Ngā hua rapu - Anne O’Donnell‐Luria

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  1. 1
    Mammalian cytosine methylation at a glance

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

    I whakaputaina 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 mā Eleanor G. Seaby, Heidi L. Rehm, Anne O’Donnell‐Luria

    I whakaputaina 2021
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  3. 3
    Hyperconserved CpG domains underlie Polycomb-binding sites

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

    I whakaputaina 2007
    Whiwhi kuputuhi katoa
    Artigo
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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 mā Yurong Xin, Benjamin Chanrion, Anne O’Donnell‐Luria, Maria H. Milekic, Ramiro Costa, Yongchao Ge, Fatemeh Haghighi

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    Increased DNA methylation in the suicide brain

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

    I whakaputaina 2014
    Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Regional missense constraint improves variant deleteriousness prediction

    Regional missense constraint improves variant deleteriousness prediction mā 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

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

    Variant interpretation using population databases: Lessons from gnomAD mā 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

    I whakaputaina 2021
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  8. 8
    Advancing Understanding of Inequities in Rare Disease Genomics

    Advancing Understanding of Inequities in Rare Disease Genomics mā 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

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 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 mā 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

    I whakaputaina 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 mā 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

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2014
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    Artigo
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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 mā 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

    I whakaputaina 2017
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2024
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 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 mā 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

    I whakaputaina 2010
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    Artigo
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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 mā 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

    I whakaputaina 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 mā 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

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2021
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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