Works by Leppert, Mark


Results: 73
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    Searching for Human Epilepsy Genes: A Progress Report.

    Published in:
    Brain Pathology, 1993, v. 3, n. 4, p. 357, doi. 10.1111/j.1750-3639.1993.tb00764.x
    By:
    • Leppert, Mark;
    • McMahon, William M.;
    • Quattlebaum, Thomas G.;
    • Bjerre, Ingrid;
    • Zonana, Jonathan;
    • Shevell, Michael I.;
    • Andermann, Eva;
    • Rosales, Teodoro O.;
    • Ronen, Gabriel M.;
    • Connolly, Mary;
    • Anderson, V. Elving
    Publication type:
    Article
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    Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 1996, v. 81, n. 4, p. 1312, doi. 10.1210/jcem.81.4.8636323
    By:
    • HEATH III, HUNTER;
    • ODELBERG, SHANNON;
    • JACKSON, CHARLES E.;
    • TEH, BIN TEAN;
    • HAYWARD, NICHOLAS;
    • LARSSON, CATHARINA;
    • BUIST, NEIL R. M.;
    • KRAPCHO, KAREN J.;
    • HUNG, BENJAMIN C.;
    • CAPUANO, IRENE V.;
    • GARRETT, JAMES E.;
    • LEPPERT, MARK F.
    Publication type:
    Article
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    Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population.

    Published in:
    PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0052239
    By:
    • Matsunami, Nori;
    • Hadley, Dexter;
    • Hensel, Charles H.;
    • Christensen, G. Bryce;
    • Kim, Cecilia;
    • Frackelton, Edward;
    • Thomas, Kelly;
    • Silva, Renata Pellegrino da;
    • Stevens, Jeff;
    • Baird, Lisa;
    • Otterud, Brith;
    • Ho, Karen;
    • Varvil, Tena;
    • Leppert, Tami;
    • Lambert, Christophe G.;
    • Leppert, Mark;
    • Hakonarson, Hakon
    Publication type:
    Article
    7

    Human neuronal acetylcholine receptor A5-A3-B4 haplotypes are associated with multiple nicotine dependence phenotypes.

    Published in:
    Nicotine & Tobacco Research, 2009, v. 11, n. 7, p. 785, doi. 10.1093/ntr/ntp064
    By:
    • Baker, Timothy B.;
    • Weiss, Robert B.;
    • Bolt, Daniel;
    • Von Niederhausern, Andrew;
    • Fiore, Michael C.;
    • Dunn, Diane M.;
    • Piper, Megan E.;
    • Matsunami, Nori;
    • Smith, Stevens S.;
    • Coon, Hilary;
    • McMahon, William M.;
    • Scholand, Mary B.;
    • Singh, Nanda;
    • Hoidal, John R.;
    • Kim, Su-Young;
    • Leppert, Mark F.;
    • Cannon, Dale S.
    Publication type:
    Article
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    Exome Analysis of a Family with Wolff-Parkinson-White Syndrome Identifies a Novel Disease Locus.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2975, doi. 10.1002/ajmg.a.37297
    By:
    • Bowles, Neil E.;
    • Jou, Chuanchau J.;
    • Arrington, Cammon B.;
    • Kennedy, Brett J.;
    • Earl, Aubree;
    • Matsunami, Norisada;
    • Meyers, Lindsay L.;
    • Etheridge, Susan P.;
    • Saarel, Elizabeth V.;
    • Bleyl, Steven B.;
    • Yost, H. Joseph;
    • Yandell, Mark;
    • Leppert, Mark F.;
    • Tristani‐Firouzi, Martin;
    • Gruber, Peter J.
    Publication type:
    Article
    21

    A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3137, doi. 10.1002/ajmg.a.35664
    By:
    • Arrington, Cammon B.;
    • Bleyl, Steven B.;
    • Matsunami, Nori;
    • Bowles, Neil E.;
    • Leppert, Tami I.;
    • Demarest, Bradley L.;
    • Osborne, Karen;
    • Yoder, Bradley A.;
    • Byrne, Janice L.;
    • Schiffman, Joshua D.;
    • Null, Donald M.;
    • DiGeronimo, Robert;
    • Rollins, Michael;
    • Faix, Roger;
    • Comstock, Jessica;
    • Camp, Nicola J.;
    • Leppert, Mark F.;
    • Yost, H. Joseph;
    • Brunelli, Luca
    Publication type:
    Article
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    Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

    Published in:
    Nature, 1988, v. 336, n. 6199, p. 577, doi. 10.1038/336577a0
    By:
    • Gatti, Richard A.;
    • Berkel, Izzet;
    • Boder, Elena;
    • Braedt, Gary;
    • Charmley, Patrick;
    • Concannon, Patrick;
    • Ersoy, Fugen;
    • Foroud, Tatiana;
    • Jaspers, Nicholas G. J.;
    • Lange, Kenneth;
    • Lathrop, G. Mark;
    • Leppert, Mark;
    • Nakamura, Yusuke;
    • O'Connell, Peter;
    • Paterson, Malcolm;
    • Salser, Winston;
    • Sanal, Ozden;
    • Silver, Jack;
    • Sparkes, Robert S.;
    • Susi, Ellen
    Publication type:
    Article
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    A locus for febrile seizures (FEB3) maps to chromosome 2q23-24.

