부산대학교 도서관

Friedman RK; Human Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Heath AS; Human Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Huffman JE; Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), Veteran Affairs Boston Healthcare System, Boston, Massachusetts, USA; Palo Alto Veterans Institute for Research (PAVIR), Veteran Affairs Palo Alto Health Care System, Palo Alto, California, USA; Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA.; Baker JT; Department of Medicine, Vanderbilt University, Nashville, Tennessee, USA.; Hasbani NR; Human Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Gagliano Taliun SA; Department of Medicine, Université de Montréal, Montréal, Québec, Canada; Department of Neurosciences, Université de Montréal, Montréal, Québec, Canada; Research Centre, Montréal Heart Institute, Montréal, Québec, Canada.; Chen MH; National Heart Lung and Blood Institute, Division of Intramural Research, Population Sciences Branch, The Framingham Heart Study, Framingham, Massachusetts, USA.; Howard TE; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, Texas, USA.; Lewis JP; Department of Medicine, University of Maryland, Baltimore, Maryland, USA.; Pankratz N; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA.; Patil S; Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.; Reiner AP; Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, Washington, USA.; Thibord F; National Heart Lung and Blood Institute, Division of Intramural Research, Population Sciences Branch, The Framingham Heart Study, Framingham, Massachusetts, USA.; Yanek LR; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Yao J; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-University of California Los Angeles Medical Center, Torrance, California, USA.; Chen HH; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Curran JE; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, Texas, USA.; Faraday N; Department of Anesthesiology and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Guo X; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-University of California Los Angeles Medical Center, Torrance, California, USA.; Wheeler MM; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Ryan KA; Department of Medicine, University of Maryland, Baltimore, Maryland, USA.; Zhou X; Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.; Cho K; Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA; Million Veteran Program Boston Coordinating Center, Veteran Affairs Boston Healthcare System, Boston, Massachusetts, USA; Department of Medicine, Division of Aging, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Almasy L; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Auer PL; Department of Biostatistics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Becker LC; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Wilson PWF; Division of Cardiology, Veteran Affairs Atlanta Healthcare System, Decatur, Georgia, USA; Division of Cardiology, Department of Medicine, Emory University School of Medicine, Atlanta, Georgia, USA.; Boerwinkle E; Human Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; O'Connell JR; Department of Medicine, University of Maryland, Baltimore, Maryland, USA.; Rich SS; Department of Public Health Sciences, Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, USA.; Samuels DC; Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee, USA.; Blangero J; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, Texas, USA.; Fornage M; Human Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA; Brown Foundation Institute of Molecular Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Kooperberg C; Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, Washington, USA.; Mathias RA; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Mitchell BD; Department of Medicine, University of Maryland, Baltimore, Maryland, USA.; Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-University of California Los Angeles Medical Center, Torrance, California, USA.; Johnson AD; National Heart Lung and Blood Institute, Division of Intramural Research, Population Sciences Branch, The Framingham Heart Study, Framingham, Massachusetts, USA.; Smith NL; Department of Epidemiology, University of Washington, Seattle, Washington, USA; Kaiser Permanente Washington Health Research Institute, Kaiser Permanente Washington, Seattle, Washington, USA; Seattle Epidemiologic Research and Information Center, Department of Veterans Affairs Office of Research and Development, Seattle, Washington, USA.; Coban-Akdemir ZH; Human Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Below JE; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Morrison AC; Human Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Johnsen JM; Bloodworks Research Institute, Seattle, Washington, USA; Department of Medicine, University of Washington, Seattle, Washington, USA.; de Vries PS; Human Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA. Electronic address: paul.s.devries@uth.tmc.edu.

