Works matching AU Smith, Joshua D.

Results: 91
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    Whole-Exome Sequencing and hiPSC Cardiomyocyte Models Identify MYRIP , TRAPPC11 , and SLC27A6 of Potential Importance to Left Ventricular Hypertrophy in an African Ancestry Population.

    Published in:
    Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.588452
    By:
    • Irvin, Marguerite R.;
    • Aggarwal, Praful;
    • Claas, Steven A.;
    • de las Fuentes, Lisa;
    • Do, Anh N.;
    • Gu, C. Charles;
    • Matter, Andrea;
    • Olson, Benjamin S.;
    • Patki, Amit;
    • Schwander, Karen;
    • Smith, Joshua D.;
    • Srinivasasainagendra, Vinodh;
    • Tiwari, Hemant K.;
    • Turner, Amy J.;
    • Nickerson, Deborah A.;
    • Rao, Dabeeru C.;
    • Broeckel, Ulrich;
    • Arnett, Donna K.
    Publication type:
    Article
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    Challenges and solutions for gene identification in the presence of familial locus heterogeneity.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1207, doi. 10.1038/ejhg.2014.266
    By:
    • Rehman, Atteeq U;
    • Santos-Cortez, Regie Lyn P;
    • Drummond, Meghan C;
    • Shahzad, Mohsin;
    • Lee, Kwanghyuk;
    • Morell, Robert J;
    • Ansar, Muhammad;
    • Jan, Abid;
    • Wang, Xin;
    • Aziz, Abdul;
    • Riazuddin, Saima;
    • Smith, Joshua D;
    • Wang, Gao T;
    • Ahmed, Zubair M;
    • Gul, Khitab;
    • Shearer, A Eliot;
    • Smith, Richard J H;
    • Shendure, Jay;
    • Bamshad, Michael J;
    • Nickerson, Deborah A
    Publication type:
    Article
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    Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

    Published in:
    Nature Genetics, 2010, v. 42, n. 9, p. 790, doi. 10.1038/ng.646
    By:
    • Ng, Sarah B.;
    • Bigham, Abigail W.;
    • Buckingham, Kati J.;
    • Hannibal, Mark C.;
    • McMillin, Margaret J.;
    • Gildersleeve, Heidi I.;
    • Beck, Anita E.;
    • Tabor, Holly K.;
    • Cooper, Gregory M.;
    • Mefford, Heather C.;
    • Lee, Choli;
    • Turner, Emily H.;
    • Smith, Joshua D.;
    • Rieder, Mark J.;
    • Yoshiura, Koh-ichiro;
    • Matsumoto, Naomichi;
    • Ohta, Tohru;
    • Niikawa, Norio;
    • Nickerson, Deborah A.;
    • Bamshad, Michael J.
    Publication type:
    Article
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    Identification, Replication, and Functional Fine-Mapping of Expression Quantitative Trait Loci in Primary Human Liver Tissue.

    Published in:
    PLoS Genetics, 2011, v. 7, n. 5, p. 1, doi. 10.1371/journal.pgen.1002078
    By:
    • Innocenti, Federico;
    • Cooper, Gregory M.;
    • Stanaway, Ian B.;
    • Gamazon, Eric R.;
    • Smith, Joshua D.;
    • Mirkov, Snezana;
    • Ramirez, Jacqueline;
    • Liu, Wanqing;
    • Lin, Yvonne S.;
    • Moloney, Cliona;
    • Aldred, Shelly Force;
    • Trinklein, Nathan D.;
    • Schuetz, Erin;
    • Nickerson, Deborah A.;
    • Thummel, Ken E.;
    • Rieder, Mark J.;
    • Rettie, Allan E.;
    • Ratain, Mark J.;
    • Cox, Nancy J.;
    • Brown, Christopher D.
    Publication type:
    Article
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    Tumor-Infiltrating Lymphocytes in Patients With Advanced Laryngeal Cancer Undergoing Bioselection.

    Published in:
    Otolaryngology-Head & Neck Surgery, 2022, v. 166, n. 3, p. 498, doi. 10.1177/01945998211013765
    By:
    • Heft Neal, Molly E.;
    • Smith, Joshua D.;
    • Birkeland, Andrew C.;
    • Haring, Catherine T.;
    • Chinn, Steven B.;
    • Shuman, Andrew G.;
    • Casper, Keith A.;
    • Malloy, Kelly M.;
    • Stucken, Chaz L.;
    • Mclean, Scott A.;
    • Rosko, Andrew J.;
    • Mierzwa, Michelle L.;
    • Shah, Jennifer;
    • Schonewolf, Caitlin;
    • Swiecicki, Paul L.;
    • Worden, Francis P.;
    • Wolf, Gregory T.;
    • Bradford, Carol R.;
    • Prince, Mark E.P.;
    • Brenner, J. Chad
    Publication type:
    Article
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    Mutations in TJP2 cause progressive cholestatic liver disease.

