المؤلفون: Barkovich, Anthony, Wheway, G, Schmidts, M, Mans, DA, Szymanska, K, Nguyen, TMT, Racher, H, Phelps, IG, Toedt, G, Kennedy, J, Wunderlich, KA

URL الوصول: https://escholarship.org/uc/item/6gn7s3sb

المؤلفون: Wheway, G, Schmidts, M, Mans, DA, Szymanska, K, Nguyen, TT, Racher, H, Phelps, IG, Toedt, G, Kennedy, J, Wunderlich, KA, Sorusch, N, Abdelhamed, ZA, Natarajan, S, Herridge, W, van Reeuwijk, J, Horn, N, Boldt, K, Parry, DA, Letteboer, SJ, Roosing, S, Adams, M, Bell, SM, Bond, J, Higgins, J, Morrison, EE, Tomlinson, DC, Slaats, GG, van Dam, TJ, Huang, L, Kessler, K, Giessl, A, Logan, CV, Boyle, EA, Shendure, J, Anazi, S, Aldahmesh, M, Al Hazzaa, S, Hegele, RA, Ober, C, Frosk, P, Mhanni, AA, Chodirker, BN, Chudley, AE, Lamont, R, Bernier, FP, Beaulieu, CL, Gordon, P, Pon, RT, Donahue, C, Barkovich, AJ, Wolf, L, Toomes, C, Thiel, CT, Boycott, KM, McKibbin, M, Inglehearn, CF, UK10K Consortium, University ofWashington Center forMendelian Genomics, Stewart, F, Omran, H, Huynen, MA, Sergouniotis, PI, Alkuraya, FS, Parboosingh, JS, Innes, AM, Willoughby, CE, Giles, RH, Webster, AR, Ueffing, M, Blacque, O, Gleeson, JG, Wolfrum, U, Beales, PL, Gibson, T, Doherty, D, Mitchison, HM, Roepman, R, Johnson, CA

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::98293f0999c69ed9d20eac332c60a6ef

المؤلفون: Bachmann-Gagescu, R, Dempsey, J, Phelps, IG, Isabella, C, O'Day, D, O'Roak, B, Shendure, J, Glass, I, Doherty, D

المصدر: Cilia; December 2015, Vol. 4 Issue: Supplement 1 p1-1, 1p

المؤلفون: Vong KI; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Lee S; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Au KS; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA., Crowley TB; 22q and You Center, Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA., Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Martino J; Division of Nephrology, Department of Medicine, Columbia University, NY 10027, USA., Haller M; Center for Reproductive Medicine, Department of Molecular and Cellular Biology and Scott Department of Urology, Baylor College of Medicine, TX 77030, USA., Araújo C; Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14040-900, Brazil., Machado HR; Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14040-900, Brazil., George R; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Gerding B; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., James KN; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Stanley V; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Jiang N; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Alu K; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Meave N; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Nidhiry AS; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Jiwani F; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Tang I; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Nisal A; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Jhamb I; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Patel A; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Patel A; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., McEvoy-Venneri J; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Barrows C; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Shen C; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Ha YJ; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Howarth R; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Strain M; Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 27710, USA., Ashley-Koch AE; Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 27710, USA., Azam M; Pediatrics and Child Neurology, Wah Medical College, Wah Cantt, Punjab 47000, Pakistan., Mumtaz S; Department of Biological Sciences, National University of Medical Sciences (NUMS), Punjab 46000, Pakistan., Bot GM; Neurosurgery Division, Department of Surgery, Jos University Teaching Hospital, Jos 930105, Nigeria., Finnell RH; Center for Precision Environmental Health, Departments of Molecular and Human Genetics, Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, TX 77030, USA., Kibar Z; Department of Neurosciences, University of Montreal and CHU Sainte Justine Research Center, Montreal, QC H3T 1C5, Canada., Marwan AI; Division of Pediatric Surgery, University of Colorado School of Medicine, Children's Hospital of Colorado, Colorado Fetal Care Center, Aurora, CO 80045, USA., Melikishvili G; Department of Pediatrics, MediClubGeorgia Medical Center, Tbilisi 0160, Georgia., Meltzer HS; Department of Neurosurgery, University of California San Diego, Rady Children's Hospital, San Diego, CA 92123, USA., Mutchinick OM; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, 14080 Mexico City, Mexico., Stevenson DA; Division of Medical Genetics, Stanford University, Palo Alto, CA 94305, USA., Mroczkowski HJ; Division of Medical Genetics, University of Tennessee Health Science Campus, Memphis, TN 38163, USA., Ostrander B; Division of Pediatric Neurology, Primary Children's Hospital, University of Utah, Salt Lake City, UT 84113, USA., Schindewolf E; Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Moldenhauer J; Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Zackai EH; 22q and You Center, Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA., Emanuel BS; 22q and You Center, Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA., Garcia-Minaur S; Clinical Genetics Section, Institute of Medical and Molecular Genetics, University Hospital La Paz, 28046 Madrid, Spain., Nowakowska BA; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka, 01-211 Warsaw, Poland., Stevenson RE; JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt., Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA., McNamara HK; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Department of Neurology, University of Washington, Seattle, WA 98105, USA., Phelps IG; Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA., Deng M; Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA., Glass IA; Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA., Morrow B; Division of Translational Genetics, Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA., McDonald-McGinn DM; 22q and You Center, Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Human Biology and Medical Genetics, Sapienza University, 00185-Rome RM, Italy., Sanna-Cherchi S; Division of Nephrology, Department of Medicine, Columbia University, NY 10027, USA., Lamb DJ; Center for Reproductive Medicine, Department of Molecular and Cellular Biology and Scott Department of Urology, Baylor College of Medicine, TX 77030, USA.; Department of Urology, Center for Reproductive Genomics, Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY 10021, USA., Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.