    Published in:
    1999
    By:
    • Peiffer, Andy;
    • Thompson, Joel;
    • Charlier, Carole;
    • Otterud, Brith;
    • Varvil, Tena;
    • Pappas, Chris;
    • Barnitz, Craig;
    • Gruenthal, Kristen;
    • Kuhn, Renée;
    • Leppert, Mark;
    • Peiffer, A;
    • Thompson, J;
    • Charlier, C;
    • Otterud, B;
    • Varvil, T;
    • Pappas, C;
    • Barnitz, C;
    • Gruenthal, K;
    • Kuhn, R;
    • Leppert, M
    Publication type:
    journal article
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    Future Research Directions in Acute Lung Injury.

    Published in:
    American Journal of Respiratory & Critical Care Medicine, 2003, v. 167, n. 7, p. 1027, doi. 10.1164/rccm.200208-966WS
    By:
    • Matthay, Michael A.;
    • Zimmerman, Guy A.;
    • Esmon, Charles;
    • Bhattacharya, Jahar;
    • Coller, Barry;
    • Doerschuk, Claire M.;
    • Floros, Joanna;
    • Gimbrone Jr, Michael A.;
    • Hoffman, Eric;
    • Hubmayr, Rolf D.;
    • Leppert, Mark;
    • Matalon, Sadis;
    • Munford, Robert;
    • Parsons, Polly;
    • Slutsky, Arthur S.;
    • Tracey, Kevin J.;
    • Ward, Peter;
    • Gail, Dorothy B.;
    • Harabin, Andrea L.
    Publication type:
    Article
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    Variation in the c heckpoint kinase 2 gene is associated with type 2 diabetes in multiple populations.

    Published in:
    Acta Diabetologica, 2010, v. 47, p. 199, doi. 10.1007/s00592-009-0162-z
    By:
    • North, Kari E.;
    • Franceschini, Nora;
    • Avery, Christy L.;
    • Baird, Lisa;
    • Graff, Mariaelisa;
    • Leppert, Mark;
    • Chung, Jay H.;
    • Jinghui Zhang;
    • Hanis, Craig;
    • Boerwinkle, Eric;
    • Volcik, Kelly A.;
    • Grove, Megan L.;
    • Mosley, Thomas H.;
    • Gu, Charles;
    • Heiss, Gerardo;
    • Pankow, James S.;
    • Couper, David J.;
    • Ballantyne, Christie M.;
    • Linda Kao, W. H.;
    • Weder, Alan B.
    Publication type:
    Article
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    Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms.

    Published in:
    Human Molecular Genetics, 2010, v. 19, n. 7, p. 1286, doi. 10.1093/hmg/ddq005
    By:
    • Bleyl, Steven B.;
    • Saijoh, Yukio;
    • Bax, Noortje A.M.;
    • Gittenberger-de Groot, Adriana C.;
    • Wisse, Lambertus J.;
    • Chapman, Susan C.;
    • Hunter, Jennifer;
    • Shiratori, Hidetaka;
    • Hamada, Hiroshi;
    • Yamada, Shigehito;
    • Shiota, Kohei;
    • Klewer, Scott E.;
    • Leppert, Mark F.;
    • Schoenwolf, Gary C.
    Publication type:
    Article
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    Allelic Loss in Colorectal Carcinoma.

    Published in:
    JAMA: Journal of the American Medical Association, 1989, v. 261, n. 21, p. 3099, doi. 10.1001/jama.1989.03420210047014
    By:
    • Kern, Scott E.;
    • Fearon, Eric R.;
    • Tersmette, Kasper W.F.;
    • Enterline, John P.;
    • Leppert, Mark;
    • Nakamura, Yusuke;
    • White, Ray;
    • Vogelstein, Bert;
    • Hamilton, Stanley R.
    Publication type:
    Article
    49

    Carriers of Rare Missense Variants in IFIH1 Are Protected from Psoriasis.

    Published in:
    Journal of Investigative Dermatology, 2010, v. 130, n. 12, p. 2768, doi. 10.1038/jid.2010.214
    By:
    • Yonghong Li;
    • Wilson Liao;
    • Cargill, Michele;
    • Chang, Monica;
    • Matsunami, Nori;
    • Bing-Jian Feng;
    • Poon, Annie;
    • Callis-Duffin, Kristina P.;
    • Catanese, Joseph J.;
    • Bowcock, Anne M.;
    • Leppert, Mark F.;
    • Pui-Yan Kwok;
    • Krueger, Gerald G.;
    • Begovich, Ann B.
    Publication type:
    Article
    50

    Further Genetic Evidence for Three Psoriasis-Risk Genes: ADAM33, CDKAL1, and PTPN22.

    Published in:
    Journal of Investigative Dermatology, 2009, v. 129, n. 3, p. 629, doi. 10.1038/jid.2008.297
    By:
    • Li, Yonghong;
    • Liao, Wilson;
    • Chang, Monica;
    • Schrodi, Steven J.;
    • Bui, Nam;
    • Catanese, Joseph J.;
    • Poon, Annie;
    • Matsunami, Nori;
    • Callis-Duffin, Kristina P.;
    • Leppert, Mark F.;
    • Bowcock, Anne M.;
    • Kwok, Pui-Yan;
    • Krueger, Gerald G.;
    • Begovich, Ann B.
    Publication type:
    Article