المؤلفون: Gargano Mauro, Gasperini Antonella, Schiavone Luisa, Brunetti Francesca

المصدر: EPJ Web of Conferences, Vol 186, p 07002 (2018)

مصطلحات موضوعية: Physics, QC1-999

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2100-014X

URL الوصول: https://doaj.org/article/d532b900813f4b8f859cac4fb212ebe2

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Niyonkuru E; Trinity College, Hartford, CT, USA.; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA., Caufield JH; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, 94720, USA., Carmody LC; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA., Gargano MA; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA., Toro S; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Whetzel PL; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Blau H; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA., Gomez MS; AnacletoLab, Computer Science Department, Dipartimento di Informatica, Università degli Studi di Milano, Milan, 20133, Italy., Casiraghi E; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, 94720, USA.; AnacletoLab, Computer Science Department, Dipartimento di Informatica, Università degli Studi di Milano, Milan, 20133, Italy., Chimirri L; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany., Reese JT; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, 94720, USA., Valentini G; AnacletoLab, Computer Science Department, Dipartimento di Informatica, Università degli Studi di Milano, Milan, 20133, Italy., Haendel MA; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, 94720, USA., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany.

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Aug 22. Date of Electronic Publication: 2024 Aug 22.

نوع المنشور: Journal Article; Preprint

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

المؤلفون: Sundaramurthi JC; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA., Bagley AM; Shriners Children's Northern California, Sacramento, California 95817, USA., Blau H; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA., Carmody L; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA., Crandall A; Shriners Children's, Portland, Oregon 97239, USA., Danis D; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA., Gargano MA; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA., Gustafson AG; Shriners Children's Genomics Institute, Tampa, Florida 33612, USA., Raney EM; Shriners Children's, Portland, Oregon 97239, USA., Shingle M; Shriners Children's Northern California, Sacramento, California 95817, USA., Davids JR; Shriners Children's Northern California, Sacramento, California 95817, USA.; Department of Orthopaedic Surgery, University of California Davis Health, Sacramento, California 95817, USA., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA; peter.robinson@jax.org.; Institute for Systems Genomics, University of Connecticut, Farmington, Connecticut 06032, USA.

المصدر: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2024 Jan 10; Vol. 9 (4). Date of Electronic Publication: 2024 Jan 10 (Print Publication: 2023).

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

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE

مواضيع طبية MeSH: Cerebral Palsy*/genetics , Intellectual Disability*/genetics , Nervous System Malformations* , TRPM Cation Channels*/genetics, Humans ; Mutation, Missense/genetics ; Phenotype