Publisher: Elsevier Country of Publication: England NLM ID: 101170508 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7836 (Electronic) Linking ISSN: 15387836 NLM ISO Abbreviation: J Thromb Haemost Subsets: MEDLINE

Kolakada D; Department of Biochemistry and Molecular Genetics, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA; Molecular Biology Graduate Program, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.; Fu R; RNA Bioscience Initiative, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.; Biziaev N; Engelhardt Institute of Molecular Biology, The Russian Academy of Sciences, 119991 Moscow, Russia.; Shuvalov A; Engelhardt Institute of Molecular Biology, The Russian Academy of Sciences, 119991 Moscow, Russia.; Lore M; Molecular Biology Graduate Program, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.; Campbell AE; Department of Biochemistry and Molecular Genetics, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.; Cortázar MA; Department of Biochemistry and Molecular Genetics, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.; Sajek MP; Department of Biochemistry and Molecular Genetics, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA; RNA Bioscience Initiative, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.; Hesselberth JR; Department of Biochemistry and Molecular Genetics, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA; RNA Bioscience Initiative, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.; Mukherjee N; Department of Biochemistry and Molecular Genetics, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA; RNA Bioscience Initiative, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.; Alkalaeva E; Engelhardt Institute of Molecular Biology, The Russian Academy of Sciences, 119991 Moscow, Russia.; Coban-Akdemir ZH; University of Texas Health Science Center at Houston, Houston, TX, USA, TOPMed Fellowship.; Jagannathan S; Department of Biochemistry and Molecular Genetics, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA; RNA Bioscience Initiative, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA. Electronic address: sujatha.jagannathan@cuanschutz.edu.

Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 9918284260106676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-979X (Electronic) Linking ISSN: 2666979X NLM ISO Abbreviation: Cell Genom Subsets: MEDLINE

Pan X; Livestrong Cancer Institutes, and Department of Oncology, Dell Medical School, The University of Texas at Austin, Austin, TX 78712, USA.; Coban Akdemir ZH; 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 77030, USA.; Gao R; Departments of Chemistry and Biological Sciences, University of Illinois Chicago, Chicago, IL 60607, USA.; Jiang X; School of Biomedical Informatics, University of Texas Health Science Center, Houston, TX 77030, USA.; Sheynkman GM; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, VA 22903, USA.; Department of Biochemistry and Molecular Genetics, School of Medicine, University of Virginia, Charlottesville, VA 22903, USA.; Center for Public Health Genomics, and UVA Comprehensive Cancer Center, University of Virginia, Charlottesville, VA 22903, USA.; Wu E; Livestrong Cancer Institutes, and Department of Oncology, Dell Medical School, The University of Texas at Austin, Austin, TX 78712, USA.; Neuroscience Institute and Department of Neurosurgery, Baylor Scott & White Health, Temple, TX 76502, USA.; Department of Surgery, Texas A & M University Health Science Center, College of Medicine, Temple, TX 76508, USA.; Department of Pharmaceutical Sciences, Texas A & M University Health Science Center, College of Pharmacy, College Station, TX 77843, USA.; Huang JH; Neuroscience Institute and Department of Neurosurgery, Baylor Scott & White Health, Temple, TX 76502, USA.; Department of Surgery, Texas A & M University Health Science Center, College of Medicine, Temple, TX 76508, USA.; Sahni N; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX 77054, USA.; Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Quantitative and Computational Biosciences Program, Baylor College of Medicine, Houston, TX 77030, USA.; Yi SS; Livestrong Cancer Institutes, and Department of Oncology, Dell Medical School, The University of Texas at Austin, Austin, TX 78712, USA.; Oden Institute for Computational Engineering and Sciences (ICES), The University of Texas at Austin, Austin, TX 78712, USA.; Interdisciplinary Life Sciences Graduate Programs (ILSGP), College of Natural Sciences, The University of Texas at Austin, Austin, TX 78712, USA.; Department of Biomedical Engineering, Cockrell School of Engineering, The University of Texas at Austin, Austin, TX 78712, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 100912837 Publication Model: Print Cited Medium: Internet ISSN: 1477-4054 (Electronic) Linking ISSN: 14675463 NLM ISO Abbreviation: Brief Bioinform Subsets: MEDLINE