    Published in:
    Nature Genetics, 2014, v. 46, n. 4, p. 326, doi. 10.1038/ng.2918
    By:
    • Sambrotta, Melissa;
    • Strautnieks, Sandra;
    • Papouli, Efterpi;
    • Rushton, Peter;
    • Clark, Barnaby E;
    • Parry, David A;
    • Logan, Clare V;
    • Newbury, Lucy J;
    • Kamath, Binita M;
    • Ling, Simon;
    • Grammatikopoulos, Tassos;
    • Wagner, Bart E;
    • Magee, John C;
    • Sokol, Ronald J;
    • Mieli-Vergani, Giorgina;
    • Smith, Joshua D;
    • Johnson, Colin A;
    • McClean, Patricia;
    • Simpson, Michael A;
    • Knisely, A S
    Publication type:
    Article
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    Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.

    Published in:
    Birth Defects Research, 2019, v. 111, n. 20, p. 1618, doi. 10.1002/bdr2.1554
    By:
    • Jenkins, Mary M.;
    • Almli, Lynn M.;
    • Pangilinan, Faith;
    • Chong, Jessica X.;
    • Blue, Elizabeth E.;
    • Shapira, Stuart K.;
    • White, Janson;
    • McGoldrick, Daniel;
    • Smith, Joshua D.;
    • Mullikin, James C.;
    • Bean, Christopher J.;
    • Nembhard, Wendy N.;
    • Lou, Xiang‐Yang;
    • Shaw, Gary M.;
    • Romitti, Paul A.;
    • Keppler‐Noreuil, Kim;
    • Yazdy, Mahsa M.;
    • Kay, Denise M.;
    • Carter, Tonia C.;
    • Olshan, Andrew F.
    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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    Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 4, p. 381, doi. 10.1002/ajmg.b.32527
    By:
    • Kim, Daniel Seung;
    • Burt, Amber A.;
    • Ranchalis, Jane E.;
    • Wilmot, Beth;
    • Smith, Joshua D.;
    • Patterson, Karynne E.;
    • Coe, Bradley P.;
    • Li, Yatong K.;
    • Bamshad, Michael J.;
    • Nikolas, Molly;
    • Eichler, Evan E.;
    • Swanson, James M.;
    • Nigg, Joel T.;
    • Nickerson, Deborah A.;
    • Jarvik, Gail P.
    Publication type:
    Article
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    Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.

    Published in:
    Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01031-z
    By:
    • Venner, Eric;
    • Muzny, Donna;
    • Smith, Joshua D.;
    • Walker, Kimberly;
    • Neben, Cynthia L.;
    • Lockwood, Christina M.;
    • Empey, Phillip E.;
    • Metcalf, Ginger A.;
    • Kachulis, Chris;
    • Mian, Sana;
    • Musick, Anjene;
    • Rehm, Heidi L.;
    • Harrison, Steven;
    • Gabriel, Stacey;
    • Gibbs, Richard A.;
    • Nickerson, Deborah;
    • Zhou, Alicia Y.;
    • Doheny, Kimberly;
    • Ozenberger, Bradley;
    • Topper, Scott E.
    Publication type:
    Article
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    Tumor immune microenvironment alterations using induction cetuximab in a phase II trial of deintensified therapy for p16‐positive oropharynx cancer.

    Published in:
    Head & Neck, 2023, v. 45, n. 5, p. 1281, doi. 10.1002/hed.27344
    By:
    • Smith, Joshua D.;
    • Ludwig, Megan L.;
    • Bhangale, Apurva D.;
    • Brummel, Collin;
    • Swiecicki, Paul L.;
    • Worden, Francis P.;
    • Chinn, Steven B.;
    • Stucken, Chaz L.;
    • Rosko, Andrew J.;
    • Prince, Mark E. P.;
    • Malloy, Kelly M.;
    • Casper, Keith A.;
    • Bradford, Carol R.;
    • Chepeha, Douglas B.;
    • Shah, Jennifer;
    • Schonewolf, Caitlin A.;
    • McHugh, Jonathon B.;
    • Nyati, Mukesh K.;
    • Eisbruch, Avraham;
    • Mierzwa, Michelle L.
    Publication type:
    Article
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    Mutational profiles of persistent/recurrent laryngeal squamous cell carcinoma.

