Works matching IS 15537390 AND DT 2018 AND VI 14 AND IP 12


Results: 41
    1

    Micropeptide.

    Published in:
    PLoS Genetics, 2018, v. 14, n. 12, p. 1, doi. 10.1371/journal.pgen.1007764
    By:
    • Sousa, Maria E.;
    • Farkas, Michael H.
    Publication type:
    Article
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    BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.

    Published in:
    PLoS Genetics, 2018, v. 14, n. 12, p. 1, doi. 10.1371/journal.pgen.1007752
    By:
    • Cline, Melissa S.;
    • Liao, Rachel G.;
    • Parsons, Michael T.;
    • Paten, Benedict;
    • Alquaddoomi, Faisal;
    • Antoniou, Antonis;
    • Baxter, Samantha;
    • Brody, Larry;
    • Cook-Deegan, Robert;
    • Coffin, Amy;
    • Couch, Fergus J.;
    • Craft, Brian;
    • Currie, Robert;
    • Dlott, Chloe C.;
    • Dolman, Lena;
    • den Dunnen, Johan T.;
    • Dyke, Stephanie O. M.;
    • Domchek, Susan M.;
    • Easton, Douglas;
    • Fischmann, Zachary
    Publication type:
    Article
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    Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.

    Published in:
    2018
    By:
    • Rainger, Joe;
    • van Beusekom, Ellen;
    • Ramsay, Jacqueline K.;
    • McKie, Lisa;
    • Al-Gazali, Lihadh;
    • Pallotta, Rosanna;
    • Saponari, Anita;
    • Branney, Peter;
    • Fisher, Malcolm;
    • Morrison, Harris;
    • Bicknell, Louise;
    • Gautier, Philippe;
    • Perry, Paul;
    • Sokhi, Kishan;
    • Sexton, David;
    • Bardakjian, Tanya M.;
    • Schneider, Adele S.;
    • Elcioglu, Nursel;
    • Ozkinay, Ferda;
    • Koenig, Rainer
    Publication type:
    Correction Notice
    10
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    Walking along chromosomes with super-resolution imaging, contact maps, and integrative modeling.

    Published in:
    PLoS Genetics, 2018, v. 14, n. 12, p. 1, doi. 10.1371/journal.pgen.1007872
    By:
    • Nir, Guy;
    • Farabella, Irene;
    • Pérez Estrada, Cynthia;
    • Ebeling, Carl G.;
    • Beliveau, Brian J.;
    • Sasaki, Hiroshi M.;
    • Lee, Soun H.;
    • Nguyen, Son C.;
    • McCole, Ruth B.;
    • Chattoraj, Shyamtanu;
    • Erceg, Jelena;
    • AlHaj Abed, Jumana;
    • Martins, Nuno M. C.;
    • Nguyen, Huy Q.;
    • Hannan, Mohammed A.;
    • Russell, Sheikh;
    • Durand, Neva C.;
    • Rao, Suhas S. P.;
    • Kishi, Jocelyn Y.;
    • Soler-Vila, Paula
    Publication type:
    Article
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    Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.

    Published in:
    PLoS Genetics, 2018, v. 14, n. 12, p. 1, doi. 10.1371/journal.pgen.1007813
    By:
    • Day, Felix;
    • Karaderi, Tugce;
    • Jones, Michelle R.;
    • Meun, Cindy;
    • He, Chunyan;
    • Drong, Alex;
    • Kraft, Peter;
    • Lin, Nan;
    • Huang, Hongyan;
    • Broer, Linda;
    • Magi, Reedik;
    • Saxena, Richa;
    • Laisk, Triin;
    • Urbanek, Margrit;
    • Hayes, M. Geoffrey;
    • Thorleifsson, Gudmar;
    • Fernandez-Tajes, Juan;
    • Mahajan, Anubha;
    • Mullin, Benjamin H.;
    • Stuckey, Bronwyn G. A.
    Publication type:
    Article
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    Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.

    Published in:
    PLoS Genetics, 2018, v. 14, n. 12, p. 1, doi. 10.1371/journal.pgen.1007845
    By:
    • Jühlen, Ramona;
    • Hezwani, Mohammed;
    • Martinelli, Valérie;
    • Martins, Nuno;
    • Pirenne, Laurence;
    • Fahrenkrog, Birthe;
    • Bonnin, Edith;
    • Janssens, Sandra;
    • Roets, Ellen;
    • Lammens, Martin;
    • Cabochette, Pauline;
    • Vanhollebeke, Benoit;
    • Filosa, Alessandro;
    • Komatsuzaki, Shoko;
    • Hoffmann, Katrin;
    • Dickmanns, Achim;
    • Ficner, Ralf;
    • Vermeersch, Marjorie;
    • Supply, Lynn;
    • Van Dorpe, Jo
    Publication type:
    Article
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    De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

    Published in:
    PLoS Genetics, 2018, v. 14, n. 12, p. 1, doi. 10.1371/journal.pgen.1007822
    By:
    • Guo, Yicheng;
    • Qi, Hongjian;
    • Zhou, Xueya;
    • Zhu, Na;
    • Zhao, Haoquan;
    • Kitaygorodsky, Alexander;
    • Shen, Yufeng;
    • Warner, Brad W.;
    • Mychaliska, George B.;
    • Potoka, Douglas;
    • Wagner, Amy J.;
    • ElFiky, Mahmoud;
    • Wilson, Jay M.;
    • High, Frances A.;
    • Longoni, Mauro;
    • Donahoe, Patricia K.;
    • Nickerson, Debbie;
    • Bamshad, Michael;
    • Yu, Lan;
    • Wynn, Julia
    Publication type:
    Article
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    Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds.

    Published in:
    PLoS Genetics, 2018, v. 14, n. 12, p. 1, doi. 10.1371/journal.pgen.1007850
    By:
    • Mansour, Tamer A.;
    • Lucot, Katherine;
    • Brown, C. Titus;
    • Bannasch, Danika L.;
    • Konopelski, Sara E.;
    • Choi, Shannon;
    • Ho, Hsin-Yi Henry;
    • Dickinson, Peter J.;
    • Sturges, Beverly K.;
    • Vernau, Karen L.;
    • Thomasy, Sara M.;
    • Verstraete, Frank J. M.;
    • Johnson, Eric G.;
    • York, Daniel;
    • Rebhun, Robert B.;
    • Stern, Joshua A.;
    • Döring, Sophie
    Publication type:
    Article
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    Ancestral origin of ApoE ε4 Alzheimer disease risk in Puerto Rican and African American populations.

    Published in:
    PLoS Genetics, 2018, v. 14, n. 12, p. 1, doi. 10.1371/journal.pgen.1007791
    By:
    • Rajabli, Farid;
    • Feliciano, Briseida E.;
    • Celis, Katrina;
    • Hamilton-Nelson, Kara L.;
    • Whitehead, Patrice L.;
    • Adams, Larry D.;
    • Bussies, Parker L.;
    • Manrique, Clara P.;
    • Rodriguez, Alejandra;
    • Rodriguez, Vanessa;
    • Starks, Takiyah;
    • Byfield, Grace E.;
    • Sierra Lopez, Carolina B.;
    • McCauley, Jacob L.;
    • Acosta, Heriberto;
    • Chinea, Angel;
    • Kunkle, Brian W.;
    • Reitz, Christiane;
    • Farrer, Lindsay A.;
    • Schellenberg, Gerard D.
    Publication type:
    Article
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