المؤلفون: Gargano MA; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Matentzoglu N; Semanticly, Athens, Greece., Coleman B; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Addo-Lartey EB; Rare Disease Ghana Initiative, Accra, Ghana., Anagnostopoulos AV; The Jackson Laboratory, Bar Harbor, ME, USA., Anderton J; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Avillach P; Harvard Medical School, Boston, MA, USA., Bagley AM; Shriners Children's Northern California, Sacramento, CA, USA., Bakštein E; National Institute of Mental Health, Klecany, Czech Republic., Balhoff JP; Renaissance Computing Institute, University of North Carolina, Chapel Hill, NC 27517, USA., Baynam G; Rare Care Centre, Perth Children's Hospital, Perth, Australia., Bello SM; The Jackson Laboratory, Bar Harbor, ME, USA., Berk M; Deakin University, IMPACT - the Institute for Mental and Physical Health and Clinical Translation, School of Medicine, Barwon Health, Geelong, Australia., Bertram H; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Bishop S; Department of Psychiatry and Behavioral Sciences, UCSF Weil Institute for Neuroscience, San Francisco, CA, USA., Blau H; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Bodenstein DF; Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada., Botas P; Nostos Genomics GmbH, Berlin, Germany., Boztug K; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria., Čady J; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., Callahan TJ; Department of Biomedical Informatics, Columbia University Irving Medical Center, NY, NY, USA., Cameron R; Simon Fraser University, Burnaby, BC, Canada., Carbon SJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Castellanos F; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Caufield JH; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Chan LE; College of Public Health and Human Sciences, Oregon State University, Corvallis, OR 97331, USA., Chute CG; Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD 21287, USA., Cruz-Rojo J; UDISGEN (Dysmorphology and Genetics Unit), 12 de Octubre Hospital, Madrid, Spain., Dahan-Oliel N; Department of Clinical Research, Shriners Hospitals for Children, Montreal, Quebec, Canada., Davids JR; Shriners Children's Northern California, Sacramento, CA, USA., de Dieuleveult M; Département I&D, AP-HP, Banque Nationale de Données Maladies Rares, Paris, France., de Souza V; European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton CB10 1SD, UK., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., de Vries E; Tranzo, TSB, Tilburg University, Netherlands., DePaulo JR; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Derfalvi B; Department of Pediatrics, Dalhousie University, Halifax, NS, Canada., Dhombres F; Fetal Medicine Department, Armand Trousseau Hospital, Sorbonne University, GRC26, INSERM, Limics, Paris, France., Diaz-Byrd C; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Donadille B; St Antoine Hospital, Reference Center for Rare Growth Endocrine Disorders, Sorbonne University, AP-HP, INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Duyzend M; Massachusetts General Hospital, Boston, MA, USA., Elfeky R; Department of Immunology, GOS Hospital for Children NHS Foundation Trust, University College London, London, UK., Essaid S; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Fabrizzi C; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Fico G; Bipolar and Depressive Disorders Unit, Institute of Neuroscience, Hospital Clinic, University of Barcelona, IDIBAPS, CIBERSAM, Barcelona, Catalonia, Spain., Firth HV; Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Freudenberg-Hua Y; Department of Psychiatry, Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, USA., Fullerton JM; Neuroscience Research Australia, Sydney, NSW, Australia., Gabriel DL; School of Medicine, Johns Hopkins University, Baltimore, MD 21287, USA., Gilmour K; Immunology, NIHR Great Ormond Street Hospital BRC, London, UK., Giordano J; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA., Goes FS; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Moses RG; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Green I; SNOMED International, London W2 6BD, UK., Griese M; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany., Groza T; Rare Care Centre, Perth Children's Hospital, Perth, Australia., Gu W; Chinese HPO Consortium, Beijing, China., Guthrie J; Department of Structural and Computational Biology, University of Vienna; Max Perutz Labs, Vienna, Austria., Gyori B; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Hamosh A; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Hanauer M; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Hanušová K; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., He YO; University of Michigan Medical School, Ann Arbor, MI, USA., Hegde H; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Helbig I; Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Holasová K; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., Hoyt CT; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Huang S; Chinese HPO Consortium, Beijing, China., Hurwitz E; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, UK., Jiang X; Chinese HPO Consortium, Beijing, China., Joseph L; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA., Keramatian K; Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada., King B; Department of Psychiatry and Behavioral Sciences, UCSF Weil Institute for Neuroscience, San Francisco, CA, USA., Knoflach K; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Kraus ML; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Kroll C; William Harvey Research Institute, Queen Mary University of London, London, UK., Kusters M; Immunology, NIHR Great Ormond Street Hospital BRC, London, UK., Ladewig MS; Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany., Lagorce D; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Lai MC; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Lapunzina P; Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain., Laraway B; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Lewis-Smith D; Translational and Clinical Research Institute, Henry Wellcome Building, Framlington Place, Newcastle University, Newcastle-Upon-Tyne NE14LP, UK., Li X; Chinese HPO Consortium, Beijing, China., Lucano C; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Majd M; Department of Psychiatry, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Martinez-Glez V; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Sabadell, Spain., McHenry TH; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., McInnis