부산대학교 도서관

Dries A. M.; Kirillova A.; Reuter C. M.; Garcia J.; Zouk H.; Hawley M.; Murray B.; Tichnell C.; Pilichou K.; Protonotarios A.; Medeiros-Domingo A.; Kelly M. A.; Baras A.; Ingles J.; Semsarian C.; Bauce B.; Celeghin R.; Basso C.; Jongbloed J. D. H.; Nussbaum R. L.; Funke B.; Cerrone M.; Mestroni L.; Taylor M. R. G.; Sinagra G.; Merlo M.; Saguner A. M.; Elliott P. M.; Syrris P.; van Tintelen J. P.; James C. A.; Haggerty C. M.; Parikh V. N.

Genet Med

Kumar, Akash; Zastrow, Diane B; Kravets, Elijah J; Beleford, Daniah; Ruzhnikov, Maura RZ; Grove, Megan E; Dries, Annika M; Kohler, Jennefer N; Waggott, Daryl M; Yang, Yaping; Huang, Yong; Network, Undiagnosed Diseases; Mackenzie, Katherine M; Eng, Christine M; Fisher, Paul G; Ashley, Euan A; Teng, Joyce M; Stevenson, David A; Shieh, Joseph T; Wheeler, Matthew T; Bernstein, Jonathan A

American Journal of Medical Genetics Part A, vol 179, iss 6

Newman, John H; Shaver, Aaron; Sheehan, Jonathan H; Mallal, Simon; Stone, John H; Pillai, Shiv; Bastarache, Lisa; Riebau, Derek; Allard‐Chamard, Hugues; Stone, William M; Perugino, Cory; Pilkinton, Mark; Smith, Scott A; McDonnell, Wyatt J; Capra, John A; Meiler, Jens; Cogan, Joy; Xing, Kelly; Mahajan, Vinay S; Mattoo, Hamid; Hamid, Rizwan; Phillips, John A; Adams, David R; Aday, Aaron; Alejandro, Mercedes E; Allard, Patrick; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F; Beggs, Alan H; Behnam, Babak; Bellen, Hugo J; Bernstein, Jonathan A; Bican, Anna; Bick, David P; Birch, Camille L; Bonner, Devon; Boone, Braden E; Bostwick, Bret L; Briere, Lauren C; Brown, Donna M; Brush, Matthew; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Chen, Shan; Clark, Gary D; Coakley, Terra R; Cooper, Cynthia M; Cope, Heidi; Craigen, William J; D'Souza, Precilla; Davids, Mariska; Davidson, Jean M; Dayal, Jyoti G; Dell'Angelica, Esteban C; Dhar, Shweta U; Dipple, Katrina M; Donnell‐Fink, Laurel A; Dorrani, Naghmeh; Dorset, Daniel C; Douine, Emilie D; Draper, David D; Dries, Annika M; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Enns, Gregory M; Eskin, Ascia; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fisher, Paul G; Fogel, Brent L; Friedman, Noah D; Gahl, William A; Glanton, Emily; Godfrey, Rena A; Goldman, Alica M; Goldstein, David B; Gould, Sarah E; Gourdine, Jean‐Philippe F; Groden, Catherine A; Gropman, Andrea L; Haendel, Melissa; Hanchard, Neil A; Handley, Lori H; Herzog, Matthew R; High, Francis; Holm, Ingrid A; Hom, Jason; Howerton, Ellen M; Huang, Yong; Jamal, Fariha; Jiang, Yong‐hui; Johnston, Jean M

Mol Genet Genomic Med
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine, vol 7, iss 6

