يعرض 1 - 10 نتائج من 19 نتيجة بحث عن '"Shannon M McNulty"', وقت الاستعلام: 1.00s تنقيح النتائج
  1. 1
    دورية أكاديمية
    RNA-dependent stabilization of SUV39H1 at constitutive heterochromatin

    المؤلفون: Whitney L Johnson, William T Yewdell, Jason C Bell, Shannon M McNulty, Zachary Duda, Rachel J O’Neill, Beth A Sullivan, Aaron F Straight

    المصدر: eLife, Vol 6 (2017)

    مصطلحات موضوعية: heterochromatin, noncoding RNA, histone methylation, SUV39H1, chromatin, Medicine, Science, Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: https://elifesciences.org/articles/25299; https://doaj.org/toc/2050-084X

    URL الوصول: https://doaj.org/article/51427522d6b74dd39ccd9d4d8de6f023

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  2. 2
    دورية أكاديمية
    Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

    المؤلفون: Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona M. Kanavy, Xi Luo, Shannon M. McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg, On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group

    المصدر: Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2019)

    مصطلحات موضوعية: Functional assays, Guidelines, Variant interpretation, Medicine, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1756-994X

    URL الوصول: https://doaj.org/article/4407a9ebc41048f29d3325398d3b8d31

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  3. 3
    دورية أكاديمية
    Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

    المؤلفون: Dona M. Kanavy, Shannon M. McNulty, Meera K. Jairath, Sarah E. Brnich, Chris Bizon, Bradford C. Powell, Jonathan S. Berg

    المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-19 (2019)

    مصطلحات موضوعية: Clinical genome resource, Clinical exome sequencing, Clinical genome sequencing, Functional assays, Variant interpretation, Medicine, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1756-994X

    URL الوصول: https://doaj.org/article/953cd458b6704122b1525cfebd52050e

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  4. 4
    Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients

    المؤلفون: Christoph B. Geier, Maryssa Ellison, Rachel Cruz, Sumit Pawar, Alexander Leiss-Piller, Katarina Zmajkovicova, Shannon M McNulty, Melis Yilmaz, Martin Oman Evans, Sumai Gordon, Boglarka Ujhazi, Ivana Wiest, Hassan Abolhassani, Asghar Aghamohammadi, Sara Barmettler, Saleh Bhar, Anastasia Bondarenko, Audrey Anna Bolyard, David Buchbinder, Michaela Cada, Mirta Cavieres, James A. Connelly, David C. Dale, Ekaterina Deordieva, Morna J. Dorsey, Simon B. Drysdale, Stephan Ehl, Reem Elfeky, Francesca Fioredda, Frank Firkin, Elizabeth Förster-Waldl, Bob Geng, Vera Goda, Luis Gonzalez-Granado, Eyal Grunebaum, Elzbieta Grzesk, Sarah E. Henrickson, Anna Hilfanova, Mitsuteru Hiwatari, Chihaya Imai, Winnie Ip, Soma Jyonouchi, Hirokazu Kanegane, Yuta Kawahara, Amer M. Khojah, Vy Hong-Diep Kim, Marina Kojić, Sylwia Kołtan, Gergely Krivan, Daman Langguth, Yu-Lung Lau, Daniel Leung, Maurizio Miano, Irina Mersyanova, Talal Mousallem, Mica Muskat, Flavio A. Naoum, Suzie A. Noronha, Monia Ouederni, Shuichi Ozono, G. Wendell Richmond, Inga Sakovich, Ulrich Salzer, Catharina Schuetz, Filiz Odabasi Seeborg, Svetlana O. Sharapova, Katja Sockel, Alla Volokha, Malte von Bonin, Klaus Warnatz, Oliver Wegehaupt, Geoffrey A. Weinberg, Ke-Juin Wong, Austen Worth, Huang Yu, Yulia Zharankova, Xiaodong Zhao, Lisa Devlin, Adriana Badarau, Krisztian Csomos, Marton Keszei, Joao Pereira, Arthur G Taveras, Sarah L. Beaussant-Cohen, Mei-Sing Ong, Anna Shcherbina, Jolan E. Walter

    المصدر: Journal of Clinical Immunology. 42:1748-1765

    مصطلحات موضوعية: Receptors, CXCR4, Neutropenia, Agammaglobulinemia, Lymphopenia, Immunology, Immunologic Deficiency Syndromes, Disease Progression, Humans, Immunology and Allergy, Warts

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ec3dbe757488d15524fabc139819f46
    https://doi.org/10.1007/s10875-022-01312-7

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  5. 5
    Current Tools, Databases, and Resources for Phenotype and Variant Analysis of Clinical Exome Sequencing

    المؤلفون: Bradford C. Powell, Yasemin Cole, Stefan Rentas, Shannon M. McNulty

    المصدر: Advances in Molecular Pathology. 4:1-15

    مصطلحات موضوعية: Genomic medicine, General Medicine, Computational biology, Biology, Phenotype, Exome sequencing

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2d0f541ff1ee8eb6ea7aa2230f365ce3
    https://doi.org/10.1016/j.yamp.2021.07.001

    Full Text via ClinicalKey
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  6. 6
    Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

    المؤلفون: Meera K. Jairath, Sarah E. Brnich, Chris Bizon, Bradford C. Powell, Jonathan S. Berg, Shannon M. McNulty, Dona M. Kanavy

    المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-19 (2019)
    Genome Medicine

    مصطلحات موضوعية: Functional assay, medicine.medical_specialty, lcsh:QH426-470, Computer science, Process (engineering), Systems biology, Clinical genome sequencing, lcsh:Medicine, Genomics, Computational biology, Disease, 03 medical and health sciences, Consistency (database systems), 0302 clinical medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Functional studies, Genetic Testing, Molecular Biology, Expert Testimony, Genetics (clinical), Variant interpretation, 030304 developmental biology, Functional assays, 0303 health sciences, Mechanism (biology), Research, lcsh:R, Disease Management, Genetic Variation, Human genetics, Clinical exome sequencing, lcsh:Genetics, 030220 oncology & carcinogenesis, Practice Guidelines as Topic, Molecular Medicine, Medical genetics, Disease Susceptibility, Medical Informatics, Software, Clinical genome resource

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8ad7485e9a1ddf2479db2fdba976cd9
    https://doaj.org/article/953cd458b6704122b1525cfebd52050e

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  7. 7
    Angiogenin‐mediated tRNA cleavage as a novel feature of stored red blood cells

    المؤلفون: Jianli Wu, Shannon M. McNulty, Jen-Tsan Chi, Jennifer F. Doss, Wen-Hsuan Yang, John D. Roback, Katelyn A. Walzer

    المصدر: Br J Haematol

    مصطلحات موضوعية: 0301 basic medicine, Erythrocyte transfusion, Erythrocytes, Angiogenin, Blood preservation, Cleavage (embryo), Article, 03 medical and health sciences, 0302 clinical medicine, RNA, Transfer, Humans, Ribonuclease, RNA Cleavage, biology, Chemistry, RNA, Ribonuclease, Pancreatic, Hematology, MicroRNAs, 030104 developmental biology, Biochemistry, Blood Preservation, 030220 oncology & carcinogenesis, Transfer RNA, biology.protein, Angiogenesis Inducing Agents, Erythrocyte Transfusion

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abf5dd8beb4c65fe1933400125c9b5c1
    https://doi.org/10.1111/bjh.15605

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  8. 8
    MACE2K: A Text-Mining Tool to Extract Literature-based Evidence for Variant Interpretation using Machine Learning

    المؤلفون: Subha Madhavan, Yasaswini Iyer, Ifeoma Ikwuemesi, Shannon M. McNulty, Junxia Lin, Ahson M. Saiyed, Shruti Rao, Courtney Thaxton, Trisha Miglani, Samir Gupta

    مصطلحات موضوعية: Text mining, Interpretation (logic), business.industry, Computer science, Process (engineering), Genomic medicine, Artificial intelligence, business, Machine learning, computer.software_genre, computer, Task (project management)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::972c6fa7d5c1094e90dad264d436933a
    https://doi.org/10.1101/2020.12.03.409094

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  9. 9
    A genetic memory initiates the epigenetic loop necessary to preserve centromere position

    المؤلفون: Daniele Fachinetti, Sebastian Hoffmann, Florian Chardon, Helena M Izquierdo, Solène Hervé, Nicolas Manel, Marie Dumont, Veer Keizer, Shannon M. McNulty, Beth A. Sullivan, Riccardo Gamba

    المساهمون: Biologie Cellulaire et Cancer, Institut Curie [Paris]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Immunité et cancer (U932), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Curie [Paris], Duke University Medical Center, Institut Curie [Paris], Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Fachinetti, Daniele

    المصدر: EMBO Journal
    EMBO Journal, EMBO Press, 2020, 39, ⟨10.15252/embj.2020105505⟩
    EMBO Journal, EMBO Press, 2020, 39 (20), ⟨10.15252/embj.2020105505⟩
    The EMBO Journal
    EMBO Journal, 2020, 39, ⟨10.15252/embj.2020105505⟩

    مصطلحات موضوعية: Neocentromere, [SDV]Life Sciences [q-bio], Population, chromosome segregation, macromolecular substances, Biology, Chromatin, Epigenetics, Genomics & Functional Genomics, General Biochemistry, Genetics and Molecular Biology, Article, Chromosome segregation, 03 medical and health sciences, Histone H3, 0302 clinical medicine, Transcription & Genomics, Centromere, Epigenetics, education, Molecular Biology, Genetic memory (biology), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, education.field_of_study, General Immunology and Microbiology, General Neuroscience, Cell Cycle, Articles, Chromatin, Cell biology, [SDV] Life Sciences [q-bio], centromere, chromatin, CENP-A, 030217 neurology & neurosurgery, CENP‐A, CENP-B, CENP‐B

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fed18fd20cd51746656d6593782eb679
    https://hal-cnrs.archives-ouvertes.fr/hal-03452706

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  10. 10
    Going the distance: Neocentromeres make long-range contacts with heterochromatin

    المؤلفون: Shannon M. McNulty, Beth A. Sullivan

    المصدر: Journal of Cell Biology. 218:5-7

    مصطلحات موضوعية: 0303 health sciences, 03 medical and health sciences, 0302 clinical medicine, Heterochromatin, Evolutionary biology, Centromere, Cell Biology, Biology, 030217 neurology & neurosurgery, 030304 developmental biology

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d212b72be1f011a91fa888e8861ffc2f
    https://doi.org/10.1083/jcb.201811172

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