    Published in:
    Head & Neck, 2019, v. 41, n. 2, p. 423, doi. 10.1002/hed.25444
    By:
    • Smith, Joshua D.;
    • Birkeland, Andrew C.;
    • Rosko, Andrew J.;
    • Hoesli, Rebecca C.;
    • Foltin, Susan K.;
    • Swiecicki, Paul;
    • Mierzwa, Michelle;
    • Chinn, Steven B.;
    • Shuman, Andrew G.;
    • Malloy, Kelly M.;
    • Casper, Keith A.;
    • McLean, Scott A.;
    • Wolf, Gregory T.;
    • Bradford, Carol R.;
    • Prince, Mark E.;
    • Brenner, John Chad;
    • Spector, Matthew E.
    Publication type:
    Article
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    Rare Variation Facilitates Inferences of Fine-Scale Population Structure in Humans.

    Published in:
    Molecular Biology & Evolution, 2015, v. 32, n. 3, p. 653, doi. 10.1093/molbev/msu326
    By:
    • O’Connor, Timothy D.;
    • Fu, Wenqing;
    • Mychaleckyj, Josyf C.;
    • Logsdon, Benjamin;
    • Auer, Paul;
    • Carlson, Christopher S.;
    • Leal, Suzanne M.;
    • Smith, Joshua D.;
    • Rieder, Mark J.;
    • Bamshad, Michael J.;
    • Nickerson, Deborah A.;
    • Akey, Joshua M.
    Publication type:
    Article
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    Postacute COVID-19 Laryngeal Injury and Dysfunction.

    Published in:
    OTO Open: The Official Open Access Journal of the American Academy of Otolaryngology Head & Neck Surgery Foundation, 2021, v. 5, n. 3, p. 1, doi. 10.1177/2473974X211041040
    By:
    • Neevel, Andrew J.;
    • Smith, Joshua D.;
    • Morrison, Robert J.;
    • Hogikyan, Norman D.;
    • Kupfer, Robbi A.;
    • Stein, Andrew P.
    Publication type:
    Article
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    Association of Sickle Cell Trait With Chronic Kidney Disease and Albuminuria in African Americans.

    Published in:
    JAMA: Journal of the American Medical Association, 2014, v. 312, n. 20, p. 2115, doi. 10.1001/jama.2014.15063
    By:
    • Naik, Rakhi P.;
    • Derebail, Vimal K.;
    • Grams, Morgan E.;
    • Franceschini, Nora;
    • Auer, Paul L.;
    • Peloso, Gina M.;
    • Young, Bessie A.;
    • Lettre, Guillaume;
    • Peralta, Carmen A.;
    • Katz, Ronit;
    • Hyacinth, Hyacinth I.;
    • Quarells, Rakale C.;
    • Grove, Megan L.;
    • Bick, Alexander G.;
    • Fontanillas, Pierre;
    • Rich, Stephen S.;
    • Smith, Joshua D.;
    • Boerwinkle, Eric;
    • Rosamond, Wayne D.;
    • Kaoru Ito
    Publication type:
    Article
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    Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.

    Published in:
    Human Mutation, 1998, v. 11, n. 4, p. 286, doi. 10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B
    By:
    • Gallione, Carol J.;
    • Klaus, Daniel J.;
    • Yeh, Eric Y.;
    • Stenzel, Timothy T.;
    • Xue, Yan;
    • Anthony, Kara B.;
    • McAllister, Kimberly A.;
    • Baldwin, Melanie A.;
    • Berg, Jonathan N.;
    • Lux, Andreas;
    • Smith, Joshua D.;
    • Vary, Calvin P. H.;
    • Craigen, William J.;
    • Westermann, CJJ;
    • Warner, Mary L.;
    • Miller, York E.;
    • Jackson, C. Eugene;
    • Guttmacher, Alan E.;
    • Marchuk, Douglas A.
    Publication type:
    Article
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    Analysis of tumor-infiltrating CD103 resident memory T-cell content in recurrent laryngeal squamous cell carcinoma.

    Published in:
    Cancer Immunology, Immunotherapy, 2019, v. 68, n. 2, p. 213, doi. 10.1007/s00262-018-2256-3
    By:
    • Mann, Jacqueline E.;
    • Smith, Joshua D.;
    • Birkeland, Andrew C.;
    • Bellile, Emily;
    • Swiecicki, Paul;
    • Mierzwa, Michelle;
    • Chinn, Steven B.;
    • Shuman, Andrew G.;
    • Malloy, Kelly M.;
    • Casper, Keith A.;
    • McLean, Scott A.;
    • Moyer, Jeffery S.;
    • Wolf, Gregory T.;
    • Bradford, Carol R.;
    • Prince, Mark E.;
    • Carey, Thomas E.;
    • McHugh, Jonathan B.;
    • Spector, Matthew E.;
    • Brenner, J. Chad
    Publication type:
    Article
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