Tremblay-Gravel M; Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, CA (M.T.-G., K.I., A.M.D., M.T.W., V.N.P.).; Montreal Heart Institute, Université de Montréal, Québec, Canada (M.T.-G.).; Ichimura K; Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, CA (M.T.-G., K.I., A.M.D., M.T.W., V.N.P.).; Cardiovascular Institute, Stanford University School of Medicine, CA (K.I., F.H., V.N.P.).; Picard K; Division of Cardiovascular Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA (K.P., N.K.L.).; Kawano Y; Division of Rheumatology, Inflammation, and Immunity, Brigham and Women's Hospital, Boston, MA (Y.K.).; Dries AM; Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, CA (M.T.-G., K.I., A.M.D., M.T.W., V.N.P.).; Haddad F; Cardiovascular Institute, Stanford University School of Medicine, CA (K.I., F.H., V.N.P.).; Lakdawala NK; Division of Cardiovascular Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA (K.P., N.K.L.).; Wheeler MT; Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, CA (M.T.-G., K.I., A.M.D., M.T.W., V.N.P.).; Parikh VN; Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, CA (M.T.-G., K.I., A.M.D., M.T.W., V.N.P.).; Cardiovascular Institute, Stanford University School of Medicine, CA (K.I., F.H., V.N.P.).

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

Burrage, Lindsay C; Reynolds, John J; Baratang, Nissan Vida; Phillips, Jennifer B; Wegner, Jeremy; McFarquhar, Ashley; Higgs, Martin R; Christiansen, Audrey E; Lanza, Denise G; Seavitt, John R; Jain, Mahim; Li, Xiaohui; Parry, David A; Raman, Vandana; Chitayat, David; Chinn, Ivan K; Bertuch, Alison A; Karaviti, Lefkothea; Schlesinger, Alan E; Earl, Dawn; Bamshad, Michael; Savarirayan, Ravi; Doddapaneni, Harsha; Muzny, Donna; Jhangiani, Shalini N; Eng, Christine M; Gibbs, Richard A; Bi, Weimin; Emrick, Lisa; Rosenfeld, Jill A; Postlethwait, John; Westerfield, Monte; Dickinson, Mary E; Beaudet, Arthur L; Ranza, Emmanuelle; Huber, Celine; Cormier-Daire, Valérie; Shen, Wei; Mao, Rong; Heaney, Jason D; Orange, Jordan S; Genomics, University of Washington Center for Mendelian; Network, Undiagnosed Diseases; Adams, David R; Aday, Aaron; Alejandro, Mercedes E; Allard, Patrick; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Baker, Eva; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F; Beggs, Alan H; Behnam, Babak; Bellen, Hugo J; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bick, David P; Birch, Camille L; Bonner, Devon; Boone, Braden E; Bostwick, Bret L; Briere, Lauren C; Brokamp, Elly; Brown, Donna M; Brush, Matthew; Burke, Elizabeth A; Butte, Manish J; Chen, Shan; Clark, Gary D; Coakley, Terra R; Cogan, Joy D; Colley, Heather A; Cooper, Cynthia M; Cope, Heidi; Craigen, William J; D’Souza, Precilla; Davids, Mariska; Davidson, Jean M; Dayal, Jyoti G; Dell’Angelica, Esteban C; Dhar, Shweta U; Dipple, Katrina M; Donnell-Fink, Laurel A; Dorrani, Naghmeh; Dorset, Daniel C; Douine, Emilie D; Draper, David D; Dries, Annika M; Duncan, Laura; Eckstein, David J; Emrick, Lisa T; Enns, Gregory M; Eskin, Ascia; Esteves, Cecilia