Kolakada D; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Molecular Biology Graduate Program, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Fu R; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Biziaev N; Engelhardt Institute of Molecular Biology, The Russian Academy of Sciences, 119991 Moscow, Russia.; Shuvalov A; Engelhardt Institute of Molecular Biology, The Russian Academy of Sciences, 119991 Moscow, Russia.; Lore M; Molecular Biology Graduate Program, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Campbell AE; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Cortázar MA; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Sajek MP; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.; Hesselberth JR; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Mukherjee N; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Alkalaeva E; Engelhardt Institute of Molecular Biology, The Russian Academy of Sciences, 119991 Moscow, Russia.; Coban Akdemir ZH; University of Texas Health Science Center at Houston, Houston, TX, USA; TOPMed Fellowship.; Jagannathan S; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Lead contact.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Copeland I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Wonkam-Tingang E; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.; Gupta-Malhotra M; Department of Cardiology, Baylor College of Medicine, San Antonio, Texas, USA.; Hashmi SS; Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Han Y; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.; Jajoo A; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.; Hall NJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; US Department of Agriculture Agricultural Research Service Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas, USA.; Hernandez PP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; US Department of Agriculture Agricultural Research Service Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas, USA.; Lie N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.; US Department of Agriculture Agricultural Research Service Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas, USA.; Liu D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Xu J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Rosenfeld J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA.; Haldipur A; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.; Desire Z; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.; Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular Physiology and Biophysics.; Li Q; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.; Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Division of Neurology and Developmental Neuroscience, Department of Pediatrics; and.; Department of Neuroscience, Baylor College of Medicine, Houston, Texas, USA.; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA.; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, Texas, USA.; Zaske AM; Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Milewicz DM; Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Shete S; The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, Texas, USA.; Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

