Zobrazeno 1 - 10 of 19 pro vyhledávání: '"Shannon M. McNulty"'
1
Akademický článek
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
Autor: 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
Publikováno v: Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2019)
Abstract Background The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence. This includes the strong evide
Externí odkaz: https://doaj.org/article/4407a9ebc41048f29d3325398d3b8d31
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2
Akademický článek
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
Autor: Dona M. Kanavy, Shannon M. McNulty, Meera K. Jairath, Sarah E. Brnich, Chris Bizon, Bradford C. Powell, Jonathan S. Berg
Publikováno v: Genome Medicine, Vol 11, Iss 1, Pp 1-19 (2019)
Abstract Background The 2015 American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence variant interpretation state that “well-established” functional studies can b
Externí odkaz: https://doaj.org/article/953cd458b6704122b1525cfebd52050e
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3
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients
Autor: 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
Publikováno v: Journal of Clinical Immunology. 42:1748-1765
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We characterize a unique international cohort of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ec3dbe757488d15524fabc139819f46
https://doi.org/10.1007/s10875-022-01312-7
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5
Akademický článek
RNA-dependent stabilization of SUV39H1 at constitutive heterochromatin
Autor: Whitney L Johnson, William T Yewdell, Jason C Bell, Shannon M McNulty, Zachary Duda, Rachel J O’Neill, Beth A Sullivan, Aaron F Straight
Publikováno v: eLife, Vol 6 (2017)
Heterochromatin formed by the SUV39 histone methyltransferases represses transcription from repetitive DNA sequences and ensures genomic stability. How SUV39 enzymes localize to their target genomic loci remains unclear. Here, we demonstrate that chr
Externí odkaz: https://doaj.org/article/51427522d6b74dd39ccd9d4d8de6f023
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6
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
Autor: Meera K. Jairath, Sarah E. Brnich, Chris Bizon, Bradford C. Powell, Jonathan S. Berg, Shannon M. McNulty, Dona M. Kanavy
Publikováno v: Genome Medicine, Vol 11, Iss 1, Pp 1-19 (2019)
Genome Medicine
BackgroundThe 2015 American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence variant interpretation state that “well-established” functional studies can be used as
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8ad7485e9a1ddf2479db2fdba976cd9
https://doaj.org/article/953cd458b6704122b1525cfebd52050e
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7
MACE2K: A Text-Mining Tool to Extract Literature-based Evidence for Variant Interpretation using Machine Learning
Autor: Subha Madhavan, Yasaswini Iyer, Ifeoma Ikwuemesi, Shannon M. McNulty, Junxia Lin, Ahson M. Saiyed, Shruti Rao, Courtney Thaxton, Trisha Miglani, Samir Gupta
Interpretation of a given variant’s pathogenicity is one of the most profound challenges to realizing the promise of genomic medicine. A large amount of information about associations between variants and diseases used by curators and researchers f
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::972c6fa7d5c1094e90dad264d436933a
https://doi.org/10.1101/2020.12.03.409094
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8
A genetic memory initiates the epigenetic loop necessary to preserve centromere position
Autor: 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
Publikováno v: 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⟩
Centromeres are built on repetitive DNA sequences (CenDNA) and a specific chromatin enriched with the histone H3 variant CENP‐A, the epigenetic mark that identifies centromere position. Here, we interrogate the importance of CenDNA in centromere sp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fed18fd20cd51746656d6593782eb679
https://hal-cnrs.archives-ouvertes.fr/hal-03452706
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10
Going the distance: Neocentromeres make long-range contacts with heterochromatin
Autor: Shannon M. McNulty, Beth A. Sullivan
Publikováno v: Journal of Cell Biology. 218:5-7
Neocentromeres are ectopic centromeres that form at noncanonical, usually nonrepetitive, genomic locations. Nishimura et al. (2019. J. Cell Biol. https://doi.org/10.1083/jcb.201805003) explore the three-dimensional architecture of vertebrate neocentr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d212b72be1f011a91fa888e8861ffc2f
https://doi.org/10.1083/jcb.201811172
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