American Journal of Human Genetics, vol 104, iss 3

Jordan VK; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.; Fregeau B; Department of Neurology, University of California, San Francisco, San Francisco, California.; Ge X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics, Houston, Texas.; Giordano J; Institute of Genomic Medicine and Department of OB/GYN, Columbia University Medical Center, New York, New York.; Wapner RJ; Institute of Genomic Medicine and Department of OB/GYN, Columbia University Medical Center, New York, New York.; Balci TB; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Carter MT; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Bernat JA; Stead Family Department of Pediatrics, The University of Iowa, Iowa City, Iowa.; Moccia AN; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan.; Srivastava A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan.; Martin DM; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan.; Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan.; Pappas J; New York University School of Medicine, New York, New York.; Svoboda MD; Department of Pediatrics, Children's Hospital of San Antonio/Baylor College of Medicine, San Antonio, Texas.; Rio M; Laboratory of Developmental Brain Disorders, INSERM UMR 1163, Paris, France.; Service de Génétique, Necker Enfants Malades University Hospital, APHP, Paris, France.; Boddaert N; Laboratory of Developmental Brain Disorders, INSERM UMR 1163, Paris, France.; Pediatric Radiology, Necker Enfants Malades University Hospital, APHP, Paris, France.; Cantagrel V; Laboratory of Developmental Brain Disorders, INSERM UMR 1163, Paris, France.; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Kohler JN; Stanford University School of Medicine, Stanford, California.; Bernstein JA; Stanford University School of Medicine, Stanford, California.; Dries AM; Stanford University School of Medicine, Stanford, California.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; DeFilippo C; Stanford Children's Health/Lucile Packard Children's Hospital Stanford, Palo Alto, California.; Thorson W; University of Miami, Miller School of Medicine, Miami, Florida.; Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics, Houston, Texas.; Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, California.; Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics, Houston, Texas.; Scott DA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Saberi S; University of Michigan School of Medicine, Ann Arbor.; Wheeler M; Stanford University School of Medicine, Palo Alto, California.; Bragg-Gresham J; University of Michigan School of Medicine, Ann Arbor.; Hornsby W; University of Michigan School of Medicine, Ann Arbor.; Agarwal PP; University of Michigan School of Medicine, Ann Arbor.; Attili A; University of Michigan School of Medicine, Ann Arbor.; Concannon M; University of Michigan School of Medicine, Ann Arbor.; Dries AM; Stanford University School of Medicine, Palo Alto, California.; Shmargad Y; Stanford University School of Medicine, Palo Alto, California.; Salisbury H; Stanford University School of Medicine, Palo Alto, California.; Kumar S; University of Michigan School of Medicine, Ann Arbor.; Herrera JJ; University of Michigan School of Medicine, Ann Arbor.; Myers J; VA Palo Alto Health Care System, Palo Alto, California.; Helms AS; University of Michigan School of Medicine, Ann Arbor.; Ashley EA; Stanford University School of Medicine, Palo Alto, California.; Day SM; University of Michigan School of Medicine, Ann Arbor.

Publisher: American Medical Association Country of Publication: United States NLM ID: 7501160 Publication Model: Print Cited Medium: Internet ISSN: 1538-3598 (Electronic) Linking ISSN: 00987484 NLM ISO Abbreviation: JAMA Subsets: MEDLINE

Dries AM; Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Kirillova A; Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Reuter CM; Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Garcia J; Invitae, Inc, San Francisco, CA, USA.; Zouk H; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Dept. Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Hawley M; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Dept. Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Murray B; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA.; Tichnell C; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA.; Pilichou K; Dept. of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Padua, Italy.; Protonotarios A; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK.; Medeiros-Domingo A; SwissDNALysis-Cardiogenetics, Dübendorf Switzerland, Zurich, Switzerland.; Kelly MA; Geisinger, Danville, PA, USA.; Baras A; Regeneron Genetics Center, Tarrytown, NY, USA.; Ingles J; Cardio Genomics Program at Centenary Institute, The University of Sydney, Sydney, Australia.; Semsarian C; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Sydney, Australia.; Bauce B; Dept. of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Padua, Italy.; Celeghin R; Dept. of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Padua, Italy.; Basso C; Dept. of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Padua, Italy.; Jongbloed JDH; University of Groningen Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.; Nussbaum RL; Invitae, Inc, San Francisco, CA, USA.; Funke B; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Dept. Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Cerrone M; Leon H. Charney Division of Cardiology, NYU School of Medicine, New York, NY, US.; Mestroni L; University of Colorado Anschutz Medical Campus, Aurora, CO, US.; Taylor MRG; University of Colorado Anschutz Medical Campus, Aurora, CO, US.; Sinagra G; Cardiovascular Department, Azienda Sanitaria-Universitaria Giuliano Isontina (ASUGI), Trieste, Italy.; Merlo M; Cardiovascular Department, Azienda Sanitaria-Universitaria Giuliano Isontina (ASUGI), Trieste, Italy.; Saguner AM; Department of Cardiology, University Heart Center, University Hospital, Zurich, Switzerland.; Elliott PM; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK.; Syrris P; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK.; van Tintelen JP; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Netherlands Heart Institute, Utrecht, the Netherlands.; James CA; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA.; Haggerty CM; Geisinger, Danville, PA, USA.; Parikh VN; Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA. vparikh@stanford.edu.