Kuhny M; Department of Immunobiology, Yale University School of Medicine, New Haven, Connecticut, USA.; Forbes LR; Section of Pediatric Allergy, Immunology, and Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; William T. Shearer Texas Children's Hospital Center for Human Immunobiology, Houston, Texas, USA.; Çakan E; Department of Immunobiology, Yale University School of Medicine, New Haven, Connecticut, USA.; Vega-Loza A; Department of Immunobiology, Yale University School of Medicine, New Haven, Connecticut, USA.; Kostiuk V; Department of Immunobiology, Yale University School of Medicine, New Haven, Connecticut, USA.; Dinesh RK; Department of Immunobiology, Yale University School of Medicine, New Haven, Connecticut, USA.; Glauzy S; Department of Immunobiology, Yale University School of Medicine, New Haven, Connecticut, USA.; Stray-Pedersen A; Baylor-Hopkins Center for Mendelian Genomics, Houston, Texas, USA.; Institute of Clinical Medicine and.; Norwegian National Unit for Newborn Screening, Department of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.; Pezzi AE; Department of Dermatology, Baylor College of Medicine, Houston, Texas, USA.; Hanson IC; Section of Pediatric Allergy, Immunology, and Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Vargas-Hernandez A; Section of Pediatric Allergy, Immunology, and Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; William T. Shearer Texas Children's Hospital Center for Human Immunobiology, Houston, Texas, USA.; Xu ML; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA.; Coban-Akdemir ZH; Baylor-Hopkins Center for Mendelian Genomics, Houston, Texas, USA.; Department of Molecular and Human Genetics and.; Jhangiani SN; Department of Molecular and Human Genetics and.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Muzny DM; Department of Molecular and Human Genetics and.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Houston, Texas, USA.; Department of Molecular and Human Genetics and.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Lupski JR; Baylor-Hopkins Center for Mendelian Genomics, Houston, Texas, USA.; Department of Molecular and Human Genetics and.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Chinn IK; Section of Pediatric Allergy, Immunology, and Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; William T. Shearer Texas Children's Hospital Center for Human Immunobiology, Houston, Texas, USA.; Baylor-Hopkins Center for Mendelian Genomics, Houston, Texas, USA.; Schatz DG; Department of Immunobiology, Yale University School of Medicine, New Haven, Connecticut, USA.; Orange JS; Department of Pediatrics, College of Physicians and Surgeons of Columbia University, New York-Presbyterian Morgan Stanley Children's Hospital, New York, New York, USA.; Meffre E; Department of Immunobiology, Yale University School of Medicine, New Haven, Connecticut, USA.; Section of Rheumatology, Allergy, and Clinical Immunology, Yale University School of Medicine, New Haven, Connecticut, USA.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Cook SA; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Comrie WA; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Neomics Pharmaceuticals, LLC, Gaithersburg, MD, USA.; Poli MC; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Section of Pediatric Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX, USA.; Program of Immunogenetics and Translational Immunology, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Santiago, Chile.; Similuk M; Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.; Oler AJ; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, NIAID, NIH, Bethesda, MD, USA.; Faruqi AJ; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Kuhns DB; Neutrophil Monitoring Laboratory, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD, USA.; Yang S; Roy J. Carver Department of Biochemistry, Biophysics and Molecular Biology, Iowa State University, Ames, IA, USA.; Vargas-Hernández A; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Section of Pediatric Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX, USA.; Carisey AF; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Section of Pediatric Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX, USA.; Fournier B; Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR 1163, Paris, France.; University Paris Descartes Sorbonne Paris Cité, Institut des Maladies Génétiques-IMAGINE, Paris, France.; Anderson DE; Advanced Mass Spectrometry Facility, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA.; Price S; Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA.; Smelkinson M; Biological Imaging Section, Research Technologies Branch, NIAID, NIH, Bethesda, MD, USA.; Abou Chahla W; Department of Pediatric Hematology, Jeanne de Flandre Hospital, Centre Hospitalier Universitaire (CHU), Lille, France.; Forbes LR; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Section of Pediatric Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX, USA.; Mace EM; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.; Cao TN; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Section of Pediatric Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX, USA.; Coban-Akdemir ZH; Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Lupski JR; Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Orange JS; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.; Cuvelier GDE; Section of Pediatric Hematology/Oncology/BMT, CancerCare Manitoba, University of Manitoba, Winnipeg, MB, Canada.; Al Hassani M; Sheikh Khalifa Medical City, Abu Dhabi Healthcare Company (SEHA), Abu Dhabi, United Arab Emirates.; Al Kaabi N; Sheikh Khalifa Medical City, Abu Dhabi Healthcare Company (SEHA), Abu Dhabi, United Arab Emirates.; Al Yafei Z; Sheikh Khalifa Medical City, Abu Dhabi Healthcare Company (SEHA), Abu Dhabi, United Arab Emirates.; Jyonouchi S; Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Raje N; Division of Allergy, Immunology, Pulmonary, and Sleep Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Department of Internal Medicine and Pediatrics, University of Missouri Kansas City, Kansas City, MO, USA.; Caldwell JW; Section of Pulmonary, Critical Care, Allergy and Immunological Diseases, Wake Forest University School of Medicine, Winston-Salem, NC, USA.; Huang Y; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute and Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pathology, Anatomy, and Cell Biology, Thomas Jefferson University, Philadelphia, PA, USA.; Burkhardt JK; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute and Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Latour S; Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR 1163, Paris, France.; University Paris Descartes Sorbonne Paris Cité, Institut des Maladies Génétiques-IMAGINE, Paris, France.; Chen B; Roy J. Carver Department of Biochemistry, Biophysics and Molecular Biology, Iowa State University, Ames, IA, USA.; ElGhazali G; Sheikh Khalifa Medical City, Abu Dhabi Healthcare Company (SEHA), Abu Dhabi, United Arab Emirates.; Rao VK; Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA.; Chinn IK; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Section of Pediatric Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX, USA.; Lenardo MJ; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA. lenardo@nih.gov.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Charng WL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Current affiliation: Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Azamian M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Paine IS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Current affiliation: Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland.; Valdes SO; Department of Pediatrics, Division of Cardiology, Texas Children's Hospital, Houston, Texas, USA.; Cannon B; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA.; Zapata G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Hernandez PP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jhangiani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Doddapaneni H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Hu J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Boricha F; Department of Pediatrics, the University of Texas Health Science Center at Houston, Houston, Texas, USA.; Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Wehrens XHT; Department of Pediatrics, Division of Cardiology, Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA.; Cardiovascular Research Institute, Baylor College of Medicine, Houston, Texas, USA.; Belmont JW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Division of Cardiology, Texas Children's Hospital, Houston, Texas, USA.; Kim JJ; Department of Pediatrics, Division of Cardiology, Texas Children's Hospital, Houston, Texas, USA.; Miyake CY; Department of Pediatrics, Division of Cardiology, Texas Children's Hospital, Houston, Texas, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, 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

