Resultados de procura - Anne O’Donnell‐Luria

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  1. 1
    Mammalian cytosine methylation at a glance

    Mammalian cytosine methylation at a glance por Steen K.T. Ooi, Anne O’Donnell‐Luria, Timothy H. Bestor

    Publicado 2009
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  2. 2
    Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes

    Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes por Eleanor G. Seaby, Heidi L. Rehm, Anne O’Donnell‐Luria

    Publicado 2021
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  3. 3
    Hyperconserved CpG domains underlie Polycomb-binding sites

    Hyperconserved CpG domains underlie Polycomb-binding sites por Amos Tanay, Anne O’Donnell‐Luria, Marc Damelin, Timothy H. Bestor

    Publicado 2007
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  4. 4
    MethylomeDB: a database of DNA methylation profiles of the brain

    MethylomeDB: a database of DNA methylation profiles of the brain por Yurong Xin, Benjamin Chanrion, Anne O’Donnell‐Luria, Maria H. Milekic, Ramiro Costa, Yongchao Ge, Fatemeh Haghighi

    Publicado 2011
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  5. 5
    Increased DNA methylation in the suicide brain

    Increased DNA methylation in the suicide brain por Fatemeh Haghighi, Yurong Xin, Benjamin Chanrion, Anne O’Donnell‐Luria, Yongchao Ge, Andrew J. Dwork, Victoria Arango, J. John Mann

    Publicado 2014
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  6. 6
    Regional missense constraint improves variant deleteriousness prediction

    Regional missense constraint improves variant deleteriousness prediction por Kaitlin E. Samocha, Jack A. Kosmicki, Konrad J. Karczewski, Anne O’Donnell‐Luria, Emma Pierce‐Hoffman, Daniel G. MacArthur, Benjamin M. Neale, Mark J. Daly

    Publicado 2017
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  7. 7
    Variant interpretation using population databases: Lessons from gnomAD

    Variant interpretation using population databases: Lessons from gnomAD por Sanna Gudmundsson, Moriel Singer‐Berk, Nicholas A. Watts, William Phu, Julia K. Goodrich, Matthew Solomonson, Heidi L. Rehm, Daniel G. MacArthur, Anne O’Donnell‐Luria

    Publicado 2021
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  8. 8
    Advancing Understanding of Inequities in Rare Disease Genomics

    Advancing Understanding of Inequities in Rare Disease Genomics por Jillian Serrano, Melanie O’Leary, Grace E. VanNoy, Brian Mangilog, Ingrid A. Holm, Yarden S. Fraiman, Heidi L. Rehm, Anne O’Donnell‐Luria, Monica H. Wojcik

    Publicado 2023
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  9. 9
    Gene-based calibration of high-throughput functional assays for clinical variant classification

    Gene-based calibration of high-throughput functional assays for clinical variant classification por Daniel Zeiberg, Malvika Tejura, Abbye E. McEwen, Shawn Fayer, Vikas Pejaver, Alan F. Rubin, Lea M. Starita, Douglas M. Fowler, Anne O’Donnell‐Luria, Predrag Radivojac

    Publicado 2025
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  10. 10
    Pathogenic <i>ASXL1</i> somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

    Pathogenic <i>ASXL1</i> somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome por Colleen M. Carlston, Anne O’Donnell‐Luria, Hunter R. Underhill, Beryl B. Cummings, Ben Weisburd, Eric Vallabh Minikel, Daniel P. Birnbaum, Tatiana Tvrdik, Daniel G. MacArthur, Rong Mao

    Publicado 2017
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  11. 11
    Using high-resolution variant frequencies to empower clinical genome interpretation

    Using high-resolution variant frequencies to empower clinical genome interpretation por Nicola Whiffin, Eric Vallabh Minikel, Roddy Walsh, Anne O’Donnell‐Luria, Konrad J. Karczewski, Alexander Ing, Paul J.R. Barton, Birgit Funke, Stuart A. Cook, Daniel G. MacArthur, James S. Ware

    Publicado 2017
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  12. 12
    Identification of pathogenic variant enriched regions across genes and gene families