MG; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., McMurry JA; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Mihulová M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Millett CE; Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, USA., Mitchell PB; Discipline of Psychiatry & Mental Health, School of Clinical Medicine, Faculty of Medicine & Health, University of New South Wales, Sydney, NSW, Australia., Moslerová V; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Narutomi K; Okinawa Prefectural Nanbu Medical Center & Children's Medical Center., Nematollahi S; School of Physical and Occupational Therapy, McGill University, Montreal, Quebec, Canada., Nevado J; Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain., Nierenberg AA; Dauten Family Center for Bipolar Treatment Innovation, Massachusetts General Hospital, Boston, MA, USA., Čajbiková NN; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Nurnberger JI Jr; Stark Neurosciences Research Institute, Departments of Psychiatry and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Ogishima S; INGEM/ToMMo, Tohoku University, Sendai, Japan., Olson D; Data Collaboration Center, Data Science, Critical Path Institute, Tucson, AZ, USA., Ortiz A; Department of Psychiatry, University of Toronto, Toronto, ON, Canada., Pachajoa H; Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia., Perez de Nanclares G; Molecular (epi) genetics lab, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain., Peters A; Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA., Putman T; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Rapp CK; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany., Rath A; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Reese J; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Rekerle L; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Roberts AM; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London W12 0HS, UK., Roy S; SNOMED International, London W2 6BD, UK., Sanders SJ; Department of Paediatrics, Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK., Schuetz C; Universitätsklinikum Carl Gustav Carus, Medizinische Fakultät, TU, Dresden, Germany., Schulte EC; Institute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital, LMU Munich, Munich, Germany., Schulze TG; Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, USA., Schwarz M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Scott K; Department of Psychiatry, Dalhousie University, Halifax, NS, Canada., Seelow D; Exploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung - Charité, Berlin, Germany., Seitz B; Department of Ophthalmology, Saarland University Medical Center UKS, Homburg/Saar, Germany., Shen Y; Chinese HPO Consortium, Beijing, China., Similuk MN; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Simon ES; Eisenberg Family Depression Center, University of Michigan, Ann Arbor, MI, USA., Singh B; Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA., Smedley D; William Harvey Research Institute, Queen Mary University of London, London, UK., Smith CL; The Jackson Laboratory, Bar Harbor, ME, USA., Smolinsky JT; Human Genetics Institute of New Jersey, Rutgers University, Piscataway, NJ, USA., Sperry S; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Stafford E; The National Alliance on Mental Illness, Arlington, VA, USA., Stefancsik R; European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton CB10 1SD, UK., Steinhaus R; Exploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung - Charité, Berlin, Germany., Strawbridge R; Department of Psychological Medicine, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Sundaramurthi JC; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Talapova P; Institute for Research and Health Policy Studies, Tufts Medicine, Boston, MA 2111, USA., Tenorio Castano JA; Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain., Tesner P; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Thomas RH; Translational and Clinical Research Institute, Henry Wellcome Building, Framlington Place, Newcastle University, Newcastle-Upon-Tyne NE14LP, UK., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA., Turnovec M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., van Gijn ME; Department of Genetics, University Medical Center Groningen, Groningen, Netherlands., Vasilevsky NA; Critical Path Institute, Tucson, AZ, USA., Vlčková M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Walden A; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Wang K; Chinese HPO Consortium, Beijing, China., Wapner R; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA., Ware JS; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London W12 0HS, UK., Wiafe AA; Rare Disease Ghana Initiative, Accra, Ghana., Wiafe SA; Rare Disease Ghana Initiative, Accra, Ghana., Wiggins LD; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA., Williams AE; Institute for Research and Health Policy Studies, Tufts Medicine, Boston, MA 2111, USA., Wu C; Chinese HPO Consortium, Beijing, China., Wyrwoll MJ; Centre for Regenerative Medicine, Institute for Regeneration and Repair, Institute for Stem Cell Research, University of Edinburgh, Edinburgh, UK., Xiong H; Chinese HPO Consortium, Beijing, China., Yalin N; Department of Psychological Medicine, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Yamamoto Y; Database Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Japan., Yatham LN; Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada., Yocum AK; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Young AH; Psychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London & South London and Maudsley NHS Foundation Trust, Bethlem Royal Hospital, Monks Orchard Road, Beckenham, Kent, London SE5 8AF, UK., Yüksel Z; Department of Human Genetics, Bioscientia Healthcare GmbH, Ingelheim, Germany., Zandi PP; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Zankl A; Faculty of Medicine and Health, The University of Sydney, Camperdown, Australia., Zarante I; Institute of Human Genetics, Pontificia Universidad Javeriana, Bogotá, Colombia., Zvolský M; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., Toro S; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Carmody LC; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Harris NL; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Munoz-Torres MC; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Danis D; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Köhler S; Ada Health GmbH, Berlin, Germany., Haendel MA; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.