Boschann F; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Cogulu O; Department of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Balachandran S; Institute of Human Genetics, University of Lübeck, Lübeck, Germany; Institute of Human Genetics, Kiel University, Kiel, Germany.; Vallecillo-Garcia P; Institute of Biochemistry, Freie University Berlin, Berlin, Germany.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Hansmeier NR; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; BIH Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.; Coban Akdemir ZH; Department of Epidemiology, Human Genetics and Environmental Science, UTHealth School of Public Health, The University of Texas Houston, TX.; Prada-Medina CA; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Aykut A; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Fischer-Zirnsak B; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Badura S; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.; Durmaz B; Department of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Ozkinay F; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Hägerling R; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; BIH Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Stricker S; Institute of Biochemistry, Freie University Berlin, Berlin, Germany.; Gillessen-Kaesbach G; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.; Spielmann M; Institute of Human Genetics, University of Lübeck, Lübeck, Germany; Institute of Human Genetics, Kiel University, Kiel, Germany.; Horn D; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Brockmann K; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX.; Kornak U; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Schmidt J; Institute of Human Genetics, University of Lübeck, Lübeck, Germany; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

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: PubMed not MEDLINE; MEDLINE

Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Borel C; University of Geneva Medical School, 1211 Geneva, Switzerland.; Chen N; Department of Obstetrics and Gynaecology, Beijing 100730, China.; Zhao S; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases and Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Chinese Academy of Medical Sciences, Beijing 100730, China.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Salvi S; Human Genome Sequencing Center, Baylor College of Medicine (BCM), Houston, TX, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine (BCM), Houston, TX, USA.; Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine (BCM), Houston, TX, USA.; Koch A; University of Tübingen, Department of Obstetrics and Gynecology, Tübingen, Germany.; Rouskas K; Institute for Bioinnovation, Biomedical Sciences Research Center Al. Fleming, Vari, Athens 16672, Greece.; Institute of Applied Biosciences, Centre for Research and Technology Hellas, Thessaloniki, Greece.; Glentis S; Institute for Bioinnovation, Biomedical Sciences Research Center Al. Fleming, Vari, Athens 16672, Greece.; Deligeoroglou E; Center for Adolescent Medicine and UNESCO Chair on Adolescent Health Care, First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, Athens 11527, Greece.; Bacopoulou F; Center for Adolescent Medicine and UNESCO Chair on Adolescent Health Care, First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, Athens 11527, Greece.; Wise CA; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX, USA.; McDermott Center for Human Growth and Development, Department of Pediatrics and Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center at Dallas, Dallas, TX, USA.; Dietrich JE; Department of Obstetrics and Gynecology, Houston, TX, USA.; Department of Pediatrics, BCM, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Van den Veyver IB; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Department of Obstetrics and Gynecology, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Dimas AS; Institute for Bioinnovation, Biomedical Sciences Research Center Al. Fleming, Vari, Athens 16672, Greece.; Brucker S; University of Tübingen, Department of Obstetrics and Gynecology, Tübingen, Germany.; Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine (BCM), Houston, TX, USA.; Antonarakis SE; University of Geneva Medical School, 1211 Geneva, Switzerland.; Institute of Genetics and Genomics in Geneva, University of Geneva, 1205 Geneva, Switzerland.; Medigenome, the Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland.; Wu N; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases and Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Chinese Academy of Medical Sciences, Beijing 100730, China.; Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Zhu L; Department of Obstetrics and Gynaecology, Beijing 100730, China.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine (BCM), Houston, TX, USA.; Department of Pediatrics, BCM, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Ngo KJ; Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Rexach JE; Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Lee H; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Petty LE; Department of Medical Genetics, Vanderbilt University Medical Center, Nashville, Tennessee.; Perlman S; Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Valera JM; Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Deignan JL; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Mao Y; Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Aker M; Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Jhangiani SN; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Boerwinkle E; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Human Genetics Center, University of Texas Health Science Center, Houston, Texas.; Muzny D; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Nelson AB; Department of Neurology, UCSF Memory and Aging Center, University of California, San Francisco, California.; Hassin-Baer S; Department of Neurology, Chaim Sheba Medical Center, Movement Disorders Institute, Tel-Hashomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Poke G; Genetic Health Service NZ, Central Hub, Wellington Hospital, Wellington, New Zealand.; Neas K; Genetic Health Service NZ, Central Hub, Wellington Hospital, Wellington, New Zealand.; Geschwind MD; Department of Neurology, UCSF Memory and Aging Center, University of California, San Francisco, California.; Grody WW; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Department of Pediatrics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Gibbs R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Geschwind DH; Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Baylor College of Medicine, Texas Children's Hospital, Houston, Texas.; Below JE; Department of Medical Genetics, Vanderbilt University Medical Center, Nashville, Tennessee.; Nelson SF; Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Department of Pediatrics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Fogel BL; Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.; Clinical Neurogenomics Research Center, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.

