Works matching AU Chung, Wendy K.

Results: 305
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    A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.

    Published in:
    Neurogenetics, 2019, v. 20, n. 3, p. 129, doi. 10.1007/s10048-019-00578-1
    By:
    • Beck, David B.;
    • Subramanian, T.;
    • Vijayalingam, S.;
    • Ezekiel, Uthayashankar R.;
    • Donkervoort, Sandra;
    • Yang, Michele L.;
    • Dubbs, Holly A.;
    • Ortiz-Gonzalez, Xilma R.;
    • Lakhani, Shenela;
    • Segal, Devorah;
    • Au, Margaret;
    • Graham, John M.;
    • Verma, Sumit;
    • Waggoner, Darrel;
    • Shinawi, Marwan;
    • Bönnemann, Carsten G.;
    • Chung, Wendy K.;
    • Chinnadurai, G.
    Publication type:
    Article
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    Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies.

    Published in:
    Prenatal Diagnosis, 2022, v. 42, n. 7, p. 947, doi. 10.1002/pd.6153
    By:
    • Kernie, Catherine G.;
    • Wynn, Julia;
    • Rosenbaum, Allison;
    • de Voest, Jessica;
    • Galloway, Stephanie;
    • Giordano, Jessica;
    • Stover, Samantha;
    • Westerfield, Lauren;
    • Gilmore, Kelly;
    • Wapner, Ronald J.;
    • Van den Veyver, Ignatia B.;
    • Vora, Neeta L.;
    • Clifton, Rebecca G.;
    • Caughey, Aaron B.;
    • Chung, Wendy K.
    Publication type:
    Article
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    An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.

    Published in:
    Human Mutation, 2020, v. 41, n. 9, p. 1577, doi. 10.1002/humu.24061
    By:
    • Hawley, Megan H.;
    • Almontashiri, Naif;
    • Biesecker, Leslie G.;
    • Berger, Natalie;
    • Chung, Wendy K.;
    • Garcia, John;
    • Grebe, Theresa A.;
    • Kelly, Melissa A.;
    • Lebo, Matthew S.;
    • Macaya, Daniela;
    • Mei, Hui;
    • Platt, Julia;
    • Richard, Gabi;
    • Ryan, Ashley;
    • Thomson, Kate L.;
    • Vatta, Matteo;
    • Walsh, Roddy;
    • Ware, James S.;
    • Wheeler, Matthew;
    • Zouk, Hana
    Publication type:
    Article
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    Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.

    Published in:
    Human Mutation, 2018, v. 39, n. 12, p. 1875, doi. 10.1002/humu.23627
    By:
    • Granadillo, Jorge L.;
    • Chung, Wendy K.;
    • Hecht, Leah;
    • Corsten‐Janssen, Nicole;
    • Wegner, Daniel;
    • Nij Bijvank, Sebastiaan W.A.;
    • Toler, Tomi L.;
    • Pineda‐Alvarez, Daniel E.;
    • Douglas, Ganka;
    • Murphy, Joshua J.;
    • Shimony, Joshua;
    • Shinawi, Marwan
    Publication type:
    Article
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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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    Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

    Published in:
    Human Mutation, 2015, v. 36, n. 12, p. 1113, doi. 10.1002/humu.22904
    By:
    • Machado, Rajiv D.;
    • Southgate, Laura;
    • Eichstaedt, Christina A.;
    • Aldred, Micheala A.;
    • Austin, Eric D.;
    • Best, D. Hunter;
    • Chung, Wendy K.;
    • Benjamin, Nicola;
    • Elliott, C. Gregory;
    • Eyries, Mélanie;
    • Fischer, Christine;
    • Gräf, Stefan;
    • Hinderhofer, Katrin;
    • Humbert, Marc;
    • Keiles, Steven B.;
    • Loyd, James E.;
    • Morrell, Nicholas W.;
    • Newman, John H.;
    • Soubrier, Florent;
    • Trembath, Richard C.
    Publication type:
    Article
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    Pregnancy-Related Factors and Breast Cancer Risk for Women Across a Range of Familial Risk.

    Published in:
    JAMA Network Open, 2024, v. 7, n. 8, p. e2427441, doi. 10.1001/jamanetworkopen.2024.27441
    By:
    • McDonald, Jasmine A.;
    • Liao, Yuyan;
    • Knight, Julia A.;
    • John, Esther M.;
    • Kurian, Allison W.;
    • Daly, Mary;
    • Buys, Saundra S.;
    • Huang, Yun;
    • Frost, Caren J.;
    • Andrulis, Irene L.;
    • Colonna, Sarah V.;
    • Friedlander, Michael L.;
    • Hopper, John L.;
    • Chung, Wendy K.;
    • Genkinger, Jeanine M.;
    • MacInnis, Robert J.;
    • Terry, Mary Beth
    Publication type:
    Article
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    Recreational Physical Activity and Outcomes After Breast Cancer in Women at High Familial Risk.

