Works by Sharp, Andrew J.

Results: 51
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    Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.

    Published in:
    Human Mutation, 2018, v. 39, n. 6, p. 870, doi. 10.1002/humu.23419
    By:
    • Manheimer, Kathryn B.;
    • Patel, Nihir;
    • Richter, Felix;
    • Gorham, Joshua;
    • Tai, Angela C.;
    • Homsy, Jason;
    • Boskovski, Marko T.;
    • Parfenov, Michael;
    • Goldmuntz, Elizabeth;
    • Chung, Wendy K.;
    • Brueckner, Martina;
    • Tristani-Firouzi, Martin;
    • Srivastava, Deepak;
    • Seidman, Jonathan G.;
    • Seidman, Christine E.;
    • Gelb, Bruce D.;
    • Sharp, Andrew J.
    Publication type:
    Article
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    15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.

    Published in:
    Nature Genetics, 2009, v. 41, n. 2, p. 160, doi. 10.1038/ng.292
    By:
    • Helbig, Ingo;
    • Mefford, Heather C.;
    • Sharp, Andrew J.;
    • Guipponi, Michel;
    • Fichera, Marco;
    • Franke, Andre;
    • Muhle, Hiltrud;
    • de Kovel, Carolien;
    • Baker, Carl;
    • von Spiczak, Sarah;
    • Kron, Katherine L.;
    • Steinich, Ines;
    • Kleefuß-Lie, Ailing A.;
    • Leu, Costin;
    • Gaus, Verena;
    • Schmitz, Bettina;
    • Klein, Karl M.;
    • Reif, Philipp S.;
    • Rosenow, Felix;
    • Weber, Yvonne
    Publication type:
    Article
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    A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

    Published in:
    Nature Genetics, 2008, v. 40, n. 3, p. 322, doi. 10.1038/ng.93
    By:
    • Sharp, Andrew J.;
    • Mefford, Heather C.;
    • Kelly Li;
    • Baker, Carl;
    • Skinner, Cindy;
    • Stevenson, Roger E.;
    • Schroer, Richard J.;
    • Novara, Francesca;
    • De Gregori, Manuela;
    • Ciccone, Roberto;
    • Broomer, Adam;
    • Casuga, Iris;
    • Yu Wang;
    • Chunlin Xiao;
    • Barbacioru, Catalin;
    • Gimelli, Giorgio;
    • Bernardina, Bernardo Dalla;
    • Torniero, Claudia;
    • Giorda, Roberto;
    • Regan, Regina
    Publication type:
    Article
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    Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

    Published in:
    Nature Genetics, 2006, v. 38, n. 9, p. 1038, doi. 10.1038/ng1862
    By:
    • Sharp, Andrew J.;
    • Hansen, Sierra;
    • Selzer, Rebecca R.;
    • Ze Cheng;
    • Regan, Regina;
    • Hurst, Jane A.;
    • Stewart, Helen;
    • Price, Sue M.;
    • Blair, Edward;
    • Hennekam, Raoul C.;
    • Fitzpatrick, Carrie A.;
    • Segraves, Rick;
    • Richmond, Todd A.;
    • Guiver, Cheryl;
    • Albertson, Donna G.;
    • Pinkel, Daniel;
    • Eis, Peggy S.;
    • Schwartz, Stuart;
    • Knight, Samantha J. L.;
    • Eichler, Evan E.
    Publication type:
    Article
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    Fine-scale structural variation of the human genome.

    Published in:
    Nature Genetics, 2005, v. 37, n. 7, p. 727, doi. 10.1038/ng1562
    By:
    • Tuzun, Eray;
    • Sharp, Andrew J.;
    • Bailey, Jeffrey A.;
    • Kaul, Rajinder;
    • Morrison, V. Anne;
    • Pertz, Lisa M.;
    • Haugen, Eric;
    • Hayden, Hillary;
    • Albertson, Donna;
    • Pinkel, Daniel;
    • Olson, Maynard V.;
    • Eichler, Evan E.
    Publication type:
    Article
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    O4‐10‐06: INTEGRATED GENETIC‐EPIGENETIC ANALYSES OF ALZHEIMER'S DISEASE.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P1261, doi. 10.1016/j.jalz.2019.06.4799
    By:
    • Smith, Rebecca G.;
    • Pishva, Ehsan;
    • Shireby, Gemma;
    • Smith, Adam R.;
    • Hannon, Eilis;
    • Sharp, Andrew J.;
    • f Mastroeni, Diego;
    • Schalkwyk, Leonard C.;
    • Haroutunian, Vahram;
    • Coleman, Paul D.;
    • Bennett, David A.;
    • van den Hove, Daniel L.A.;
    • De Jager, Philip L.;
    • Mill, Jonathan;
    • Lunnon, Katie
    Publication type:
    Article
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    DNA Methylation: Insights into Human Evolution.

    Published in:
    PLoS Genetics, 2015, v. 11, n. 12, p. 1, doi. 10.1371/journal.pgen.1005661
    By:
    • Hernando-Herraez, Irene;
    • Garcia-Perez, Raquel;
    • Sharp, Andrew J.;
    • Marques-Bonet, Tomas
    Publication type:
    Article
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    Identification of rare de novo epigenetic variations in congenital disorders.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04540-x
    By:
    • Joshi, Ricky S.;
    • Garg, Paras;
    • Martin-Trujillo, Alejandro;
    • Patel, Nihir;
    • Jadhav, Bharati;
    • Watson, Corey T.;
    • Gibson, William;
    • Tessereau, Chloe;
    • Gelb, Bruce D.;
    • Sharp, Andrew J.;
    • Barbosa, Mafalda;
    • Buxbaum, Joseph D.;
    • Grice, Dorothy E.;
    • Soares, Gabriela;
    • De Rubeis, Silvia;
    • Reichert, Jennifer;
    • Chetnik, Kelsey;
    • Edelmann, Lisa;
    • Hui Mei;
    • Lopes, Fatima
    Publication type:
    Article
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    Characterization of a recurrent 15q24 microdeletion syndrome.

