المؤلفون: Smith, EN, Ghia, EM, DeBoever, CM, Rassenti, LZ, Jepsen, K, Yoon, K-A, Matsui, H, Rozenzhak, S, Alakus, H, Shepard, PJ, Dai, Y, Khosroheidari, M, Bina, M, Gunderson, KL, Messer, K, Muthuswamy, L, Hudson, TJ, Harismendy, O, Barrett, CL, Jamieson, CHM, Carson, DA, Kipps, TJ, Frazer, KA

المصدر: Blood cancer journal. 5(4)

مصطلحات موضوعية: Humans, Disease Progression, DNA Methylation, Epigenesis, Genetic, CpG Islands, Mutation, Leukemia, Lymphocytic, Chronic, B-Cell, Clonal Evolution, Polycomb-Group Proteins, Lymphoma, Human Genome, Rare Diseases, Cancer, Genetics, Hematology, 2.1 Biological and endogenous factors, Cardiorespiratory Medicine and Haematology, Oncology and Carcinogenesis

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/88g972xg

المؤلفون: Shepard, PJ, Barshop, BA, Baumgartner, MR, Jepsen, K, Hansen, John-Bjarne, Smith, EN, Frazer, Kelly

المصدر: Shepard, Barshop, Baumgartner, Jepsen, Hansen JB, Smith E, Frazer K. Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. Genetics in Medicine. 2015;17(8):660-667

Relation: Genetics in Medicine

الإتاحة: https://hdl.handle.net/10037/25172

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المؤلفون: Balik-Meisner MR; 1Sciome, LLC, Research Triangle Park, North Carolina., Mav D; 1Sciome, LLC, Research Triangle Park, North Carolina., Phadke DP; 1Sciome, LLC, Research Triangle Park, North Carolina., Everett LJ; 1Sciome, LLC, Research Triangle Park, North Carolina., Shah RR; 1Sciome, LLC, Research Triangle Park, North Carolina., Tal T; 2National Health and Environmental Effects Research Laboratory, Office of Research and Development, U.S. Environmental Protection Agency, Research Triangle Park, North Carolina., Shepard PJ; 3BioSpyder Technologies, Incorporated, Carlsbad, California., Merrick BA; 4Division of the National Toxicology Program, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina., Paules RS; 4Division of the National Toxicology Program, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina.

المصدر: Zebrafish [Zebrafish] 2019 Aug; Vol. 16 (4), pp. 331-347. Date of Electronic Publication: 2019 Jun 12.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural

بيانات الدورية: Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101225070 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-8542 (Electronic) Linking ISSN: 15458547 NLM ISO Abbreviation: Zebrafish Subsets: MEDLINE

مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing* , Transcriptome*, Computational Biology/*methods , Gene Expression Profiling/*methods , Zebrafish/*genetics, Animals ; Databases, Genetic ; Reproducibility of Results

المؤلفون: Trejo CL; BioSpyder Technologies, Inc., Carlsbad, California, United States of America., Babić M; BioSpyder Technologies, Inc., Carlsbad, California, United States of America., Imler E; BioSpyder Technologies, Inc., Carlsbad, California, United States of America., Gonzalez M; BioSpyder Technologies, Inc., Carlsbad, California, United States of America., Bibikov SI; BioSpyder Technologies, Inc., Carlsbad, California, United States of America., Shepard PJ; BioSpyder Technologies, Inc., Carlsbad, California, United States of America., VanSteenhouse HC; BioSpyder Technologies, Inc., Carlsbad, California, United States of America., Yeakley JM; BioSpyder Technologies, Inc., Carlsbad, California, United States of America., Seligmann BE; BioSpyder Technologies, Inc., Carlsbad, California, United States of America.

المصدر: PloS one [PLoS One] 2019 Feb 22; Vol. 14 (2), pp. e0212031. Date of Electronic Publication: 2019 Feb 22 (Print Publication: 2019).