    Published in:
    JNCI Cancer Spectrum, 2021, v. 5, n. 6, p. 1, doi. 10.1093/jncics/pkab090
    By:
    • Kehm, Rebecca D;
    • MacInnis, Robert J;
    • John, Esther M;
    • Liao, Yuyan;
    • Kurian, Allison W;
    • Genkinger, Jeanine M;
    • Knight, Julia A;
    • Colonna, Sarah V;
    • Chung, Wendy K;
    • Milne, Roger;
    • Zeinomar, Nur;
    • Dite, Gillian S;
    • Southey, Melissa C;
    • Giles, Graham G;
    • McLachlan, Sue-Anne;
    • Whitaker, Kristen D;
    • Friedlander, Michael L;
    • Weideman, Prue C;
    • Glendon, Gord;
    • Nesci, Stephanie
    Publication type:
    Article
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    Accuracy of Risk Estimates from the iPrevent Breast Cancer Risk Assessment and Management Tool.

    Published in:
    JNCI Cancer Spectrum, 2019, v. 3, n. 4, p. N.PAG, doi. 10.1093/jncics/pkz066
    By:
    • Phillips, Kelly-Anne;
    • Liao, Yuyan;
    • Milne, Roger L;
    • MacInnis, Robert J;
    • Collins, Ian M;
    • Buchsbaum, Richard;
    • Weideman, Prue C;
    • Bickerstaffe, Adrian;
    • Nesci, Stephanie;
    • Chung, Wendy K;
    • Southey, Melissa C;
    • Knight, Julia A;
    • Whittemore, Alice S;
    • Dite, Gillian S;
    • Goldgar, David;
    • Giles, Graham G;
    • Glendon, Gord;
    • Cuzick, Jack;
    • Antoniou, Antonis C;
    • Andrulis, Irene L
    Publication type:
    Article
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    Association of genetic and sulcal traits with executive function in congenital heart disease.

    Published in:
    Annals of Clinical & Translational Neurology, 2024, v. 11, n. 2, p. 278, doi. 10.1002/acn3.51950
    By:
    • Maleyeff, Lara;
    • Newburger, Jane W.;
    • Wypij, David;
    • Thomas, Nina H.;
    • Anagnoustou, Evdokia;
    • Brueckner, Martina;
    • Chung, Wendy K.;
    • Cleveland, John;
    • Cunningham, Sean;
    • Gelb, Bruce D.;
    • Goldmuntz, Elizabeth;
    • Hagler, Donald J;
    • Huang, Hao;
    • King, Eileen;
    • McQuillen, Patrick;
    • Miller, Thomas A.;
    • Norris‐Brilliant, Ami;
    • Porter, George A.;
    • Roberts, Amy E.;
    • Grant, P. Ellen
    Publication type:
    Article
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    Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study.

    Published in:
    Annals of Clinical & Translational Neurology, 2023, v. 10, n. 8, p. 1383, doi. 10.1002/acn3.51829
    By:
    • Tavakoli, Norma P.;
    • Gruber, Dorota;
    • Armstrong, Niki;
    • Chung, Wendy K.;
    • Maloney, Breanne;
    • Park, Sunju;
    • Wynn, Julia;
    • Koval‐Burt, Carrie;
    • Verdade, Lorraine;
    • Tegay, David H.;
    • Cohen, Lilian L.;
    • Shapiro, Natasha;
    • Kennedy, Annie;
    • Noritz, Garey;
    • Ciafaloni, Emma;
    • Weinberger, Barry;
    • Ellington, Marty;
    • Schleien, Charles;
    • Spinazzola, Regina;
    • Sood, Sunil
    Publication type:
    Article
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    Clinical Application of Whole-Exome Sequencing.

    Published in:
    JAMA Neurology, 2013, v. 70, n. 6, p. 788, doi. 10.1001/jamaneurol.2013.247
    By:
    • Liew, Wendy K. M.;
    • Ben-Omran, Tawfeg;
    • Darras, Basil T.;
    • Prabhu, Sanjay P.;
    • De Vivo, Darryl C.;
    • Vatta, Matteo;
    • Yaping Yang;
    • Eng, Christine M.;
    • Chung, Wendy K.
    Publication type:
    Article
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    Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

    Published in:
    Genes, 2022, v. 13, n. 1, p. 154, doi. 10.3390/genes13010154
    By:
    • Nagy, Dóra;
    • Verheyen, Sarah;
    • Wigby, Kristen M.;
    • Borovikov, Artem;
    • Sharkov, Artem;
    • Slegesky, Valerie;
    • Larson, Austin;
    • Fagerberg, Christina;
    • Brasch-Andersen, Charlotte;
    • Kibæk, Maria;
    • Bader, Ingrid;
    • Hernan, Rebecca;
    • High, Frances A.;
    • Chung, Wendy K.;
    • Schieving, Jolanda H.;
    • Behunova, Jana;
    • Smogavec, Mateja;
    • Laccone, Franco;
    • Witsch-Baumgartner, Martina;
    • Zobel, Joachim
    Publication type:
    Article
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    SUR1 As a New Therapeutic Target for Pulmonary Arterial Hypertension.

