المؤلفون: Malone CF; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Mabe NW; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Forman AB; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Alexe G; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Engel KL; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Chen YC; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; The Center for Cancer Epigenetics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA., Soeung M; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Salhotra S; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA., Basanthakumar A; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA., Liu B; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; The Center for Cancer Epigenetics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA., Dent SYR; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; The Center for Cancer Epigenetics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA., Stegmaier K; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA, USA.

المصدر: Science advances [Sci Adv] 2024 May 31; Vol. 10 (22), pp. eadm9449. Date of Electronic Publication: 2024 May 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

مواضيع طبية MeSH: Neuroblastoma*/genetics , Neuroblastoma*/metabolism , Neuroblastoma*/pathology , N-Myc Proto-Oncogene Protein*/genetics , N-Myc Proto-Oncogene Protein*/metabolism , Gene Expression Regulation, Neoplastic*, Humans ; Cell Line, Tumor ; Histone Acetyltransferases/metabolism ; Histone Acetyltransferases/genetics ; Acetylation ; Histones/metabolism ; Animals ; Gene Amplification ; Chromatin/metabolism ; Chromatin/genetics ; Mice

المؤلفون: Huffines AK; Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Engel KL; Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., French SL; Department of Microbiology, Immunology, and Cancer Biology, University of Virginia Health System, Charlottesville, Virginia, USA., Zhang Y; Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Viktorovskaya OV; Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Schneider DA; Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA. Electronic address: dschneid@uab.edu.

المصدر: The Journal of biological chemistry [J Biol Chem] 2022 Dec; Vol. 298 (12), pp. 102730. Date of Electronic Publication: 2022 Nov 22.

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

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: RNA Polymerase I*/genetics , RNA Polymerase I*/metabolism , Saccharomyces cerevisiae*/genetics , Saccharomyces cerevisiae*/metabolism , Transcription Elongation, Genetic*, Biochemical Phenomena ; DNA, Ribosomal/genetics ; Transcription, Genetic

المؤلفون: Bassett J; Department of Systems Biology, Institute for Systems Biology, Seattle, Washington, USA., Rimel JK; Department of Biochemistry, University of Colorado, Boulder, Colorado, USA., Basu S; Department of Cell Biology, University of Pittsburgh, Pennsylvania, USA., Basnet P; Department of Biological Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Luo J; Department of Systems Biology, Institute for Systems Biology, Seattle, Washington, USA., Engel KL; Boulder BioConsulting, Inc, Boulder, Colorado, USA., Nagel M; Department of Biochemistry, University of Colorado, Boulder, Colorado, USA., Woyciehowsky A; Department of Biochemistry, University of Colorado, Boulder, Colorado, USA., Ebmeier CC; Department of Biochemistry, University of Colorado, Boulder, Colorado, USA., Kaplan CD; Department of Biological Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Taatjes DJ; Department of Biochemistry, University of Colorado, Boulder, Colorado, USA., Ranish JA; Department of Systems Biology, Institute for Systems Biology, Seattle, Washington, USA. Electronic address: jeff.ranish@isbscience.org.

المصدر: The Journal of biological chemistry [J Biol Chem] 2022 Oct; Vol. 298 (10), pp. 102433. Date of Electronic Publication: 2022 Aug 28.

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

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: DNA Helicases*/genetics , DNA Helicases*/metabolism , Saccharomyces cerevisiae*/genetics , Saccharomyces cerevisiae*/metabolism , Saccharomyces cerevisiae Proteins*/genetics , Saccharomyces cerevisiae Proteins*/metabolism , Transcription Factor TFIIH*/genetics , Transcription Factor TFIIH*/metabolism, Humans ; DNA Repair ; Mutagenesis ; Transcription, Genetic

المؤلفون: Lo HG; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, Colorado., Engel KL; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado., Goering R; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, Colorado., Li Y; Department of Chemistry, University of Hong Kong, Hong Kong., Spitale RC; Department of Pharmaceutical Sciences, University of California Irvine, Irvine, California.; Department of Chemistry, University of California Irvine, Irvine, California., Taliaferro JM; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, Colorado.