مؤلفون مشاركون: Spina Bifida Sequencing Consortium‡

المصدر: Science (New York, N.Y.) [Science] 2024 May 03; Vol. 384 (6695), pp. 584-590. Date of Electronic Publication: 2024 May 02.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

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

مواضيع طبية MeSH: Chromosome Deletion* , Chromosomes, Human, Pair 22*/genetics , Meningomyelocele*/epidemiology , Meningomyelocele*/genetics, Animals ; Female ; Humans ; Male ; Mice ; DiGeorge Syndrome/genetics ; Exome Sequencing ; Folic Acid/administration & dosage ; Folic Acid Deficiency/complications ; Folic Acid Deficiency/genetics ; Penetrance ; Spinal Dysraphism/genetics ; Risk ; Adaptor Proteins, Signal Transducing/genetics

المؤلفون: Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. kimberly.aldinger@seattlechildrens.org.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. kimberly.aldinger@seattlechildrens.org., Thomson Z; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Phelps IG; Department of Pediatrics, University of Washington, Seattle, WA, USA., Haldipur P; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Deng M; Department of Pediatrics, University of Washington, Seattle, WA, USA., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Hirano M; Department of Electrical and Computer Engineering, University of Washington, Seattle, WA, USA., Santpere G; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, USA.; Neurogenomics Group, Research Programme on Biomedical Informatics, Hospital del Mar Medical Research Institute, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain., Roco C; Department of Bioengineering, University of Washington, Seattle, WA, USA., Rosenberg AB; Department of Electrical and Computer Engineering, University of Washington, Seattle, WA, USA., Lorente-Galdos B; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, USA., Gulden FO; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, USA., O'Day D; Department of Pediatrics, University of Washington, Seattle, WA, USA., Overman LM; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Lisgo SN; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Alexandre P; University College London Great Ormond Street Institute of Child Health, London, UK., Sestan N; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, USA., Doherty D; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA., Seelig G; Department of Electrical and Computer Engineering, University of Washington, Seattle, WA, USA.; School of Computer Science and Engineering, University of Washington, Seattle, WA, USA., Glass IA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA., Millen KJ; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. kathleen.millen@seattlechildrens.org.; Department of Pediatrics, University of Washington, Seattle, WA, USA. kathleen.millen@seattlechildrens.org.

المصدر: Nature neuroscience [Nat Neurosci] 2021 Aug; Vol. 24 (8), pp. 1163-1175. Date of Electronic Publication: 2021 Jun 17.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9809671 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1726 (Electronic) Linking ISSN: 10976256 NLM ISO Abbreviation: Nat Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Neurogenesis*, Cerebellum/*embryology, Fetus ; Humans ; Laser Capture Microdissection ; Single-Cell Analysis ; Transcriptome

المؤلفون: Epting D; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany., Senaratne LDS; Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway., Ott E; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany., Holmgren A; Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway., Sumathipala D; Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway., Larsen SM; Division of Pediatric and Adolescent Medicine, Oslo University Hospital, University of Oslo, Oslo, Norway., Wallmeier J; Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Münster, Germany., Bracht D; Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Münster, Germany., Frikstad KM; Department of Radiation Biology, Division of Cancer Medicine, Surgery and Transplantation, Institute for Cancer Research, Oslo University Hospitals-Norwegian Radium Hospital, Oslo, Norway., Crowley S; Division of Pediatric and Adolescent Medicine, Oslo University Hospital, University of Oslo, Oslo, Norway., Sikiric A; Department of Neurohabilitation, Oslo University Hospital, Oslo, Norway., Barøy T; Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway., Käsmann-Kellner B; Section of Pediatric Ophthalmology and Low Vision, Department of Ophthalmology, University of Saarland, Homburg, Germany., Decker E; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany., Decker C; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany., Bachmann N; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany., Patzke S; Department of Radiation Biology, Division of Cancer Medicine, Surgery and Transplantation, Institute for Cancer Research, Oslo University Hospitals-Norwegian Radium Hospital, Oslo, Norway., Phelps IG; Department of Pediatrics, Seattle Children's Research Institute, University of Washington, Seattle, Washington, USA., Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., Giles R; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands., Schmidts M; International Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands., Zucknick M; Oslo Centre for Biostatistics and Epidemiology, Institute for Basic Medical Sciences, University of Oslo, Oslo, Norway., Lienkamp SS; Institute of Anatomy, University of Zurich, Zurich, Switzerland., Omran H; Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Münster, Germany., Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., Doherty D; Department of Pediatrics, Seattle Children's Research Institute, University of Washington, Seattle, Washington, USA., Strømme P; Division of Pediatric and Adolescent Medicine, Oslo University Hospital, University of Oslo, Oslo, Norway., Frengen E; Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway., Bergmann C; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany.; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany., Misceo D; Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway.