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

Van Bergen NJ; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Guo Y; Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP), Philadelphia, USA.; Al-Deri N; Department of Biology, Concordia University, Montreal, Quebec, Canada.; Lipatova Z; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL, USA.; Stanga D; Department of Biology, Concordia University, Montreal, Quebec, Canada.; Zhao S; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL, USA.; Murtazina R; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL, USA.; Gyurkovska V; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Gezdirici A; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, 34303, Turkey.; Antony J; TY Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Sydney, Australia.; Collins F; Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia.; Medical Genomics Department, Royal Prince Alfred Hospital, Sydney, Australia.; Willis MJH; Department of Pediatrics, Naval Medical Center San Diego, San Diego, California, USA.; Coban Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, Texas, 77030, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Karaca E; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Massey S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.; Ranasinghe TG; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.; Sleiman P; Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP), Philadelphia, USA.; Troedson C; TY Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Sydney, Australia.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA.; Sacher M; Department of Biology, Concordia University, Montreal, Quebec, Canada.; Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada.; Segev N; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL, USA.; Hakonarson H; Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP), Philadelphia, USA.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, VIC, Australia.; Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Karolak JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.; Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Kilner D; Department of Respiratory and Sleep Medicine, Queensland Children's Hospital, South Brisbane, Queensland, Australia.; The University of Queensland, Brisbane, Queensland, Australia.; Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; Scurry B; Pathology Queensland, Royal Brisbane and Women's Hospital and Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.; Kinning E; West of Scotland Regional Genetics Service, Queen Elizabeth Hospital, Glasgow, UK.; Chandler K; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Coban Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Popek E; Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas.; Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Pan X; Livestrong Cancer Institutes, Department of Oncology, Dell Medical School, The University of Texas at Austin, Austin, TX 78712, USA.; Yun J; Oden Institute for Computational Engineering and Sciences (ICES), The University of Texas at Austin, Austin, TX 78712, USA.; Coban Akdemir ZH; 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 77030, USA.; Jiang X; School of Biomedical Informatics, University of Texas Health Science Center, Houston, TX 77030, USA.; Wu E; Livestrong Cancer Institutes, Department of Oncology, Dell Medical School, The University of Texas at Austin, Austin, TX 78712, USA.; Neuroscience Institute and Department of Neurosurgery, Baylor Scott & White Health, Temple, TX 76502, USA.; Department of Surgery, Texas A & M University Health Science Center, College of Medicine, Temple, TX 76508, USA.; Department of Pharmaceutical Sciences, Texas A & M University Health Science Center, College of Pharmacy, College Station, TX 77843, USA.; Huang JH; Neuroscience Institute and Department of Neurosurgery, Baylor Scott & White Health, Temple, TX 76502, USA.; Department of Surgery, Texas A & M University Health Science Center, College of Medicine, Temple, TX 76508, USA.; Sahni N; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Smithville, TX 78957, USA.; Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Quantitative and Computational Biosciences Program, Baylor College of Medicine, Houston, TX 77030, USA.; Yi SS; Livestrong Cancer Institutes, Department of Oncology, Dell Medical School, The University of Texas at Austin, Austin, TX 78712, USA.; Oden Institute for Computational Engineering and Sciences (ICES), The University of Texas at Austin, Austin, TX 78712, USA.; Interdisciplinary Life Sciences Graduate Programs (ILSGP), College of Natural Sciences, The University of Texas at Austin, Austin, TX 78712, USA.; Department of Biomedical Engineering, Cockrell School of Engineering, The University of Texas at Austin, Austin, TX 78712, USA.

