Works matching AU Chung, Wendy


Results: 376
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    Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophy.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2797, doi. 10.1093/brain/awaf074
    By:
    • Simon, Christian M;
    • Delestrée, Nicolas;
    • Montes, Jacqueline;
    • Sowoidnich, Leonie;
    • Gerstner, Florian;
    • Carranza, Erick;
    • Buettner, Jannik M;
    • Pagiazitis, John G;
    • Prat-Ortega, Genis;
    • Ensel, Scott;
    • Donadio, Serena;
    • Dreilich, Vanessa;
    • Carlini, Maria J;
    • Garcia, Jose L;
    • Kratimenos, Panagiotis;
    • Chung, Wendy K;
    • Sumner, Charlotte J;
    • Weimer, Louis H;
    • Pirondini, Elvira;
    • Capogrosso, Marco
    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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    Comparing 5-Year and Lifetime Risks of Breast Cancer using the Prospective Family Study Cohort.

    Published in:
    2021
    By:
    • MacInnis, Robert J;
    • Knight, Julia A;
    • Chung, Wendy K;
    • Milne, Roger L;
    • Whittemore, Alice S;
    • Buchsbaum, Richard;
    • Liao, Yuyan;
    • Zeinomar, Nur;
    • Dite, Gillian S;
    • Southey, Melissa C;
    • Goldgar, David;
    • Giles, Graham G;
    • Kurian, Allison W;
    • Investigators, kConFab;
    • Andrulis, Irene L;
    • John, Esther M;
    • Daly, Mary B;
    • Buys, Saundra S;
    • Phillips, Kelly-Anne;
    • Hopper, John L
    Publication type:
    journal article
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    Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

    Published in:
    2019
    By:
    • Qian, Frank;
    • Wang, Shengfeng;
    • Mitchell, Jonathan;
    • McGuffog, Lesley;
    • Barrowdale, Daniel;
    • Leslie, Goska;
    • Oosterwijk, Jan C;
    • Chung, Wendy K;
    • Evans, D Gareth;
    • Engel, Christoph;
    • Kast, Karin;
    • Aalfs, Cora M;
    • Adank, Muriel A;
    • Adlard, Julian;
    • Agnarsson, Bjarni A;
    • Aittomäki, Kristiina;
    • Alducci, Elisa;
    • Andrulis, Irene L;
    • Arun, Banu K;
    • Ausems, Margreet G E M
    Publication type:
    journal article
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    Risk-Reducing Oophorectomy and Breast Cancer Risk Across the Spectrum of Familial Risk.

    Published in:
    2019
    By:
    • Terry, Mary Beth;
    • Daly, Mary B;
    • Phillips, Kelly Anne;
    • Ma, Xinran;
    • Zeinomar, Nur;
    • Leoce, Nicole;
    • Dite, Gillian S;
    • MacInnis, Robert J;
    • Chung, Wendy K;
    • Knight, Julia A;
    • Southey, Melissa C;
    • Milne, Roger L;
    • Goldgar, David;
    • Giles, Graham G;
    • Weideman, Prue C;
    • Glendon, Gord;
    • Buchsbaum, Richard;
    • Andrulis, Irene L;
    • John, Esther M;
    • Buys, Saundra S
    Publication type:
    journal article
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    Regular use of aspirin and other non-steroidal anti-inflammatory drugs and breast cancer risk for women at familial or genetic risk: a cohort study.

    Published in:
    2019
    By:
    • Kehm, Rebecca D.;
    • Hopper, John L.;
    • John, Esther M.;
    • Phillips, Kelly-Anne;
    • MacInnis, Robert J.;
    • Dite, Gillian S.;
    • Milne, Roger L.;
    • Liao, Yuyan;
    • Zeinomar, Nur;
    • Knight, Julia A.;
    • Southey, Melissa C.;
    • Vahdat, Linda;
    • Kornhauser, Naomi;
    • Cigler, Tessa;
    • Chung, Wendy K.;
    • Giles, Graham G.;
    • McLachlan, Sue-Anne;
    • Friedlander, Michael L.;
    • Weideman, Prue C.;
    • Glendon, Gord
    Publication type:
    journal article
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    Age-specific breast cancer risk by body mass index and familial risk: prospective family study cohort (ProF-SC).

    Published in:
    2018
    By:
    • Hopper, John L.;
    • Dite, Gillian S.;
    • MacInnis, Robert J.;
    • Liao, Yuyan;
    • Zeinomar, Nur;
    • Knight, Julia A.;
    • Southey, Melissa C.;
    • Milne, Roger L.;
    • Chung, Wendy K.;
    • Giles, Graham G.;
    • Genkinger, Jeanine M.;
    • McLachlan, Sue-Anne;
    • Friedlander, Michael L.;
    • Antoniou, Antonis C.;
    • Weideman, Prue C.;
    • Glendon, Gord;
    • Nesci, Stephanie;
    • Andrulis, Irene L.;
    • Buys, Saundra S.;
    • Daly, Mary B.
    Publication type:
    journal article
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    Choroidal metastasis in breast cancer.

