Works by Fahiminiya, Somayyeh

Results: 25
    1

    Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused by KIF11 Mutations.

    Published in:
    JAMA Ophthalmology, 2014, v. 132, n. 12, p. 1393, doi. 10.1001/jamaophthalmol.2014.2814
    By:
    • Robitaille, Johane M.;
    • Gillett, Roxanne M.;
    • LeBlanc, Marissa A.;
    • Gaston, Daniel;
    • Nightingale, Mathew;
    • Mackley, Michael P.;
    • Parkash, Sandhya;
    • Hathaway, Julie;
    • Thomas, Aidan;
    • Ells, Anna;
    • Traboulsi, Elias I.;
    • Héon, Elise;
    • Roy, Mélanie;
    • Shalev, Stavit;
    • Fernandez, Conrad V.;
    • MacGillivray, Christine;
    • Wallace, Karin;
    • Fahiminiya, Somayyeh;
    • Majewski, Jacek;
    • McMaster, Christopher R.
    Publication type:
    Article
    2

    Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-81106-w
    By:
    • Elkholi, Islam E.;
    • Di Iorio, Massimo;
    • Fahiminiya, Somayyeh;
    • Arcand, Suzanna L.;
    • Han, HyeRim;
    • Nogué, Clara;
    • Behl, Supriya;
    • Hamel, Nancy;
    • Giroux, Sylvie;
    • de Ladurantaye, Manon;
    • Aleynikova, Olga;
    • Gotlieb, Walter H.;
    • Côté, Jean-François;
    • Rousseau, François;
    • Tonin, Patricia N.;
    • Provencher, Diane;
    • MesMasson, Anne-Marie;
    • Akbari, Mohammad R.;
    • Rivera, Barbara;
    • Foulkes, William D.
    Publication type:
    Article
    3

    A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66978-8
    By:
    • Evans, Daniel R.;
    • Green, Jane S.;
    • Fahiminiya, Somayyeh;
    • Majewski, Jacek;
    • Fernandez, Bridget A.;
    • Deardorff, Matthew A.;
    • Johnson, Gordon J.;
    • Whelan, James H.;
    • Hubmacher, Dirk;
    • Apte, Suneel S.;
    • Care4Rare Canada Consortium;
    • Boycott, Kym;
    • Bulman, Dennis;
    • Dyment, David;
    • McKenzie, Alex;
    • Brudno, Michael;
    • Woods, Michael O.
    Publication type:
    Article
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    A novel rearrangement of occludin causes brain calcification and renal dysfunction.

    Published in:
    Human Genetics, 2013, v. 132, n. 11, p. 1223, doi. 10.1007/s00439-013-1327-y
    By:
    • LeBlanc, Marissa;
    • Penney, Lynette;
    • Gaston, Daniel;
    • Shi, Yuhao;
    • Aberg, Erika;
    • Nightingale, Mathew;
    • Jiang, Haiyan;
    • Gillett, Roxanne;
    • Fahiminiya, Somayyeh;
    • Macgillivray, Christine;
    • Wood, Ellen;
    • Acott, Philip;
    • Khan, M.;
    • Samuels, Mark;
    • Majewski, Jacek;
    • Orr, Andrew;
    • McMaster, Christopher;
    • Bedard, Karen
    Publication type:
    Article
    7

    Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

    Published in:
    Human Genetics, 2015, v. 134, n. 9, p. 981, doi. 10.1007/s00439-015-1577-y
    By:
    • Tetreault, Martine;
    • Fahiminiya, Somayyeh;
    • Antonicka, Hana;
    • Mitchell, Grant;
    • Geraghty, Michael;
    • Lines, Matthew;
    • Boycott, Kym;
    • Shoubridge, Eric;
    • Mitchell, John;
    • Michaud, Jacques;
    • Majewski, Jacek
    Publication type:
    Article
    8
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    Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.

    Published in:
    Human Mutation, 2016, v. 37, n. 9, p. 976, doi. 10.1002/humu.23037
    By:
    • Pupavac, Mihaela;
    • Watkins, David;
    • Petrella, Francis;
    • Fahiminiya, Somayyeh;
    • Janer, Alexandre;
    • Cheung, Warren;
    • Gingras, Anne‐Claude;
    • Pastinen, Tomi;
    • Muenzer, Joseph;
    • Majewski, Jacek;
    • Shoubridge, Eric A.;
    • Rosenblatt, David S.
    Publication type:
    Article
    10

    Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors.

    Published in:
    Acta Neuropathologica, 2016, v. 131, n. 6, p. 847, doi. 10.1007/s00401-016-1549-x
    By:
    • Rivera, Barbara;
    • Gayden, Tenzin;
    • Carrot-Zhang, Jian;
    • Nadaf, Javad;
    • Boshari, Talia;
    • Faury, Damien;
    • Zeinieh, Michele;
    • Blanc, Romeo;
    • Burk, David;
    • Fahiminiya, Somayyeh;
    • Bareke, Eric;
    • Schüller, Ulrich;
    • Monoranu, Camelia;
    • Sträter, Ronald;
    • Kerl, Kornelius;
    • Niederstadt, Thomas;
    • Kurlemann, Gerhard;
    • Ellezam, Benjamin;
    • Michalak, Zuzanna;
    • Thom, Maria
    Publication type:
    Article
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    Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 438, doi. 10.1038/ng.2931
    By:
    • Witkowski, Leora;
    • Carrot-Zhang, Jian;
    • Albrecht, Steffen;
    • Fahiminiya, Somayyeh;
    • Hamel, Nancy;
    • Tomiak, Eva;
    • Grynspan, David;
    • Saloustros, Emmanouil;
    • Nadaf, Javad;
    • Rivera, Barbara;
    • Gilpin, Catherine;
    • Castellsagué, Ester;
    • Silva-Smith, Rachel;
    • Plourde, François;
    • Wu, Mona;
    • Saskin, Avi;
    • Arseneault, Madeleine;
    • Karabakhtsian, Rouzan G;
    • Reilly, Elizabeth A;
    • Ueland, Frederick R
    Publication type:
    Article
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    DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

    Published in:
    2020
    By:
    • Rivera, Barbara;
    • Nadaf, Javad;
    • Fahiminiya, Somayyeh;
    • Apellaniz-Ruiz, Maria;
    • Saskin, Avi;
    • Chong, Anne-Sophie;
    • Sharma, Sahil;
    • Wagener, Rabea;
    • Revil, Timothée;
    • Condello, Vincenzo;
    • Harra, Zineb;
    • Hamel, Nancy;
    • Sabbaghian, Nelly;
    • Muchantef, Karl;
    • Thomas, Christian;
    • de Kock, Leanne;
    • Hébert-Blouin, Marie-Noëlle;
    • Bassenden, Angelia V.;
    • Rabenstein, Hannah;
    • Mete, Ozgur
    Publication type:
    journal article