Publisher: Elsevier B.V. on behalf of Research Network of Computational and Structural Biotechnology Country of Publication: Netherlands NLM ID: 101585369 Publication Model: eCollection Cited Medium: Print ISSN: 2001-0370 (Print) Linking ISSN: 20010370 NLM ISO Abbreviation: Comput Struct Biotechnol J Subsets: PubMed not MEDLINE

Li MM; Livestrong Cancer Institutes, Department of Oncology, Dell Medical School, The University of Texas at Austin, Austin, TX, USA.; Awasthi S; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Ghosh S; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Bisht D; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Coban Akdemir ZH; 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.; Sheynkman GM; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, VA, USA.; Department of Biochemistry and Molecular Genetics, School of Medicine, University of Virginia, Charlottesville, VA, USA.; Center for Public Health Genomics, and UVA Comprehensive Cancer Center, University of Virginia, Charlottesville, VA, USA.; Sahni N; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. nsahni@mdanderson.org.; Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. nsahni@mdanderson.org.; Quantitative and Computational Biosciences Program, Baylor College of Medicine, Houston, TX, USA. nsahni@mdanderson.org.; Yi SS; Livestrong Cancer Institutes, Department of Oncology, Dell Medical School, The University of Texas at Austin, Austin, TX, USA. stephen.yi@austin.utexas.edu.; Oden Institute for Computational Engineering and Sciences (ICES), The University of Texas at Austin, Austin, TX, USA. stephen.yi@austin.utexas.edu.; Department of Biomedical Engineering, Cockrell School of Engineering, The University of Texas at Austin, Austin, TX, USA. stephen.yi@austin.utexas.edu.; Interdisciplinary Life Sciences Graduate Programs (ILSGP), College of Natural Sciences, The University of Texas at Austin, Austin, TX, USA. stephen.yi@austin.utexas.edu.

Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

Boschann F; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Cogulu MÖ; Department of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Balachandran S; Institute of Human Genetics, University of Lübeck, Lübeck, Germany; Institute of Human Genetics, Kiel University, Kiel, Germany.; Vallecillo-Garcia P; Institute of Biochemistry, Freie University Berlin, Berlin, Germany.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Hansmeier NR; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; BIH Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.; Coban Akdemir ZH; Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, The University of Texas, Houston, TX.; Prada-Medina CA; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Aykut A; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Fischer-Zirnsak B; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Badura S; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.; Durmaz B; Department of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Ozkinay F; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Hägerling R; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; BIH Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Stricker S; Institute of Biochemistry, Freie University Berlin, Berlin, Germany.; Gillessen-Kaesbach G; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.; Spielmann M; Institute of Human Genetics, University of Lübeck, Lübeck, Germany; Institute of Human Genetics, Kiel University, Kiel, Germany.; Horn D; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Brockmann K; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX.; Kornak U; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany. Electronic address: uwe.kornak@med.uni-goettingen.de.; Schmidt J; Institute of Human Genetics, University of Lübeck, Lübeck, Germany; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

