Showing 1 - 10 results of 10 for search '"HGG Advances"', query time: 0.03s Refine Results
  1. 1
    Biologically targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett’s esophagus and esophageal adenocarcinoma

    Biologically targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett’s esophagus and esophageal adenocarcinoma by Li Yan, Qianchuan He, Shiv P. Verma, Xu Zhang, Ann-Sophie Giel, Carlo Maj, Kathryn Graz, Elnaz Naderi, Jianhong Chen, Mourad Wagdy Ali, Puya Gharahkhani, Xiang Shu, Kenneth Offit, Pari M. Shah, Hans Gerdes, Daniela Molena, Amitabh Srivastava, Stuart MacGregor, Claire Palles, René Thieme, Michael Vieth, Ines Gockel, Thomas L. Vaughan, Johannes Schumacher, Matthew F. Buas

    Published 2025-04-01
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  2. 2
    Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay

    Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay by Melanie P. Napier, Erin Ryan, Adi Reich, Joshua A. Suhl, Diane Masser-Frye, Marilyn Jones, Celese Beaudreau, Nathaniel Robin, Dana Goodloe, Leandra Folk, Michelle M. Morrow, Deanna Alexis Carere

    Published 2025-04-01
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  3. 3
    Evaluation of imputation performance of multiple reference panels in a Pakistani population

    Evaluation of imputation performance of multiple reference panels in a Pakistani population by Jiayi Xu, Dongjing Liu, Arsalan Hassan, Giulio Genovese, Alanna C. Cote, Brian Fennessy, Esther Cheng, Alexander W. Charney, James A. Knowles, Muhammad Ayub, Roseann E. Peterson, Tim B. Bigdeli, Laura M. Huckins

    Published 2025-04-01
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  4. 4
    A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures

    A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures by Alison M. Muir, Adi Reich, Fanggeng Zou, Deanna Alexis Carere, Sue Moyer Harasink, Lily Tran, Bobbi McGivern

    Published 2025-04-01
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  5. 5
    Genome-wide maps of highly-similar intrachromosomal repeats that can mediate ectopic recombination in three human genome assemblies

    Genome-wide maps of highly-similar intrachromosomal repeats that can mediate ectopic recombination in three human genome assemblies by Luis Fernandez-Luna, Carlos Aguilar-Perez, Christopher M. Grochowski, Michele G. Mehaffey, Claudia M.B. Carvalho, Claudia Gonzaga-Jauregui

    Published 2025-04-01
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  6. 6
    Response to Karp-Tatham et al.

    Response to Karp-Tatham et al. by Astrid Marchal, Vanessa Sancho-Shimizu, Laurent Abel, Jean-Laurent Casanova, Aurélie Cobat, Alexandre Bolze

    Published 2025-04-01
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  7. 7
    An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome

    An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome by Tess Levy, J. Lloyd Holder, Jr., Joseph P. Horrigan, Michael F. Snape, Alison McMorn, Christina Layton, Hailey Silver, Kate Friedman, Hannah Grosman, Slayton Underwood, Danielle Halpern, Jessica Zweifach, Paige M. Siper, Alexander Kolevzon

    Published 2025-04-01
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  8. 8
    Caution when using network partners for target identification in drug discovery

    Caution when using network partners for target identification in drug discovery by Dandan Tan, Yiheng Chen, Yann Ilboudo, Kevin Y.H. Liang, Guillaume Butler-Laporte, J. Brent Richards

    Published 2025-04-01
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  9. 9
    Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6

    Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6 by Blaine A. Bates, Kylee E. Bates, Spencer A. Boris, Colin Wessman, David Stone, Justin Bryan, Mary F. Davis, Matthew H. Bailey

    Published 2025-04-01
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  10. 10
    Mapping dynamic regulation of gene expression using single-cell transcriptomics and application to complex disease genetics

    Mapping dynamic regulation of gene expression using single-cell transcriptomics and application to complex disease genetics by Hanna Abe, Phillip Lin, Dan Zhou, Douglas M. Ruderfer, Eric R. Gamazon

    Published 2025-04-01
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