المصدر: Nucleic acids research [Nucleic Acids Res] 2024 Jan 05; Vol. 52 (D1), pp. D1333-D1346.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

مواضيع طبية MeSH: Biological Ontologies*, Humans ; Phenotype ; Genomics ; Algorithms ; Rare Diseases

المؤلفون: Carmody LC; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Gargano MA; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Toro S; University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Vasilevsky NA; Critical Path Institute, Tucson, AZ, USA., Adam MP; University of Washington School of Medicine, Seattle, WA, USA., Blau H; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Chan LE; Oregon State University, Corvallis, OR, USA., Gomez-Andres D; Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Robinson Way, Cambridge CB2 0PY, UK., Kraus ML; University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Ladewig MS; Department of Ophthalmology, Klinikum Saarbrücken, Saarbrücken, Germany., Lewis-Smith D; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Ottowa, Canada; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Centro Nacional de Análisis Genómico, Barcelona, Spain., Matentzoglu NA; Semanticly, Athens, Attiki, Greece., Munoz-Torres MC; University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Schuetz C; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Seitz B; Department of Ophthalmology, Saarland University Medical Center UKS, Homburg, Saar, Germany., Similuk MN; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Sparks TN; Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, San Francisco, CA 94143, USA., Strauss T; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Swietlik EM; Department of Medicine, University of Cambridge, Heart and Lung Research Institute, Cambridge CB2 0BB, UK., Thompson R; Children's Hospital of Eastern Ontario Research Institute, Ottowa, Canada., Zhang XA; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Mungall CJ; Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Haendel MA; University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA. Electronic address: peter.robinson@jax.org.

المصدر: Med (New York, N.Y.) [Med] 2023 Dec 08; Vol. 4 (12), pp. 913-927.e3. Date of Electronic Publication: 2023 Nov 13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101769215 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-6340 (Electronic) Linking ISSN: 26666340 NLM ISO Abbreviation: Med Subsets: MEDLINE

مواضيع طبية MeSH: Biological Ontologies*, Humans ; Rare Diseases ; Software ; Computer Simulation

المؤلفون: Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, UK. j.jacobsen@qmul.ac.uk., Baudis M; Department of Molecular Life Sciences, University of Zurich, Zürich, Switzerland.; Computational Oncogenomics Group, Swiss Institute of Bioinformatics, Zürich, Switzerland., Baynam GS; Western Australian Register of Developmental Anomalies and Genetic Services of WA, King Edward Memorial Hospital, Perth, Western Australia, Australia.; Faculty of Health and Medical Sciences, Division of Paediatrics, University of Western Australia, Perth, Western Australia, Australia.; Genetic and Rare Diseases, Telethon Kids Institute, Perth, Western Australia, Australia., Beckmann JS; Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland., Beltran S; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain., Buske OJ; PhenoTips, Toronto, Ontario, Canada., Callahan TJ; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Chute CG; Schools of Medicine, Public Health, and Nursing, Baltimore, Johns Hopkins University, Baltimore, MD, USA., Courtot M; European Bioinformatics Institute, European Molecular Biology Laboratory (EMBL-EBI), Hinxton, UK.; Genome Informatics, Ontario Institute for Cancer Research, Toronto, Ontario, Canada., Danis D; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA., Elemento O; Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA., Essenwanger A; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Freimuth RR; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN, USA., Gargano MA; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA., Groza T; EMBL-EBI, Cambridge, UK., Hamosh A; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Harris NL; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Kaliyaperumal R; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Lloyd KCK; Mouse Biology Program, University of California Davis, Davis, CA, USA.; Department of Surgery, University of California Davis School of Medicine, Sacramento, CA, USA., Khalifa A; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN, USA., Krawitz PM; University Hospital Bonn, Bonn, Germany, and Institute for Genomic Statistics and Bioinformatics, Bonn, Germany., Köhler S; Ada Health GmbH, Berlin, Germany., Laraway BJ; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Lehväslaiho H; Sensitive Data Services, CSC-IT Center for Science, Espoo, Finland., Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain., McMurry JA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Metke-Jimenez A; The Australian e-Health Research Centre, CSIRO, Herston, Queensland, Australia., Mungall CJ; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Munoz-Torres MC; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Ogishima S; Tohoku University, INGEM, Sendai, Japan., Papakonstantinou A; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain., Piscia D; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain., Pontikos N; Institute of Ophthalmology, University College London, London, UK.; Genetics Service, Moorfields Eye Hospital, London, UK., Queralt-Rosinach N; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Roos M; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Sass J; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Schofield PN; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK.; Mammalian Genetics, The Jackson Laboratory, Bar Harbor, ME, USA.; The Alan Turing Institute, London, UK., Seelow D; Bioinformatics and Translational Genetics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Siapos A; Lifebit Biotech Ltd., London, UK., Smedley D; William Harvey Research Institute, Queen Mary University of London, London, UK., Smith LD; Genome Informatics, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.; Global Alliance for Genomics and Health, N/A, Toronto, Ontario, Canada., Steinhaus R; Bioinformatics and Translational Genetics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Sundaramurthi JC; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA., Swietlik EM; 40Medicine Department, University of Cambridge, Cambridge, UK.; Respiratory Medicine Department, Addenbrooke's Hospital, Cambridge, UK.; Cambridge Centre for Lung Infection, Royal Papworth Hospital, Cambridge, UK., Thun S; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Vasilevsky NA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Wagner AH; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., Warner JL; Departments of Medicine and Biomedical Informatics, Vanderbilt University, Nashville, TN, USA., Weiland C; Senckenberg-Leibniz Institution for Biodiversity and Earth System Research, Data and Modelling Centre, Frankfurt/Main, Germany., Haendel MA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. melissa@tislab.org., Robinson PN; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA. peter.robinson@jax.org.; Institute for Systems Genomics, University of Connecticut, Farmington, CT, USA. peter.robinson@jax.org.