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Gene Expression Profiling/*methods , Exome Sequencing/*methods, Animals ; Cell Line, Tumor ; Formaldehyde ; Gene Expression Regulation ; Humans ; MCF-7 Cells ; Mice ; Paraffin Embedding ; Rats ; Reproducibility of Results ; Tissue Fixation

المؤلفون: Limonciel A; Division of Molecular and Computational Toxicology, Amsterdam Institute for Molecules, Medicines and Systems, Vrije Universiteit Amsterdam, De Boelelaan 1108, 1081 HZ, Amsterdam, The Netherlands.; Division of Physiology, Department of Physiology and Medical Physics, Medical University of Innsbruck, 6020, Innsbruck, Austria., Ates G; Department of In Vitro Toxicology and Dermato-Cosmetology, Vrije Universiteit Brussel, Laarbeeklaan 103, 1090, Brussels, Belgium., Carta G; Division of Molecular and Computational Toxicology, Amsterdam Institute for Molecules, Medicines and Systems, Vrije Universiteit Amsterdam, De Boelelaan 1108, 1081 HZ, Amsterdam, The Netherlands.; Division of Physiology, Department of Physiology and Medical Physics, Medical University of Innsbruck, 6020, Innsbruck, Austria., Wilmes A; Division of Molecular and Computational Toxicology, Amsterdam Institute for Molecules, Medicines and Systems, Vrije Universiteit Amsterdam, De Boelelaan 1108, 1081 HZ, Amsterdam, The Netherlands.; Division of Physiology, Department of Physiology and Medical Physics, Medical University of Innsbruck, 6020, Innsbruck, Austria., Watzele M; Roche Diagnostics GmbH, Nonnenwald 2, 82377, Penzberg, Germany., Shepard PJ; BioSpyder Technologies, Inc., 5922 Farnsworth Ct Ste 102, Carlsbad, CA, 92008, USA., VanSteenhouse HC; BioSpyder Technologies, Inc., 5922 Farnsworth Ct Ste 102, Carlsbad, CA, 92008, USA., Seligmann B; BioSpyder Technologies, Inc., 5922 Farnsworth Ct Ste 102, Carlsbad, CA, 92008, USA., Yeakley JM; BioSpyder Technologies, Inc., 5922 Farnsworth Ct Ste 102, Carlsbad, CA, 92008, USA., van de Water B; Division of Toxicology, Leiden Academic Center for Drug Research, Leiden University, PO Box 9503, 2300 RA, Leiden, The Netherlands., Vinken M; Department of In Vitro Toxicology and Dermato-Cosmetology, Vrije Universiteit Brussel, Laarbeeklaan 103, 1090, Brussels, Belgium. mvinken@vub.ac.be., Jennings P; Division of Molecular and Computational Toxicology, Amsterdam Institute for Molecules, Medicines and Systems, Vrije Universiteit Amsterdam, De Boelelaan 1108, 1081 HZ, Amsterdam, The Netherlands. p.jennings@vu.nl.; Division of Physiology, Department of Physiology and Medical Physics, Medical University of Innsbruck, 6020, Innsbruck, Austria. p.jennings@vu.nl.

المصدر: Archives of toxicology [Arch Toxicol] 2018 Aug; Vol. 92 (8), pp. 2517-2531. Date of Electronic Publication: 2018 Jul 14.