المصدر: Human mutation [Hum Mutat] 2020 Dec; Vol. 41 (12), pp. 2179-2194. Date of Electronic Publication: 2020 Nov 01.

نوع المنشور: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Abnormalities, Multiple/*genetics , Carrier Proteins/*genetics , Cerebellum/*abnormalities , Ciliopathies/*genetics , Eye Abnormalities/*genetics , Kidney Diseases, Cystic/*genetics , Mutation/*genetics , Nuclear Proteins/*genetics , Retina/*abnormalities, Abnormalities, Multiple/diagnostic imaging ; Abnormalities, Multiple/pathology ; Adolescent ; Animals ; Cerebellum/diagnostic imaging ; Cerebellum/pathology ; Child ; Child, Preschool ; Cilia/metabolism ; Cilia/pathology ; Ciliopathies/diagnostic imaging ; Ciliopathies/pathology ; Eye Abnormalities/diagnostic imaging ; Eye Abnormalities/pathology ; Female ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Kidney Diseases, Cystic/diagnostic imaging ; Kidney Diseases, Cystic/pathology ; Magnetic Resonance Imaging ; Male ; Pedigree ; Phenotype ; Retina/diagnostic imaging ; Retina/pathology ; Smoothened Receptor/metabolism ; Young Adult ; Zebrafish/genetics

SCR Disease Name: Agenesis of Cerebellar Vermis

المؤلفون: Phelps IG; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Dempsey JC; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Grout ME; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Isabella CR; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Tully HM; Department of Neurology, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Doherty D; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Bachmann-Gagescu R; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Institute of Molecular Life Sciences, University of Zurich, Zurich, Switzerland.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Feb; Vol. 20 (2), pp. 223-233. Date of Electronic Publication: 2017 Aug 03.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Genes, Recessive* , Genetic Association Studies*/methods , Genetic Predisposition to Disease* , Genetic Variation*, Genetic Diseases, Inborn/*diagnosis , Genetic Diseases, Inborn/*genetics, Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Alleles ; Cerebellum/abnormalities ; Eye Abnormalities/diagnosis ; Eye Abnormalities/genetics ; Genes, Modifier ; Humans ; Kidney Diseases, Cystic/diagnosis ; Kidney Diseases, Cystic/genetics ; Models, Genetic ; Multifactorial Inheritance ; Mutation ; Phenotype ; Retina/abnormalities

SCR Disease Name: Agenesis of Cerebellar Vermis

المؤلفون: Vilboux T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Inova Translational Medicine Institute, Falls Church, Virginia, USA., Doherty DA; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Glass IA; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Parisi MA; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Phelps IG; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Cullinane AR; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Department of Anatomy, Howard University College of Medicine, Washington DC, USA., Zein W; Ophthalmic Genetics &Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA., Brooks BP; Ophthalmic Genetics &Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA., Heller T; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland, USA., Soldatos A; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Oden NL; The EMMES Corporation, Rockville, Maryland, USA., Yildirimli D; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Vemulapalli M; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Mullikin JC; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Nisc Comparative Sequencing Program; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Malicdan MCV; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Gunay-Aygun M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2017 Aug; Vol. 19 (8), pp. 875-882. Date of Electronic Publication: 2017 Jan 26.

