistry and Biophysics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Moy SS; Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Tan QK; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Lorenzo DN; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. damaris_lorenzo@med.unc.edu.; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. damaris_lorenzo@med.unc.edu.; Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. damaris_lorenzo@med.unc.edu.

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