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

Li L; Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, P.R. China.; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Jiao X; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; D'Atri I; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.; Ono F; Section on Model Synaptic Systems, Laboratory of Molecular Physiology, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, Maryland, United States of America.; Department of Physiology, Osaka Medical College, Takatsuki, Japan.; Nelson R; Unit on Neural Circuits, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America.; Chan CC; Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Nakaya N; Section of Molecular Mechanisms of Glaucoma, Laboratory of Molecular and Developmental Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Ma Z; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Ma Y; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Cai X; School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, P.R. China.; Zhang L; School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, P.R. China.; Lin S; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.; Hameed A; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.; Chioza BA; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.; Hardy H; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.; Arno G; Institute of Ophthalmology, University College London, London, United Kingdom.; Department of Biosciences, Moorfields Eye Hospital, London, United Kingdom.; Hull S; Institute of Ophthalmology, University College London, London, United Kingdom.; Department of Biosciences, Moorfields Eye Hospital, London, United Kingdom.; Khan MI; Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan.; Fasham J; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.; Department of Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.; Harlalka GV; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.; Michaelides M; Institute of Ophthalmology, University College London, London, United Kingdom.; Department of Biosciences, Moorfields Eye Hospital, London, United Kingdom.; Moore AT; Institute of Ophthalmology, University College London, London, United Kingdom.; Department of Biosciences, Moorfields Eye Hospital, London, United Kingdom.; Ophthalmology Department, UCSF School of Medicine, San Francisco, California, United States of America.; Coban Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Jhangiani S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.; Cremers FPM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Qamar R; Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan.; Salman A; Faculty of Medicine, University of Southampton, Southampton, United Kingdom.; Chilton J; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.; Self J; Faculty of Medicine, University of Southampton, Southampton, United Kingdom.; Ayyagari R; Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America.; Kabir F; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Naeem MA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.; Ali M; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Akram J; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan.; National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.; Sieving PA; National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Riazuddin S; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan.; National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.; Baple EL; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.; Department of Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.; Riazuddin SA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Crosby AH; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.; Hejtmancik JF; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Gawliński P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Pelc M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Jhangiani S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Jurkiewicz E; Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.; Gambin T; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Institute of Computer Science, Warsaw University of Technology, Warsaw, Texas.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Różdżyńska-Świątkowska A; Anthropology Laboratory, Children's Memorial Health Institute, Warsaw, Poland.; Dawidziuk M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Guilbride DL; Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Baxter SM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: samantha@broadinstitute.org.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Lake NJ; Department of Genetics, Yale School of Medicine, New Haven, CT; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.; Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA; Brotman Baty Institute for Precision Medicine, Seattle, WA.; Buyske S; Department of Statistics, Rutgers University, Piscataway, NJ; Department of Genetics, Rutgers University, Piscataway, NJ.; Blue EE; Brotman Baty Institute for Precision Medicine, Seattle, WA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA.; Chadwick LH; Division of Genome Sciences, National Human Genome Research Institute, Bethesda, MD.; Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; 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.; Doheny KF; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.; Davis CP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA.; Lek M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Department of Genetics, Yale School of Medicine, New Haven, CT.; Wellington C; Division of Genome Sciences, National Human Genome Research Institute, Bethesda, MD.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.; Gerstein M; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.; Lifton RP; Department of Genetics, Yale School of Medicine, New Haven, CT; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Matise TC; Department of Genetics, Rutgers University, Piscataway, NJ.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Valle D; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.; Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA; Brotman Baty Institute for Precision Medicine, Seattle, WA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA.; Hamosh A; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.; Mane S; Department of Genetics, Yale School of Medicine, New Haven, CT.; Nickerson DA; Brotman Baty Institute for Precision Medicine, Seattle, WA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA. Electronic address: hrehm@broadinstitute.org.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA. Electronic address: odonnell@broadinstitute.org.

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

Fasham J; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Lin S; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Ghosh P; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù (Bambino Gesù Pediatric Hospital), IRCCS, Rome, Italy.; Farrow EG; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.; Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.; Kussman J; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.; Zhou D; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.; Hemming R; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Zahka K; Pediatric Cardiology, Cleveland Clinic, Cleveland, OH.; Chioza BA; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Rawlins LE; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Wenger OK; New Leaf Center, Clinic for Special Children, Mount Eaton, OH.; Gunning AC; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù (Bambino Gesù Pediatric Hospital), IRCCS, Rome, Italy.; Onesimo R; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli (Gemelli University Hospital), IRCCS, Rome, Italy.; Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli (Gemelli University Hospital), IRCCS, Rome, Italy.; Barker E; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Osawa N; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Rodriguez MC; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Neuhann TM; MGZ Medical Genetics Centre, Munich, Germany.; Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.; Keena B; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.; Capasso J; Golisano Children's Hospital and Flaum Eye Institute, University of Rochester Medical Center, Rochester, NY.; Levin AV; Golisano Children's Hospital and Flaum Eye Institute, University of Rochester Medical Center, Rochester, NY.; Bhoj E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.; Li D; Golisano Children's Hospital and Flaum Eye Institute, University of Rochester Medical Center, Rochester, NY.; Hakonarson H; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.; Wentzensen IM; GeneDx, Gaithersburg, MD.; Jackson A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Chandler KE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX.; Sheppard SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.; Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù (Bambino Gesù Pediatric Hospital), IRCCS, Rome, Italy. Electronic address: marco.tartaglia@opbg.net.; Triggs-Raine B; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada. Electronic address: barbara.triggs-raine@umanitoba.ca.; Crosby AH; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom. Electronic address: a.h.crosby@exeter.ac.uk.; Baple EL; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom. Electronic address: e.baple@exeter.ac.uk.

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