    Published in:
    American Journal of Respiratory Cell & Molecular Biology, 2022, v. 66, n. 5, p. 539, doi. 10.1165/rcmb.2021-0180oc
    By:
    • Le Ribeuz, Hélène;
    • Masson, Bastien;
    • Capuano, Véronique;
    • Dutheil, Mary;
    • Gooroochurn, Hans;
    • Boët, Angèle;
    • Ghigna, Maria-Rosa;
    • De Montpreville, Vincent;
    • Girerd, Barbara;
    • Lambert, Mélanie;
    • Mercier, Olaf;
    • Chung, Wendy K.;
    • Humbert, Marc;
    • Montani, David;
    • Antigny, Fabrice
    Publication type:
    Article
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    Precision medicine in diabetes: a Consensus Report from the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD).

    Published in:
    Diabetologia, 2020, v. 63, n. 9, p. 1671, doi. 10.1007/s00125-020-05181-w
    By:
    • Chung, Wendy K.;
    • Erion, Karel;
    • Florez, Jose C.;
    • Hattersley, Andrew T.;
    • Hivert, Marie-France;
    • Lee, Christine G.;
    • McCarthy, Mark I.;
    • Nolan, John J.;
    • Norris, Jill M.;
    • Pearson, Ewan R.;
    • Philipson, Louis;
    • McElvaine, Allison T.;
    • Cefalu, William T.;
    • Rich, Stephen S.;
    • Franks, Paul W.
    Publication type:
    Article
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    Generalizability of Polygenic Risk Scores for Breast Cancer Among Women With European, African, and Latinx Ancestry.

    Published in:
    JAMA Network Open, 2021, v. 4, n. 8, p. e2119084, doi. 10.1001/jamanetworkopen.2021.19084
    By:
    • Liu, Cong;
    • Zeinomar, Nur;
    • Chung, Wendy K.;
    • Kiryluk, Krzysztof;
    • Gharavi, Ali G.;
    • Hripcsak, George;
    • Crew, Katherine D.;
    • Shang, Ning;
    • Khan, Atlas;
    • Fasel, David;
    • Manolio, Teri A.;
    • Jarvik, Gail P.;
    • Rowley, Robb;
    • Justice, Ann E.;
    • Rahm, Alanna K.;
    • Fullerton, Stephanie M.;
    • Smoller, Jordan W.;
    • Larson, Eric B.;
    • Crane, Paul K.;
    • Dikilitas, Ozan
    Publication type:
    Article
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    SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31566-z
    By:
    • El Chehadeh, Salima;
    • Han, Kyung Ah;
    • Kim, Dongwook;
    • Jang, Gyubin;
    • Bakhtiari, Somayeh;
    • Lim, Dongseok;
    • Kim, Hee Young;
    • Kim, Jinhu;
    • Kim, Hyeonho;
    • Wynn, Julia;
    • Chung, Wendy K.;
    • Vitiello, Giuseppina;
    • Cutcutache, Ioana;
    • Page, Matthew;
    • Gecz, Jozef;
    • Harper, Kelly;
    • Han, Ah-reum;
    • Kim, Ho Min;
    • Wessels, Marja;
    • Bayat, Allan
    Publication type:
    Article
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    Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30678-w
    By:
    • Zhang, Xinyuan;
    • Lucas, Anastasia M.;
    • Veturi, Yogasudha;
    • Drivas, Theodore G.;
    • Bone, William P.;
    • Verma, Anurag;
    • Chung, Wendy K.;
    • Crosslin, David;
    • Denny, Joshua C.;
    • Hebbring, Scott;
    • Jarvik, Gail P.;
    • Kullo, Iftikhar;
    • Larson, Eric B.;
    • Rasmussen-Torvik, Laura J.;
    • Schaid, Daniel J.;
    • Smoller, Jordan W.;
    • Stanaway, Ian B.;
    • Wei, Wei-Qi;
    • Weng, Chunhua;
    • Ritchie, Marylyn D.
    Publication type:
    Article
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    SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy.

    Published in:
    PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0060113
    By:
    • Kobayashi, Dione T.;
    • Shi, Jing;
    • Stephen, Laurie;
    • Ballard, Karri L.;
    • Dewey, Ruth;
    • Mapes, James;
    • Chung, Brett;
    • McCarthy, Kathleen;
    • Swoboda, Kathryn J.;
    • Crawford, Thomas O.;
    • Li, Rebecca;
    • Plasterer, Thomas;
    • Joyce, Cynthia;
    • Chung, Wendy K.;
    • Kaufmann, Petra;
    • Darras, Basil T.;
    • Finkel, Richard S.;
    • Sproule, Douglas M.;
    • Martens, William B.;
    • McDermott, Michael P.
    Publication type:
    Article
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