المصدر: Current protocols [Curr Protoc] 2022 May; Vol. 2 (5), pp. e424.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101773894 Publication Model: Print Cited Medium: Internet ISSN: 2691-1299 (Electronic) Linking ISSN: 26911299 NLM ISO Abbreviation: Curr Protoc Subsets: MEDLINE

مواضيع طبية MeSH: Copper* , RNA*/genetics, High-Throughput Nucleotide Sequencing/methods ; RNA-Seq ; Streptavidin/genetics

المؤلفون: Engel KL; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Lo HG; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Goering R; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Li Y; Department of Chemistry, Hong Kong University., Spitale RC; Department of Pharmaceutical Sciences, University of California Irvine, Irvine, CA, USA.; Department of Chemistry, University of California Irvine, Irvine, CA, USA., Taliaferro JM; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.

المصدر: Nucleic acids research [Nucleic Acids Res] 2022 Feb 28; Vol. 50 (4), pp. e24.

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

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: RNA*/chemistry , Transcriptome*, Active Transport, Cell Nucleus ; Cell Nucleus/genetics ; Cell Nucleus/metabolism ; Cytoplasm/metabolism ; Sequence Analysis, RNA

المؤلفون: Goering R; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Engel KL; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Gillen AE; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Division of Hematology, University of Colorado School of Medicine, Aurora, CO, USA., Fong N; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Bentley DL; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Taliaferro JM; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. matthew.taliaferro@cuanschutz.edu.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. matthew.taliaferro@cuanschutz.edu.

المصدر: BMC genomics [BMC Genomics] 2021 Jun 26; Vol. 22 (1), pp. 476. Date of Electronic Publication: 2021 Jun 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164 (Electronic) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Neoplasms* , Polyadenylation*, 3' Untranslated Regions ; Humans ; RNA, Messenger/metabolism ; RNA-Binding Proteins/genetics

المؤلفون: Engel KL; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Arora A; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Goering R; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Lo HG; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Taliaferro JM; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.

المصدر: Traffic (Copenhagen, Denmark) [Traffic] 2020 Jun; Vol. 21 (6), pp. 404-418. Date of Electronic Publication: 2020 Apr 29.

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

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 100939340 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0854 (Electronic) Linking ISSN: 13989219 NLM ISO Abbreviation: Traffic Subsets: MEDLINE

مواضيع طبية MeSH: RNA*/genetics , RNA*/metabolism , RNA Transport* , Transcriptome*, Protein Transport

المؤلفون: Clarke AM; Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham, Birmingham, AL 35294., Engel KL; Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham, Birmingham, AL 35294., Giles KE; Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham, Birmingham, AL 35294., Petit CM; Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham, Birmingham, AL 35294 cpetit@uab.edu dschneid@uab.edu., Schneider DA; Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham, Birmingham, AL 35294 cpetit@uab.edu dschneid@uab.edu.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2018 Dec 11; Vol. 115 (50), pp. E11633-E11641. Date of Electronic Publication: 2018 Nov 27.

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

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Transcription Elongation, Genetic*, DNA, Ribosomal/*genetics , DNA, Ribosomal/*metabolism , RNA Polymerase I/*metabolism, Base Sequence ; Conserved Sequence ; DNA, Bacterial/genetics ; DNA, Bacterial/metabolism ; DNA, Fungal/genetics ; DNA, Fungal/metabolism ; Escherichia coli/genetics ; Escherichia coli/metabolism ; Escherichia coli Proteins/genetics ; Escherichia coli Proteins/metabolism ; Periplasmic Proteins/genetics ; Periplasmic Proteins/metabolism ; Promoter Regions, Genetic ; Saccharomyces cerevisiae/genetics ; Saccharomyces cerevisiae/metabolism ; Saccharomyces cerevisiae Proteins/genetics ; Saccharomyces cerevisiae Proteins/metabolism ; Sequence Analysis, DNA ; Species Specificity ; Terminator Regions, Genetic ; Uridine Triphosphate/metabolism