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

Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. ghayda.mirzaa@seattlechildrens.org.; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA. ghayda.mirzaa@seattlechildrens.org.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA. ghayda.mirzaa@seattlechildrens.org.; Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.; Piton A; Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, France.; Institute of Genetics and Molecular and Cellular Biology, Université de Strasbourg, Illkirch, France.; Popp B; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.; Foss K; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Guo H; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Harripaul R; The Campbell Family Mental Health Research Institute, Centre for Addiction & Mental Health (CAMH), Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.; Xia K; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Scheck J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Sajan SA; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.; Tang S; WuXi NextCODE, Cambridge, MA, USA.; Bonneau D; Département de Biochimie et de Génétique, CHU d'Angers, Angers, France.; UMR INSERM 1083 CNRS 6015, Angers, France.; Beck A; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; White J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Harris J; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Smith-Hicks C; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Hoyer J; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.; Zweier C; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.; Reis A; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.; Thiel CT; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.; Jamra RA; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.; Zeid N; Yale New Haven Health, New Haven, CT, USA.; Yang A; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Farach LS; Department of Pediatrics, McGovern Medical School at the University of Texas Health Sciences Center, Houston, TX, USA.; Walsh L; Indiana University Health at Riley Hospital for Children, Indianapolis, IN, USA.; Payne K; Indiana University Health at Riley Hospital for Children, Indianapolis, IN, USA.; Rohena L; Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.; Velinov M; New York State Institute for Basic Research in Developmental Disability, NY, Staten Island, USA.; Ziegler A; Département de Biochimie et de Génétique, CHU d'Angers, Angers, France.; Service de Génétique Médicale, Centre hospitalier, Le Mans, France.; Schaefer E; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d'Alsace, Strasbourg, France.; Gatinois V; Service de génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Strasbourg, France.; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France.; Université Montpellier, Unité Inserm U1183, Montpellier, France.; Geneviève D; Service de génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Strasbourg, France.; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France.; Université Montpellier, Unité Inserm U1183, Montpellier, France.; Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Kohler J; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Rotenberg J; Memorial Hermann Memorial City Medical Center, Houston, TX, USA.; Wheeler P; Arnold Palmer Hospital for Children, Orlando, FL, USA.; Larson A; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.; Ernst ME; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Akman CI; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Division of Pediatric Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Westman R; Division of Genetics, St. Luke's Clinic, Boise, ID, USA.; Blanchet P; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France.; Schillaci LA; Department of Genetics and Genome Sciences, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.; Vincent-Delorme C; Service de Génétique Clinique Guy Fontaine Centre de référence maladies rares Anomalies du dévelopement, Hôpital Jeanne de Flandre Lille, Lille, France.; Gripp KW; Department of Pediatrics, AI duPont Hospital, DE, Wilmington, USA.; Mattioli F; Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch-Graffenstaden, Lille, France.; Guyader GL; Service de Génétique Clinique, Centre de compétence Maladies rares Anomalies du dévelopement, CHU de Poitiers, Poitiers, France.; Gerard B; Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, France.; Mathieu-Dramard M; Service de Génétique Clinique Centre de référence maladies rares Anomalies du dévelopement, CHU Amiens-Picardie, Amiens, France.; Morin G; Children's Medical Center, UMass Memorial Medical Center, Worcester, MA, USA.; Sasanfar R; Children's Medical Center, UMass Memorial Medical Center, Worcester, MA, USA.; Ayub M; Department of Psychiatry, Queen's University, Kingston, ON, Canada.; Vasli N; Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada.; Yang S; GeneDx, Gaithersburg, MD, USA.; Person R; GeneDx, Gaithersburg, MD, USA.; Monaghan KG; GeneDx, Gaithersburg, MD, USA.; Nickerson DA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Enns GM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA, USA.; Dries AM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Rowe LJ; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.; Tsai ACH; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.; Svihovec S; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.; Friedman J; Departments of Neurosciences and Pediatrics, University of California San Diego and Division of Neurology, Rady Children's Hospital, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Agha Z; Department of Biosciences, COMSATS University, Islamabad, Pakistan.; Qamar R; Department of Biosciences, COMSATS University, Islamabad, Pakistan.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Martinez-Agosto J; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Vincent M; CHU de Nantes, Service de génétique médicale, Nantes, France.; Sunderland WJ; University of Washington Foundation Board, University of Washington, Seattle, WA, USA.; Bernstein JA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA, 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.; Vincent JB; The Campbell Family Mental Health Research Institute, Centre for Addiction & Mental Health (CAMH), Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.; Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.