    Published in:
    Human Molecular Genetics, 2007, v. 16, n. 5, p. 567, doi. 10.1093/hmg/ddm016
    By:
    • Sharp, Andrew J.;
    • Selzer, Rebecca R.;
    • Veltman, Joris A.;
    • Gimelli, Stefania;
    • Gimelli, Giorgio;
    • Striano, Pasquale;
    • Coppola, Antonietta;
    • Regan, Regina;
    • Price, Sue M.;
    • Knoers, Nine V.;
    • Eis, Peggy S.;
    • Brunner, Han G.;
    • Hennekam, Raoul C.;
    • Knight, Samantha J.L.;
    • de Vries, Bert B.A.;
    • Zuffardi, Orsetta;
    • Eichler, Evan E.
    Publication type:
    Article
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    High-throughput genotyping of intermediate-size structural variation.

    Published in:
    Human Molecular Genetics, 2006, v. 15, n. 7, p. 1159, doi. 10.1093/hmg/ddl031
    By:
    • Newman, Tera L.;
    • Rieder, Mark J.;
    • Morrison, V. Anne;
    • Sharp, Andrew J.;
    • Smith, Joshua D.;
    • Sprague, L. James;
    • Kaul, Rajinder;
    • Carlson, Christopher S.;
    • Olson, Maynard V.;
    • Nickerson, Deborah A.;
    • Eichler, Evan E.
    Publication type:
    Article
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    A meta-analysis of epigenome-wide association studies in Alzheimer's disease highlights novel differentially methylated loci across cortex.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23243-4
    By:
    • Smith, Rebecca G.;
    • Pishva, Ehsan;
    • Shireby, Gemma;
    • Smith, Adam R.;
    • Roubroeks, Janou A. Y.;
    • Hannon, Eilis;
    • Wheildon, Gregory;
    • Mastroeni, Diego;
    • Gasparoni, Gilles;
    • Riemenschneider, Matthias;
    • Giese, Armin;
    • Sharp, Andrew J.;
    • Schalkwyk, Leonard;
    • Haroutunian, Vahram;
    • Viechtbauer, Wolfgang;
    • van den Hove, Daniel L. A.;
    • Weedon, Michael;
    • Brokaw, Danielle;
    • Francis, Paul T.;
    • Thomas, Alan J.
    Publication type:
    Article
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    RNA-Seq in 296 phased trios provides a high-resolution map of genomic imprinting.

    Published in:
    BMC Biology, 2019, v. 17, n. 1, p. 1, doi. 10.1186/s12915-019-0674-0
    By:
    • Jadhav, Bharati;
    • Monajemi, Ramin;
    • Gagalova, Kristina K.;
    • Ho, Daniel;
    • Draisma, Harmen H. M.;
    • van de Wiel, Mark A.;
    • Franke, Lude;
    • Heijmans, Bastiaan T.;
    • van Meurs, Joyce;
    • Jansen, Rick;
    • 't Hoen, Peter A. C.;
    • Sharp, Andrew J.;
    • Kiełbasa, Szymon M.
    Publication type:
    Article
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    Loss of RNA expression and allele-specific expression associated with congenital heart disease.

    Published in:
    Nature Communications, 2016, v. 7, n. 9, p. 12824, doi. 10.1038/ncomms12824
    By:
    • McKean, David M.;
    • Homsy, Jason;
    • Wakimoto, Hiroko;
    • Patel, Neil;
    • Gorham, Joshua;
    • DePalma, Steven R.;
    • Ware, James S.;
    • Zaidi, Samir;
    • Ma, Wenji;
    • Patel, Nihir;
    • Lifton, Richard P.;
    • Chung, Wendy K.;
    • Kim, Richard;
    • Shen, Yufeng;
    • Brueckner, Martina;
    • Goldmuntz, Elizabeth;
    • Sharp, Andrew J.;
    • Seidman, Christine E.;
    • Gelb, Bruce D.;
    • Seidman, J. G.
    Publication type:
    Article
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    Opposite Phenotypes of Muscle Strength and Locomotor Function in Mouse Models of Partial Trisomy and Monosomy 21 for the Proximal Hspa13-App Region.

    Published in:
    PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005062
    By:
    • Brault, Véronique;
    • Duchon, Arnaud;
    • Romestaing, Caroline;
    • Sahun, Ignasi;
    • Pothion, Stéphanie;
    • Karout, Mona;
    • Borel, Christelle;
    • Dembele, Doulaye;
    • Bizot, Jean-Charles;
    • Messaddeq, Nadia;
    • Sharp, Andrew J.;
    • Roussel, Damien;
    • Antonarakis, Stylianos E;
    • Dierssen, Mara;
    • Hérault, Yann
    Publication type:
    Article
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    Dynamics of DNA Methylation in Recent Human and Great Ape Evolution.

    Published in:
    PLoS Genetics, 2013, v. 9, n. 9, p. 1, doi. 10.1371/journal.pgen.1003763
    By:
    • Hernando-Herraez, Irene;
    • Prado-Martinez, Javier;
    • Garg, Paras;
    • Fernandez-Callejo, Marcos;
    • Heyn, Holger;
    • Hvilsom, Christina;
    • Navarro, Arcadi;
    • Esteller, Manel;
    • Sharp, Andrew J.;
    • Marques-Bonet, Tomas
    Publication type:
    Article
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