نوع المنشور: Comparative Study; Journal Article

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0417615 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0738 (Electronic) Linking ISSN: 03405761 NLM ISO Abbreviation: Arch Toxicol Subsets: MEDLINE

مواضيع طبية MeSH: Gene Expression Profiling/*methods , Kidney/*cytology , Liver/*cytology , Toxicity Tests/*methods , Transcriptome/*drug effects, Bromates/toxicity ; Cell Differentiation/drug effects ; Cell Line ; Cyclosporine/toxicity ; Dose-Response Relationship, Drug ; Gene Expression Regulation/drug effects ; Humans ; Ochratoxins/toxicity ; Valproic Acid/toxicity

المؤلفون: Yeakley JM; BioSpyder Technologies, Incorporated, Carlsbad, California, United States of America., Shepard PJ; BioSpyder Technologies, Incorporated, Carlsbad, California, United States of America., Goyena DE; BioSpyder Technologies, Incorporated, Carlsbad, California, United States of America., VanSteenhouse HC; BioSpyder Technologies, Incorporated, Carlsbad, California, United States of America., McComb JD; BioSpyder Technologies, Incorporated, Carlsbad, California, United States of America., Seligmann BE; BioSpyder Technologies, Incorporated, Carlsbad, California, United States of America.

المصدر: PloS one [PLoS One] 2017 May 25; Vol. 12 (5), pp. e0178302. Date of Electronic Publication: 2017 May 25 (Print Publication: 2017).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Gene Expression Profiling/*methods , Hydroxamic Acids/*metabolism, Humans ; Hydroxamic Acids/analysis ; MCF-7 Cells/chemistry ; MCF-7 Cells/metabolism ; Reproducibility of Results ; Sensitivity and Specificity

المؤلفون: Panopoulos AD; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA; Department of Biological Sciences, University of Notre Dame, Notre Dame, IN 46556, USA., Smith EN; Pediatrics and Rady Children's Hospital, University of California, San Diego, La Jolla, CA 92093, USA., Arias AD; Pediatrics and Rady Children's Hospital, University of California, San Diego, La Jolla, CA 92093, USA., Shepard PJ; Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA; BioSpyder Technologies, Inc., Carlsbad, CA 92008, USA., Hishida Y; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA., Modesto V; Stem Cell Core, Salk Institute for Biological Studies, La Jolla, CA 92037, USA., Diffenderfer KE; Stem Cell Core, Salk Institute for Biological Studies, La Jolla, CA 92037, USA., Conner C; Department of Biological Sciences, University of Notre Dame, Notre Dame, IN 46556, USA., Biggs W; Human Longevity, Inc., San Diego, CA 92121, USA., Sandoval E; Human Longevity, Inc., San Diego, CA 92121, USA., D'Antonio-Chronowska A; Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA., Berggren WT; Stem Cell Core, Salk Institute for Biological Studies, La Jolla, CA 92037, USA., Izpisua Belmonte JC; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA. Electronic address: belmonte@salk.edu., Frazer KA; Pediatrics and Rady Children's Hospital, University of California, San Diego, La Jolla, CA 92093, USA; Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA; Bioinformatics and Systems Biology Program, University of California, San Diego, La Jolla, CA 92093, USA; Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address: kafrazer@ucsd.edu.

المصدر: Cell stem cell [Cell Stem Cell] 2017 Apr 06; Vol. 20 (4), pp. 505-517.e6.

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: 101311472 Publication Model: Print Cited Medium: Internet ISSN: 1875-9777 (Electronic) Linking ISSN: 18759777 NLM ISO Abbreviation: Cell Stem Cell Subsets: MEDLINE

مواضيع طبية MeSH: DNA Methylation/*genetics , Induced Pluripotent Stem Cells/*metabolism , Nucleotide Motifs/*genetics , Proto-Oncogene Proteins c-myc/*metabolism, Clone Cells ; CpG Islands/genetics ; Fibroblasts/metabolism ; Gene Expression Regulation ; Genetic Variation ; Genome-Wide Association Study ; Humans ; Sequence Analysis, RNA ; Transcription Factors/metabolism ; Twins, Monozygotic/genetics