المؤلفون: Carvill GL; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA., Engel KL; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA; Department of Biochemistry and Molecular Genetics, Anschutz School of Medicine, University of Colorado Denver, Denver, CO 80204, USA., Ramamurthy A; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA., Cochran JN; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Roovers J; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp 2610, Belgium; Department of Neurology, University Hospital Antwerp, Antwerp 2610, Belgium., Stamberger H; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp 2610, Belgium; Department of Neurology, University Hospital Antwerp, Antwerp 2610, Belgium., Lim N; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Schneider AL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia., Hollingsworth G; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia., Holder DH; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Regan BM; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia., Lawlor J; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Lagae L; Department of Development and Regeneration - Section Pediatric Neurology, University Hospitals KU Leuven, Leuven 3000, Belgium., Ceulemans B; Department of Pediatric Neurology, University and University Hospital Antwerp, Antwerp 2610, Belgium., Bebin EM; University of Alabama at Birmingham, Birmingham, AL 35294, USA., Nguyen J; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Barsh GS; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Weckhuysen S; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp 2610, Belgium; Department of Neurology, University Hospital Antwerp, Antwerp 2610, Belgium., Meisler M; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA., Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia., De Jonghe P; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp 2610, Belgium; Department of Neurology, University Hospital Antwerp, Antwerp 2610, Belgium., Scheffer IE; Department of Neurology, University Hospital Antwerp, Antwerp 2610, Belgium; University of Melbourne, Royal Children's Hospital, Murdoch Children's Research Institute, Florey Institute, Melbourne, VIC 3084, Australia., Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: gcooper@hudsonalpha.org., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. Electronic address: hmefford@uw.edu.

مؤلفون مشاركون: EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group

المصدر: American journal of human genetics [Am J Hum Genet] 2018 Dec 06; Vol. 103 (6), pp. 1022-1029.

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 Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsies, Myoclonic/*genetics , Epilepsy/*genetics , Exons/*genetics , Genetic Variation/*genetics , NAV1.1 Voltage-Gated Sodium Channel/*genetics, Adult ; Child ; Female ; Humans ; Male ; Middle Aged ; Neurodevelopmental Disorders/genetics ; Sodium Channels/genetics ; Transcriptome/genetics

المؤلفون: Snijders Blok L; Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA., Bowling KM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA., Prokop JW; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA., Engel KL; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA., Cochran JN; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA., Bebin EM; University of Alabama at Birmingham, Birmingham, AL, USA., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Terhal P; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Smith R; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, ME, USA., Hurst JA; Great Ormond Street Hospital for Children, London, UK., McLaughlin H; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA., Person R; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA., Crunk A; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Symonds JD; Paediatric Neurosciences Research Group, University of Glasgow and Royal Hospital for Children, Glasgow, G51 4TF, UK., Zuberi SM; Paediatric Neurosciences Research Group, University of Glasgow and Royal Hospital for Children, Glasgow, G51 4TF, UK., Elliott KS; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Sanders VR; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Masunga A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Ortiz-Gonzalez XR; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Pfundt R; Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands., Brunner HG; Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.; Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht UMC, Maastricht, The Netherlands., Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Kleefstra T; Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. tjitske.kleefstra@radboudumc.nl.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands. tjitske.kleefstra@radboudumc.nl., Cooper GM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA. gcooper@hudsonalpha.org.

مؤلفون مشاركون: DDD study

المصدر: Human genetics [Hum Genet] 2018 May; Vol. 137 (5), pp. 375-388. Date of Electronic Publication: 2018 May 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Sequence* , Mutation, Missense* , Sequence Deletion*, Mediator Complex/*genetics , Neurodevelopmental Disorders/*genetics, Adult ; Child ; Child, Preschool ; Cyclin-Dependent Kinase 8/genetics ; Cyclin-Dependent Kinase 8/metabolism ; Female ; Humans ; Male ; Mediator Complex/metabolism ; Neurodevelopmental Disorders/metabolism ; Transcription Initiation, Genetic ; Ubiquitination/genetics ; United Kingdom