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

Reuter CM; Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA.; Brimble E; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA.; DeFilippo C; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA; Stanford Children's Health, Palo Alto, CA.; Dries AM; Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA.; Enns GM; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA.; Ashley EA; Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA; Department of Genetics, Stanford University School of Medicine, Stanford, CA.; Bernstein JA; Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA; Stanford Children's Health, Palo Alto, CA.; Fisher PG; Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.; Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA. Electronic address: wheelerm@stanford.edu.

Publisher: Mosby Country of Publication: United States NLM ID: 0375410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6833 (Electronic) Linking ISSN: 00223476 NLM ISO Abbreviation: J Pediatr Subsets: MEDLINE

Oláhová M; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Yoon WH; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Thompson K; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Jangam S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Fernandez L; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.; Davidson JM; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.; Kyle JE; Biological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.; Grove ME; Clinical Genomics Program, Stanford Health Care, Stanford, CA 94305, USA.; Fisk DG; Clinical Genomics Program, Stanford Health Care, Stanford, CA 94305, USA.; Kohler JN; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.; Holmes M; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Dries AM; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.; Huang Y; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.; Zhao C; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.; Contrepois K; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Zappala Z; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Frésard L; Department of Pathology, Stanford University, Stanford, CA 94305, USA.; Waggott D; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.; Zink EM; Biological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.; Kim YM; Biological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.; Heyman HM; Biological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.; Stratton KG; Computing & Analytics Division, National Security Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.; Webb-Robertson BM; Computing & Analytics Division, National Security Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.; Snyder M; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Merker JD; Clinical Genomics Program, Stanford Health Care, Stanford, CA 94305, USA; Department of Pathology, Stanford University, Stanford, CA 94305, USA.; Montgomery SB; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Pathology, Stanford University, Stanford, CA 94305, USA.; Fisher PG; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.; Feichtinger RG; Department of Pediatrics, Paracelsus Medical University, 5020 Salzburg, Austria.; Mayr JA; Department of Pediatrics, Paracelsus Medical University, 5020 Salzburg, Austria.; Hall J; Department of Neuroradiology, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK.; Barbosa IA; Department of Medical and Molecular Genetics, King's College London School of Basic and Medical Biosciences, London SE1 9RT, UK.; Simpson MA; Department of Medical and Molecular Genetics, King's College London School of Basic and Medical Biosciences, London SE1 9RT, UK.; Deshpande C; Clinical Genetics Unit, Guys and St. Thomas' NHS Foundation Trust, London SE1 9RT, UK.; Waters KM; Biological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.; Koeller DM; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.; Metz TO; Biological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.; Morris AA; Institute of Human Development, University of Manchester, Manchester M13 9PL, UK; Willink Metabolic Unit, Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.; Schelley S; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Cowan T; Department of Pathology, Stanford University, Stanford, CA 94305, USA.; Friederich MW; Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado at Denver, Aurora, CO 80045, USA.; McFarland R; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Van Hove JLK; Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado at Denver, Aurora, CO 80045, USA.; Enns GM; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.; Ashley EA; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Clinical Genomics Program, Stanford Health Care, Stanford, CA 94305, USA; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Bellen HJ; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.; Bernstein JA; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Wheeler MT; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address: wheelerm@stanford.edu.

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