المؤلفون: Shepard PJ; Department of Pediatrics, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA., Barshop BA; 1] Department of Pediatrics, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA [2] Clinical and Translational Research Institute, University of California, San Diego, La Jolla, California, USA., Baumgartner MR; 1] Division of Metabolic Diseases and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland [2] Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland., Hansen JB; Department of Clinical Medicine, University of Tromsø, Tromsø, Norway., Jepsen K; 1] Department of Pediatrics, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA [2] Clinical and Translational Research Institute, University of California, San Diego, La Jolla, California, USA., Smith EN; 1] Department of Pediatrics, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA [2] Clinical and Translational Research Institute, University of California, San Diego, La Jolla, California, USA., Frazer KA; 1] Department of Pediatrics, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA [2] Clinical and Translational Research Institute, University of California, San Diego, La Jolla, California, USA [3] Institute for Genomic Medicine, University of California, San Diego, La Jolla, California, USA.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2015 Aug; Vol. 17 (8), pp. 660-7. Date of Electronic Publication: 2014 Nov 06.

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: Consanguinity*, Carbon-Carbon Ligases/*deficiency , Urea Cycle Disorders, Inborn/*genetics, Adult ; Alleles ; Carbon-Carbon Ligases/genetics ; Case-Control Studies ; Exome ; Female ; Genetic Association Studies ; Homozygote ; Humans ; Infant, Newborn ; Male ; Mutation ; Neonatal Screening ; Urea Cycle Disorders, Inborn/enzymology

SCR Disease Name: 3-methylcrotonyl CoA carboxylase 1 deficiency

المؤلفون: DeBoever C; Bioinformatics and Systems Biology, University of California San Diego, La Jolla, California, United States of America., Ghia EM; Moores Cancer Center, University of California San Diego, La Jolla, California, United States of America., Shepard PJ; Moores Cancer Center, University of California San Diego, La Jolla, California, United States of America; Department of Pediatrics and Rady Children's Hospital, University of California San Diego, La Jolla, California, United States of America., Rassenti L; Moores Cancer Center, University of California San Diego, La Jolla, California, United States of America., Barrett CL; Moores Cancer Center, University of California San Diego, La Jolla, California, United States of America; Department of Pediatrics and Rady Children's Hospital, University of California San Diego, La Jolla, California, United States of America; Institute for Genomic Medicine, University of California San Diego, La Jolla, California, United States of America., Jepsen K; Institute for Genomic Medicine, University of California San Diego, La Jolla, California, United States of America., Jamieson CH; Moores Cancer Center, University of California San Diego, La Jolla, California, United States of America; Department of Medicine, University of California San Diego, La Jolla, California, United States of America; Sanford Consortium for Regenerative Medicine, University of California San Diego, La Jolla, California, United States of America., Carson D; Moores Cancer Center, University of California San Diego, La Jolla, California, United States of America; Department of Medicine, University of California San Diego, La Jolla, California, United States of America; Sanford Consortium for Regenerative Medicine, University of California San Diego, La Jolla, California, United States of America., Kipps TJ; Moores Cancer Center, University of California San Diego, La Jolla, California, United States of America., Frazer KA; Moores Cancer Center, University of California San Diego, La Jolla, California, United States of America; Department of Pediatrics and Rady Children's Hospital, University of California San Diego, La Jolla, California, United States of America; Institute for Genomic Medicine, University of California San Diego, La Jolla, California, United States of America.

المصدر: PLoS computational biology [PLoS Comput Biol] 2015 Mar 13; Vol. 11 (3), pp. e1004105. Date of Electronic Publication: 2015 Mar 13 (Print Publication: 2015).

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

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238922 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7358 (Electronic) Linking ISSN: 1553734X NLM ISO Abbreviation: PLoS Comput Biol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation/*genetics , Mutation/*physiology , Neoplasms/*genetics , Phosphoproteins/*genetics , RNA Splice Sites/*genetics , Ribonucleoprotein, U2 Small Nuclear/*genetics , Transcriptome/*genetics, Humans ; Neoplasms/metabolism ; RNA Splicing Factors ; Sequence Analysis, RNA