Found: 8

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  • Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3616, doi. 10.1093/brain/awad172
    By:
    • Pinard, Amélie;
    • Ye, Wenlei;
    • Fraser, Stuart M;
    • Rosenfeld, Jill A;
    • Pichurin, Pavel;
    • Hickey, Scott E;
    • Guo, Dongchuan;
    • Cecchi, Alana C;
    • Boerio, Maura L;
    • Guey, Stéphanie;
    • Aloui, Chaker;
    • Lee, Kwanghyuk;
    • Kraemer, Markus;
    • Alyemni, Saleh Omar;
    • Genomics, University of Washington Center for Mendelian;
    • Bamshad, Michael J;
    • Nickerson, Deborah A;
    • Tournier-Lasserve, Elisabeth;
    • Haider, Shozeb;
    • Jin, Sheng Chih
    Publication type:
    Article

  • Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.

    Published in:
    BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0618-5
    By:
    • Schrauwen, Isabelle;
    • Chakchouk, Imen;
    • Acharya, Anushree;
    • Liaqat, Khurram;
    • Irfanullah;
    • University of Washington Center for Mendelian Genomics;
    • Nickerson, Deborah A.;
    • Bamshad, Michael J.;
    • Shah, Khadim;
    • Ahmad, Wasim;
    • Leal, Suzanne M.
    Publication type:
    Article

  • A Novel Variant in VPS13B Underlying Cohen Syndrome.

    Published in:
    BioMed Research International, 2023, p. 1, doi. 10.1155/2023/9993801
    By:
    • Hussain, Abrar;
    • Acharya, Anushree;
    • Bharadwaj, Thashi;
    • Genomics, University Of Washington Center For Mendelian;
    • Leal, Suzanne M.;
    • Khaliq, Abdul;
    • Mir, Asif;
    • Schrauwen, Isabelle
    Publication type:
    Article

  • Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22470-z
    By:
    • Ushiki, Aki;
    • Zhang, Yichi;
    • Xiong, Chenling;
    • Zhao, Jingjing;
    • Georgakopoulos-Soares, Ilias;
    • Kane, Lauren;
    • Jamieson, Kirsty;
    • Bamshad, Michael J.;
    • Nickerson, Deborah A.;
    • University of Washington Center for Mendelian Genomics;
    • Shen, Yin;
    • Lettice, Laura A.;
    • Silveira-Lucas, Elizabeth Lemos;
    • Petit, Florence;
    • Ahituv, Nadav
    Publication type:
    Article

  • Multi-omic studies on missense PLG variants in families with otitis media.

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-70498-w
    By:
    • Bootpetch, Tori C.;
    • Hafrén, Lena;
    • Elling, Christina L.;
    • Baschal, Erin E.;
    • Manichaikul, Ani W.;
    • Pine, Harold S.;
    • Szeremeta, Wasyl;
    • Scholes, Melissa A.;
    • Cass, Stephen P.;
    • Larson, Eric D.;
    • Chan, Kenny H.;
    • Ishaq, Rafaqat;
    • Prager, Jeremy D.;
    • Shaikh, Rehan S.;
    • Gubbels, Samuel P.;
    • Yousaf, Ayesha;
    • University of Washington Center for Mendelian Genomics (UW-CMG);
    • Bamshad, Michael J.;
    • Nickerson, Deborah A.;
    • Leal, Suzanne M.
    Publication type:
    Article

  • 8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-15122-1
    By:
    • Dupont, William D.;
    • Breyer, Joan P.;
    • Plummer, W. Dale;
    • Chang, Sam S.;
    • Cookson, Michael S.;
    • Smith, Joseph A.;
    • University of Washington Center for Mendelian Genomics;
    • Blue, Elizabeth;
    • Bamshad, Michael;
    • Chong, Jessica;
    • Nickerson, Deborah;
    • Blue, Elizabeth E.;
    • Bamshad, Michael J.;
    • Smith, Jeffrey R.
    Publication type:
    Article

  • <italic>ERCC4</italic> variants identified in a cohort of patients with segmental progeroid syndromes.

    Published in:
    Human Mutation, 2018, v. 39, n. 2, p. 255, doi. 10.1002/humu.23367
    By:
    • Mori, Takayasu;
    • Yousefzadeh, Matthew J.;
    • Faridounnia, Maryam;
    • Chong, Jessica X.;
    • Hisama, Fuki M.;
    • Hudgins, Louanne;
    • Mercado, Gabriela;
    • Wade, Erin A.;
    • Barghouthy, Amira S.;
    • Lee, Lin;
    • Martin, George M.;
    • Nickerson, Deborah A.;
    • Bamshad, Michael J.;
    • University of Washington Center for Mendelian Genomics;
    • Niedernhofer, Laura J.;
    • Oshima, Junko
    Publication type:
    Article

  • Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. 152, doi. 10.1002/humu.23362
    By:
    • Zhang, Wenjuan;
    • Taylor, S. Paige;
    • Ennis, Hayley A.;
    • Forlenza, Kimberly N.;
    • Duran, Ivan;
    • Li, Bing;
    • Sanchez, Jorge A. Ortiz;
    • Nevarez, Lisette;
    • Nickerson, Deborah A.;
    • Bamshad, Michael;
    • University of Washington Center for Mendelian Genomics;
    • Lachman, Ralph S.;
    • Krakow, Deborah;
    • Cohn, Daniel H.
    Publication type:
    Article