    Identification of pathogenic variant enriched regions across genes and gene families por Eduardo Pérez‐Palma, Patrick May, Sumaiya Iqbal, Lisa‐Marie Niestroj, Juanjiangmeng Du, Henrike Heyne, Jessica A. Castrillon, Anne O’Donnell‐Luria, Peter Nürnberg, Aarno Palotie, Mark J. Daly, Jessica C. Lal

    Publicado 2019
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  13. 13
    Age-related sperm DNA methylation changes are transmitted to offspring and associated with abnormal behavior and dysregulated gene expression

    Age-related sperm DNA methylation changes are transmitted to offspring and associated with abnormal behavior and dysregulated gene expression por Maria H. Milekic, Yurong Xin, Anne O’Donnell‐Luria, K K Kumar, Maria Bradley-Moore, Dolores Malaspina, Helen Moore, Daniela Brunner, Yulin Ge, John R. Edwards, Swagatika Paul, Fatemeh Haghighi, Jay A. Gingrich

    Publicado 2014
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  14. 14
    Estimating the selective effects of heterozygous protein-truncating variants from human exome data

    Estimating the selective effects of heterozygous protein-truncating variants from human exome data por Christopher A. Cassa, Donate Weghorn, Daniel J. Balick, Daniel M. Jordan, David P. Nusinow, Kaitlin E. Samocha, Anne O’Donnell‐Luria, Daniel G. MacArthur, Mark J. Daly, David R. Beier, Shamil Sunyaev

    Publicado 2017
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  15. 15
    Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

    Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations por Sarah L. Stenton, Vikas Pejaver, Timothy Bergquist, Leslie G. Biesecker, Alicia B. Byrne, Emily A.W. Nadeau, Marc S. Greenblatt, Steven M. Harrison, Sean V. Tavtigian, Predrag Radivojac, Steven E. Brenner, Anne O’Donnell‐Luria

    Publicado 2024
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  16. 16
    Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria

    Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria por Vikas Pejaver, Alicia B. Byrne, Bing Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin, Anne O’Donnell‐Luria, Steven M. Harrison, Sean V. Tavtigian, Marc S. Greenblatt, Leslie G. Biesecker, Predrag Radivojac, Steven E. Brenner

    Publicado 2022
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  17. 17
    Chromatin and sequence features that define the fine and gross structure of genomic methylation patterns

    Chromatin and sequence features that define the fine and gross structure of genomic methylation patterns por John R. Edwards, Anne O’Donnell‐Luria, Robert A. Rollins, Heather E. Peckham, Clarence Lee, Maria H. Milekic, Benjamin Chanrion, Yutao Fu, Tao Su, Hanina Hibshoosh, Jay A. Gingrich, Fatemeh Haghighi, Robert C. Nutter, Timothy H. Bestor

    Publicado 2010
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  18. 18
    Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity

    Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity por Matt C. Danzi, Isaac Xu, Sarah Fazal, Egor Dolzhenko, David Pellerin, Ben Weisburd, Chloe M. Reuter, Jacinda B. Sampson, Chiara Folland, Matthew L. Wheeler, Anne O’Donnell‐Luria, Stefan Wuchty, Gianina Ravenscroft, Michael A. Eberle, Stephan Züchner

    Publicado 2025
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  19. 19
    Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

    Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data por Moriel Singer‐Berk, Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood, Rachel G. Son, Nicholas A. Watts, Konrad J. Karczewski, Steven M. Harrison, Daniel G. MacArthur, Heidi L. Rehm, Anne O’Donnell‐Luria

    Publicado 2023
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  20. 20
    Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach

    Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach por Hyuk Jee, Zhengping Huang, Samantha Baxter, Yuelong Huang, Mária Lucía Taylor, Lauren A. Henderson, Sofia Rosenzweig, Aman Sharma, Eugene P. Chambers, Michael S. Hershfield, Qing Zhou, Fatma Dedeoğlu, Ivona Aksentijevich, Peter A. Nigrović, Anne O’Donnell‐Luria, Pui Y. Lee

    Publicado 2021
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