You have free access to this content

Clinical Genetics

Cover image for Clinical Genetics

Special Issue: Variant

November 2013

Volume 84, Issue 5

Pages 397–506

  1. REVIEWS

    1. Top of page
    2. REVIEWS
    3. ORIGINAL ARTICLES
    4. SHORT REPORTS
    5. LETTER TO THE EDITOR
    1. You have full text access to this OnlineOpen article
      Funding considerations for the disclosure of genetic incidental findings in biobank research (pages 397–406)

      L Black, D Avard, MH Zawati, BM Knoppers, J Hébert, G Sauvageau and on behalf of the Leucegene Project

      Version of Record online: 10 JUN 2013 | DOI: 10.1111/cge.12190

    2. You have free access to this content
    3. You have free access to this content
      Pathogenic or not? Assessing the clinical relevance of copy number variants (pages 415–421)

      JY Hehir-Kwa, R Pfundt, JA Veltman and N de Leeuw

      Version of Record online: 21 AUG 2013 | DOI: 10.1111/cge.12242

    4. You have free access to this content
      Pathogenic variants in non-protein-coding sequences (pages 422–428)

      P Makrythanasis and SE Antonarakis

      Version of Record online: 23 SEP 2013 | DOI: 10.1111/cge.12272

  2. ORIGINAL ARTICLES

    1. Top of page
    2. REVIEWS
    3. ORIGINAL ARTICLES
    4. SHORT REPORTS
    5. LETTER TO THE EDITOR
    1. You have free access to this content
      Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis (pages 429–440)

      A Mostowska, B Biedziak, M Zadurska, I Dunin-Wilczynska, M Lianeri and PP Jagodzinski

      Version of Record online: 7 DEC 2012 | DOI: 10.1111/cge.12061

    2. You have free access to this content
      Detection of novel genetic variation in autosomal dominant retinitis pigmentosa (pages 441–452)

      E Borràs, M de Sousa Dias, I Hernan, B Pascual, B Mañé, MJ Gamundi, B Delás and M Carballo

      Version of Record online: 15 APR 2013 | DOI: 10.1111/cge.12151

    3. You have free access to this content
      A systematic approach to assessing the clinical significance of genetic variants (pages 453–463)

      H Duzkale, J Shen, H McLaughlin, A Alfares, MA Kelly, TJ Pugh, BH Funke, HL Rehm and MS Lebo

      Version of Record online: 17 OCT 2013 | DOI: 10.1111/cge.12257

    4. You have free access to this content
      Variants of uncertain significance in BRCA testing: evaluation of surgical decisions, risk perception, and cancer distress (pages 464–472)

      JO Culver, CD Brinkerhoff, J Clague, K Yang, KE Singh, SR Sand and JN Weitzel

      Version of Record online: 20 FEB 2013 | DOI: 10.1111/cge.12097

    5. You have free access to this content
      Whole-genome copy number variation analysis in anophthalmia and microphthalmia (pages 473–481)

      KF Schilter, LM Reis, A Schneider, TM Bardakjian, O Abdul-Rahman, BA Kozel, HH Zimmerman, U Broeckel and EV Semina

      Version of Record online: 17 JUN 2013 | DOI: 10.1111/cge.12202

    6. You have free access to this content
      The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia (pages 482–488)

      LC Kaupert, SHV Lemos-Marini, MP De Mello, RP Moreira, VN Brito, AAL Jorge, CA Longui, G Guerra Jr, BB Mendonca and TA Bachega

      Version of Record online: 8 OCT 2012 | DOI: 10.1111/cge.12016

    7. You have free access to this content
      High prevalence of genetic variants previously associated with Brugada syndrome in new exome data (pages 489–495)

      B Risgaard, R Jabbari, L Refsgaard, AG Holst, S Haunsø, A Sadjadieh, BG Winkel, MS Olesen and J Tfelt-Hansen

      Version of Record online: 11 MAR 2013 | DOI: 10.1111/cge.12126

  3. SHORT REPORTS

    1. Top of page
    2. REVIEWS
    3. ORIGINAL ARTICLES
    4. SHORT REPORTS
    5. LETTER TO THE EDITOR
    1. You have free access to this content
    2. You have free access to this content
      Association of HLA locus variant in Parkinson's disease (pages 501–504)

      Y Zhao, AA Gopalai, A Ahmad-Annuar, EWL Teng, KM Prakash, LCS Tan, W-L Au, H-H Li, S-Y Lim, SK Lim, YB Chong, LP Tan, NM Ibrahim and E-K Tan

      Version of Record online: 29 OCT 2012 | DOI: 10.1111/cge.12024

  4. LETTER TO THE EDITOR

    1. Top of page
    2. REVIEWS
    3. ORIGINAL ARTICLES
    4. SHORT REPORTS
    5. LETTER TO THE EDITOR
    1. You have free access to this content
      cDNA analysis of the BRCA1 unclassified variant c.5194-12G>A (pages 505–506)

      MW Wong-Brown, ML McPhillips, M Hipwell, G Pecenpetelovska, S Dooley, C Meldrum and RJ Scott

      Version of Record online: 20 DEC 2012 | DOI: 10.1111/cge.12052

SEARCH

SEARCH BY CITATION