    Published in:
    Surgical Practice, 2023, v. 27, n. 3, p. 190, doi. 10.1111/1744-1633.12618
    By:
    • Siu Yuk Wo, Aaron;
    • Mak Yan Sin, Rita;
    • Au‐Yeung Chung Ling, Karen;
    • Yeuk‐hei, Ling;
    • Lai Yee Tak, Alta;
    • Wong Wai Chung, Wendy
    Publication type:
    Article
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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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    De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

    Published in:
    Neurogenetics, 2016, v. 17, n. 1, p. 43, doi. 10.1007/s10048-015-0466-9
    By:
    • Shang, Linshan;
    • Henderson, Lindsay;
    • Cho, Megan;
    • Petrey, Donald;
    • Fong, Chin-To;
    • Haude, Katrina;
    • Shur, Natasha;
    • Lundberg, Julie;
    • Hauser, Natalie;
    • Carmichael, Jason;
    • Innis, Jeffrey;
    • Schuette, Jane;
    • Wu, Yvonne;
    • Asaikar, Shailesh;
    • Pearson, Margaret;
    • Folk, Leandra;
    • Retterer, Kyle;
    • Monaghan, Kristin;
    • Chung, Wendy
    Publication type:
    Article
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    Mutations in ARID2 are associated with intellectual disabilities.

    Published in:
    Neurogenetics, 2015, v. 16, n. 4, p. 307, doi. 10.1007/s10048-015-0454-0
    By:
    • Shang, Linshan;
    • Cho, Megan;
    • Retterer, Kyle;
    • Folk, Leandra;
    • Humberson, Jennifer;
    • Rohena, Luis;
    • Sidhu, Alpa;
    • Saliganan, Sheila;
    • Iglesias, Alejandro;
    • Vitazka, Patrik;
    • Juusola, Jane;
    • O'Donnell-Luria, Anne;
    • Shen, Yufeng;
    • Chung, Wendy
    Publication type:
    Article
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    Glucokinase mutations in young children with hyperglycemia.

    Published in:
    Diabetes/Metabolism Research & Reviews, 2006, v. 22, n. 5, p. 348, doi. 10.1002/dmrr.622
    By:
    • Codner, Ethel;
    • Deng, Liyong;
    • Pérez-Bravo, Francisco;
    • Román, Rossana;
    • Lanzano, Patricia;
    • Cassorla, Fernando;
    • Chung, Wendy K.
    Publication type:
    Article
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    Frequency of GBA Variants in Autopsy-proven Multiple System Atrophy.

    Published in:
    Movement Disorders Clinical Practice, 2017, v. 4, n. 4, p. 574, doi. 10.1002/mdc3.12481
    By:
    • Sklerov, Miriam;
    • Kang, Un J.;
    • Liong, Christopher;
    • Clark, Lorraine;
    • Marder, Karen;
    • Pauciulo, Michael;
    • Nichols, William C.;
    • Chung, Wendy K.;
    • Honig, Lawrence S.;
    • Cortes, Etty;
    • Vonsattel, Jean Paul;
    • Alcalay, Roy N.
    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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    Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.

    Published in:
    Science Translational Medicine, 2024, v. 16, n. 769, p. 1, doi. 10.1126/scitranslmed.adj0085
    By:
    • Bisikirska, Brygida;
    • Labella, Rossella;
    • Cuesta-Dominguez, Alvaro;
    • Luo, Na;
    • De Angelis, Jessica;
    • Mosialou, Ioanna;
    • Lin, Chyuan-Sheng;
    • Beck, David;
    • Lata, Sneh;
    • Shyu, Peter Timothy;
    • McMahon, Donald J.;
    • Guo, Edward;
    • Hagen, Jacob;
    • Chung, Wendy K.;
    • Shane, Elizabeth;
    • Cohen, Adi;
    • Kousteni, Stavroula
    Publication type:
    Article
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    PH Roundtable: Genetics and Pulmonary Hypertension.

    Published in:
    Advances in Pulmonary Hypertension, 2021, v. 20, n. 5, p. 168, doi. 10.21693/1933-088X-20.5.168
    By:
    • Elliott, Greg;
    • Krishnan, Usha S.;
    • Chung, Wendy K.;
    • Yu, Paul;
    • Austin, Eric D
    Publication type:
    Article
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    Genomics of Pulmonary Hypertension.

    Published in:
    Advances in Pulmonary Hypertension, 2021, v. 20, n. 5, p. 142, doi. 10.21693/1933-088X-20.5.142
    By:
    • Welch, Carrie Lynn;
    • Chung, Wendy K.
    Publication type:
    Article
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    The Congenital Heart Disease Genetic Network Study: Cohort description.

    Published in:
    PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0191319
    By:
    • Hoang, Thanh T.;
    • Goldmuntz, Elizabeth;
    • Roberts, Amy E.;
    • Chung, Wendy K.;
    • Kline, Jennie K.;
    • Deanfield, John E.;
    • Giardini, Alessandro;
    • Aleman, Adolfo;
    • Gelb, Bruce D.;
    • Mac Neal, Meghan;
    • Jr.Porter, George A.;
    • Kim, Richard;
    • Brueckner, Martina;
    • Lifton, Richard P.;
    • Edman, Sharon;
    • Woyciechowski, Stacy;
    • Mitchell, Laura E.;
    • Agopian, A. J.
    Publication type:
    Article
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    Human iPSC-Derived Neuronal Cells From CTBP1 -Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks.

    Published in:
    Frontiers in Neuroscience, 2020, p. N.PAG, doi. 10.3389/fnins.2020.562292
    By:
    • Vijayalingam, S.;
    • Ezekiel, Uthayashanker R.;
    • Xu, Fenglian;
    • Subramanian, T.;
    • Geerling, Elizabeth;
    • Hoelscher, Brittany;
    • San, KayKay;
    • Ganapathy, Aravinda;
    • Pemberton, Kyle;
    • Tycksen, Eric;
    • Pinto, Amelia K.;
    • Brien, James D.;
    • Beck, David B.;
    • Chung, Wendy K.;
    • Gurnett, Christina A.;
    • Chinnadurai, G.
    Publication type:
    Article