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: Molecular Diagnostic Techniques*, Abnormalities, Multiple/*diagnosis , Abnormalities, Multiple/*genetics , Cerebellum/*abnormalities , Eye Abnormalities/*diagnosis , Eye Abnormalities/*genetics , Kidney Diseases, Cystic/*diagnosis , Kidney Diseases, Cystic/*genetics , Retina/*abnormalities, Abnormalities, Multiple/physiopathology ; Adolescent ; Adult ; Cerebellum/physiopathology ; Child ; Child, Preschool ; Cohort Studies ; Coloboma/diagnosis ; Coloboma/genetics ; Eye Abnormalities/physiopathology ; Female ; Humans ; Infant ; Kidney Diseases/diagnosis ; Kidney Diseases/genetics ; Kidney Diseases, Cystic/physiopathology ; Liver Diseases/diagnosis ; Liver Diseases/genetics ; Male ; Molecular Probes ; Prospective Studies ; Retina/physiopathology ; Retinal Degeneration/diagnosis ; Retinal Degeneration/genetics ; Whole Genome Sequencing ; Young Adult

SCR Disease Name: Agenesis of Cerebellar Vermis

المؤلفون: Van De Weghe JC; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Rusterholz TDS; Institute of Molecular Life Sciences, University of Zurich, 8057 Zurich, Switzerland., Latour B; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Grout ME; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Aldinger KA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia., Dempsey JC; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia., Cheng YH; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Phelps IG; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Gesemann M; Institute of Molecular Life Sciences, University of Zurich, 8057 Zurich, Switzerland., Goel H; Hunter Genetics, Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia., Birk OS; Genetics Institute, Soroka Medical Center and National Institute for Biotechnology in the Negev (NIBN), Ben Gurion University, Beer Sheva 8499000, Israel., Alanzi T; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia., Rawashdeh R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia., Khan AO; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Neuhauss SCF; Institute of Molecular Life Sciences, University of Zurich, 8057 Zurich, Switzerland., Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Neurology, University of Washington, Seattle, WA 98195, USA., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12371, Saudi Arabia., Roepman R; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Bachmann-Gagescu R; Institute of Molecular Life Sciences, University of Zurich, 8057 Zurich, Switzerland; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland. Electronic address: ruxandra.bachmann@imls.uzh.ch., Doherty D; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA. Electronic address: ddoher@uw.edu.

مؤلفون مشاركون: University of Washington Center for Mendelian Genomics

المصدر: American journal of human genetics [Am J Hum Genet] 2017 Jul 06; Vol. 101 (1), pp. 23-36. Date of Electronic Publication: 2017 Jun 15.

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: Abnormalities, Multiple/*genetics , Armadillo Domain Proteins/*genetics , Basal Bodies/*metabolism , Cerebellum/*abnormalities , Ciliopathies/*genetics , Eye Abnormalities/*genetics , Kidney Diseases, Cystic/*genetics , Mutation/*genetics , Retina/*abnormalities , Zebrafish/*genetics , Zebrafish Proteins/*genetics, Abnormalities, Multiple/pathology ; Animals ; Armadillo Domain Proteins/metabolism ; Base Sequence ; Brain/pathology ; Cerebellum/pathology ; Cilia/metabolism ; Ciliopathies/pathology ; Diagnostic Imaging ; Exome/genetics ; Eye Abnormalities/pathology ; Genetic Predisposition to Disease ; Humans ; Kidney Diseases, Cystic/pathology ; Phenotype ; Retina/pathology ; Sequence Analysis, DNA ; Up-Regulation/genetics ; Zebrafish Proteins/metabolism

SCR Disease Name: Agenesis of Cerebellar Vermis

المؤلفون: Dempsey JC; Department of Pediatrics, University of Washington, Seattle, Washington., Phelps IG; Department of Pediatrics, University of Washington, Seattle, Washington., Bachmann-Gagescu R; Institute for Molecular Life Sciences and Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Glass IA; Department of Pediatrics, University of Washington, Seattle, Washington.; Seattle Children's Research Institute, Seattle, Washington., Tully HM; Seattle Children's Research Institute, Seattle, Washington.; Department of Neurology, University of Washington, Seattle, Washington., Doherty D; Department of Pediatrics, University of Washington, Seattle, Washington.; Seattle Children's Research Institute, Seattle, Washington.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2017 May; Vol. 173 (5), pp. 1237-1242. Date of Electronic Publication: 2017 Mar 28.

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: Abnormalities, Multiple/*mortality , Cerebellum/*abnormalities , Eye Abnormalities/*mortality , Kidney Diseases, Cystic/*mortality , Renal Insufficiency/*mortality , Retina/*abnormalities, Abnormalities, Multiple/genetics ; Abnormalities, Multiple/physiopathology ; Adolescent ; Cerebellum/physiopathology ; Child ; Child, Preschool ; Eye Abnormalities/complications ; Eye Abnormalities/genetics ; Eye Abnormalities/physiopathology ; Female ; Humans ; Kidney Diseases, Cystic/complications ; Kidney Diseases, Cystic/genetics ; Kidney Diseases, Cystic/physiopathology ; Male ; Renal Insufficiency/complications ; Renal Insufficiency/genetics ; Renal Insufficiency/pathology ; Retina/physiopathology ; Rhombencephalon/abnormalities ; Rhombencephalon/physiopathology

SCR Disease Name: Agenesis of Cerebellar Vermis