مؤلفون مشاركون: GAGH Phenopacket Modeling Consortium

المصدر: Nature biotechnology [Nat Biotechnol] 2022 Jun; Vol. 40 (6), pp. 817-820.

نوع المنشور: Letter

بيانات الدورية: Publisher: Nature America Publishing Country of Publication: United States NLM ID: 9604648 Publication Model: Print Cited Medium: Internet ISSN: 1546-1696 (Electronic) Linking ISSN: 10870156 NLM ISO Abbreviation: Nat Biotechnol Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Danis D, Jacobsen JOB, Carmody LC, Gargano MA, McMurry JA, Hegde A, Haendel MA, Valentini G, Smedley D, Robinson PN

المصدر: American journal of human genetics [Am J Hum Genet] 2021 Nov 04; Vol. 108 (11), pp. 2205.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06032, USA. Electronic address: peter.robinson@jax.org., Ravanmehr V; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA., Jacobsen JOB; William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK., Danis D; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA., Zhang XA; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA., Carmody LC; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA., Gargano MA; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA., Thaxton CL; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Karlebach G; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA., Reese J; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Holtgrewe M; Charité Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany., Köhler S; Charité Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany., McMurry JA; Oregon State University, Corvallis, OR 97331, USA., Haendel MA; Oregon State University, Corvallis, OR 97331, USA., Smedley D; William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.

مؤلفون مشاركون: UNC Biocuration Core; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.

المصدر: American journal of human genetics [Am J Hum Genet] 2020 Sep 03; Vol. 107 (3), pp. 403-417. Date of Electronic Publication: 2020 Aug 04.

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

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: Computational Biology* , Databases, Genetic* , Genomics*, Rare Diseases/*diagnosis, Algorithms ; Exome/genetics ; Humans ; Phenotype ; Rare Diseases/genetics ; Software

المؤلفون: Dumas J; College of Computing and Digital Media, DePaul University, Chicago, IL, USA., Gargano MA; Department of Mathematics and Computer Science, Eastern Connecticut State University, Willimantic, CT, USA., Dancik GM; Department of Mathematics and Computer Science, Eastern Connecticut State University, Willimantic, CT, USA.

المصدر: Bioinformatics (Oxford, England) [Bioinformatics] 2016 Dec 01; Vol. 32 (23), pp. 3679-3681. Date of Electronic Publication: 2016 Aug 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9808944 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1367-4811 (Electronic) Linking ISSN: 13674803 NLM ISO Abbreviation: Bioinformatics Subsets: MEDLINE

مواضيع طبية MeSH: Databases, Genetic* , Gene Expression* , Internet*, Computational Biology/*methods, Computer Graphics ; Gene Expression Profiling ; Humans ; Oligonucleotide Array Sequence Analysis