Works matching AU Shaffer, Lisa

Results: 112
    1

    MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

    Published in:
    Neurogenetics, 2013, v. 14, n. 2, p. 99, doi. 10.1007/s10048-013-0356-y
    By:
    • Paciorkowski, Alex;
    • Traylor, Ryan;
    • Rosenfeld, Jill;
    • Hoover, Jacqueline;
    • Harris, Catharine;
    • Winter, Susan;
    • Lacassie, Yves;
    • Bialer, Martin;
    • Lamb, Allen;
    • Schultz, Roger;
    • Berry-Kravis, Elizabeth;
    • Porter, Brenda;
    • Falk, Marni;
    • Venkat, Anu;
    • Vanzo, Rena;
    • Cohen, Julie;
    • Fatemi, Ali;
    • Dobyns, William;
    • Shaffer, Lisa;
    • Ballif, Blake
    Publication type:
    Article
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    Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 2, p. 139, doi. 10.1038/sj.ejhg.5201302
    By:
    • Gajecka, Marzena;
    • Wei Yu;
    • Ballif, Blake C.;
    • Glotzbach, Caron D.;
    • Bailey, Kristen A.;
    • Shaw, Chad A.;
    • Kashork, Catherine D.;
    • Heilstedt, Heidi A.;
    • Ansel, David A.;
    • Theisen, Aaron;
    • Rice, Ritva;
    • Rice, David P.C.;
    • Shaffer, Lisa G.
    Publication type:
    Article
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    Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1293, doi. 10.1038/ng.3120
    By:
    • Antonacci, Francesca;
    • Miroballo, Mattia;
    • Dennis, Megan Y;
    • Sudmant, Peter H;
    • Malig, Maika;
    • Denman, Laura;
    • Munson, Brenton;
    • Huddleston, John;
    • Vives, Laura;
    • Raja, Archana;
    • Eichler, Evan E;
    • Steinberg, Karyn Meltz;
    • Graves, Tina A;
    • Wilson, Richard K;
    • Rosenfeld, Jill A;
    • Stuart, Andrew;
    • Tang, Joyce;
    • Amemiya, Chris T;
    • Shaffer, Lisa G
    Publication type:
    Article
    11

    A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.

    Published in:
    Nature Genetics, 2010, v. 42, n. 9, p. 745, doi. 10.1038/ng.643
    By:
    • Antonacci, Francesca;
    • Kidd, Jeffrey M.;
    • Marques-Bonet, Tomas;
    • Teague, Brian;
    • Ventura, Mario;
    • Girirajan, Santhosh;
    • Alkan, Can;
    • Campbell, Catarina D.;
    • Vives, Laura;
    • Malig, Maika;
    • Rosenfeld, Jill A.;
    • Ballif, Blake C.;
    • Shaffer, Lisa G.;
    • Graves, Tina A.;
    • Wilson, Richard K.;
    • Schwartz, David C.;
    • Eichler, Evan E.
    Publication type:
    Article
    12

    Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2.

    Published in:
    Nature Genetics, 2007, v. 39, n. 9, p. 1071, doi. 10.1038/ng2107
    By:
    • Ballif, Blake C.;
    • Hornor, Sara A.;
    • Jenkins, Elizabeth;
    • Madan-Khetarpal, Suneeta;
    • Surti, Urvashi;
    • Jackson, Kelly E.;
    • Asamoah, Alexander;
    • Brock, Pamela L.;
    • Gowans, Gordon C.;
    • Conway, Robert L.;
    • Graham Jr., John M.;
    • Medne, Livija;
    • Zackai, Elaine H.;
    • Shaikh, Tamim H.;
    • Geoghegan, Joel;
    • Selzer, Rebecca R.;
    • Eis, Peggy S.;
    • Bejjani, Bassem A.;
    • Shaffer, Lisa G.
    Publication type:
    Article
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    Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations.

    Published in:
    1997
    By:
    • HSU, LILLIAN Y. F.;
    • YU, MING-TSUNG;
    • NEU, RICHARD L.;
    • VAN DYKE, DANIEL L.;
    • BENN, PETER A.;
    • BRADSHAW, CHRISTY L.;
    • SHAFFER, LISA G.;
    • HIGGINS, RODNEY R.;
    • KHODR, GABRIEL S.;
    • MORTON, CYNTHIA C.;
    • WANG, HUNGSHU;
    • BROTHMAN, ARTHUR R.;
    • CHADWICK, DIANNE;
    • DISTECHE, CHRISTINE M.;
    • JENKINS, LAUREN S.;
    • KALOUSEK, DAGMAR K.;
    • PANTZAR, TAPIO J.;
    • WYATT, PHILIP;
    • Hsu, L Y;
    • Yu, M T
    Publication type:
    journal article
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    Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 345, doi. 10.1002/ajmg.a.36866
    By:
    • Rosenfeld, Jill A.;
    • Fox, Joyce E.;
    • Descartes, Maria;
    • Brewer, Fallon;
    • Stroud, Tracy;
    • Gorski, Jerome L.;
    • Upton, Sheila J.;
    • Moeschler, John B.;
    • Monteleone, Berrin;
    • Neill, Nicholas J.;
    • Lamb, Allen N.;
    • Ballif, Blake C.;
    • Shaffer, Lisa G.;
    • Ravnan, J. Britt
    Publication type:
    Article
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    Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 62, doi. 10.1002/ajmg.a.36201
    By:
    • Chowdhury, Shimul;
    • Bandholz, Anne M.;
    • Parkash, Sandhya;
    • Dyack, Sarah;
    • Rideout, Andrea L.;
    • Leppig, Kathleen A.;
    • Thiese, Heidi;
    • Wheeler, Patricia G.;
    • Tsang, Marilyn;
    • Ballif, Blake C.;
    • Shaffer, Lisa G.;
    • Torchia, Beth S.;
    • Ellison, Jay W.;
    • Rosenfeld, Jill A.
    Publication type:
    Article
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    A case of segmental paternal isodisomy of chromosome 14.

    Published in:
    Human Genetics, 2002, v. 110, n. 3, p. 251, doi. 10.1007/s00439-002-0688-4
    By:
    • Coveler, Karen J.;
    • Yang, Sam P.;
    • Sutton, Reid V.;
    • Milstein, Jay M.;
    • Yuan-Qing Wu;
    • Bois, Cami;
    • Beischel, Linda S.;
    • Johnson, John P.;
    • Shaffer, Lisa G.
    Publication type:
    Article
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    Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

    Published in:
    Human Molecular Genetics, 2011, v. 20, n. 19, p. 3769, doi. 10.1093/hmg/ddr293
    By:
    • Luo, Yue;
    • Hermetz, Karen E.;
    • Jackson, Jodi M.;
    • Mulle, Jennifer G.;
    • Dodd, Anne;
    • Tsuchiya, Karen D.;
    • Ballif, Blake C.;
    • Shaffer, Lisa G.;
    • Cody, Jannine D.;
    • Ledbetter, David H.;
    • Martin, Christa L.;
    • Rudd, M. Katharine
    Publication type:
    Article