Clinical Genetics

Cover image for Vol. 86 Issue 6

Early View (Online Version of Record published before inclusion in an issue)

Edited By: Michael R. Hayden

Impact Factor: 3.652

ISI Journal Citation Reports © Ranking: 2013: 49/165 (Genetics & Heredity)

Online ISSN: 1399-0004

  1. Short Reports

    1. Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes

      M. Shinawi, R. Coorg, J.S. Shimony, D.K. Grange and H. Al-Kateb

      Article first published online: 20 MAY 2014 | DOI: 10.1111/cge.12407

  2. Original Articles

    1. Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience

      A. Girardet, A. Ishmukhametova, M. Willems, C. Coubes, S. Hamamah, T. Anahory, M. Des Georges and M. Claustres

      Article first published online: 20 MAY 2014 | DOI: 10.1111/cge.12411

  3. Short reports

    1. The importance of genetic susceptibility in Dupuytren's disease

      K. Becker, S. Tinschert, A. Lienert, P.E. Bleuler, F. Staub, A. Meinel, J. Rößler, W. Wach, R. Hoffmann, F. Kühnel, H.-G. Damert, H.-E. Nick, R. Spicher, W. Lenze, M. Langer, P. Nürnberg and H.C. Hennies

      Article first published online: 15 MAY 2014 | DOI: 10.1111/cge.12410

  4. Short Reports

    1. Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis

      M. Landon, S. Ceulemans, D.S. Saraiya, B. Strike, C. Arnell, L.A. Burbidge, K. Moyes, A. Theisen, P.H. Fernandes, J.Q. Ji, B. Abbott, R.R. Kaldate and B. Roa

      Article first published online: 10 MAY 2014 | DOI: 10.1111/cge.12375

    2. Hypertrophic pyloric stenosis in twins; genetic or environmental factors

      H.Ö. Gezer, P. Oguzkurt, A. Temiz and A. Hicsonmez

      Article first published online: 5 MAY 2014 | DOI: 10.1111/cge.12399

    3. De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy

      J. Nakajima, N. Okamoto, J. Tohyama, M. Kato, H. Arai, O. Funahashi, Y. Tsurusaki, M. Nakashima, H. Kawashima, H. Saitsu, N. Matsumoto and N. Miyake

      Article first published online: 29 APR 2014 | DOI: 10.1111/cge.12394

  5. Social and Behavioural Research in Clinical Genetics

    1. Preferences for results from genomic microarrays: comparing parents and health care providers

      E. Turbitt, J.L. Halliday, D.J. Amor and S.A. Metcalfe

      Article first published online: 29 APR 2014 | DOI: 10.1111/cge.12398

  6. Short Reports

    1. Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases

      F. Fostira, I. Konstantopoulou, D. Mavroudis, D. Tryfonopoulos, D. Yannoukakos and G.E. Voutsinas

      Article first published online: 29 APR 2014 | DOI: 10.1111/cge.12397

    2. Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism

      A.Y. Tan, J. Blumenfeld, A. Michaeel, S. Donahue, W. Bobb, T. Parker, D. Levine and H. Rennert

      Article first published online: 26 APR 2014 | DOI: 10.1111/cge.12383

    3. Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia

      M. Longoni, M.K. Russell, F.A. High, K. Darvishi, F.I. Maalouf, A. Kashani, A.A. Tracy, C.M. Coletti, M. Loscertales, K. Lage, K.G. Ackerman, S.A. Woods, C. Ward-Melver, D. Andrews, C. Lee, B.R. Pober and P.K. Donahoe

      Article first published online: 26 APR 2014 | DOI: 10.1111/cge.12395

  7. Short reports

    1. Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene

      S. Moalem, P. Brouillard, D. Kuypers, E. Legius, E. Harvey, G. Taylor, M. Francois, M. Vikkula and D. Chitayat

      Article first published online: 16 APR 2014 | DOI: 10.1111/cge.12388

  8. Short Reports

    1. The homozygous p.V37I variant of GJB2 is associated with diverse hearing phenotypes

      Y. Chai, D. Chen, L. Sun, L. Li, Y. Chen, X. Pang, L. Zhang, H. Wu and T. Yang

      Article first published online: 12 APR 2014 | DOI: 10.1111/cge.12387

    2. A study of 133 Chinese children with mitochondrial respiratory chain complex I deficiency

      Y.-Y. Ma, T.-F. Wu, Y.-P. Liu, Q. Wang, X.-Y. Li, Y. Ding, J.-Q. Song, Y.-L. Yang and L.-P. Zou

      Article first published online: 12 APR 2014 | DOI: 10.1111/cge.12356

  9. Short reports

    1. You have full text access to this OnlineOpen article
      Genetic predictors of cardiovascular morbidity in Bardet–Biedl syndrome

      E. Forsythe, K. Sparks, B.E. Hoskins, E. Bagkeris, B.M. McGowan, P.V. Carroll, M.S.B. Huda, S. Mujahid, C. Peters, T. Barrett, S. Mohammed and P.L. Beales

      Article first published online: 8 APR 2014 | DOI: 10.1111/cge.12373

  10. Letters to the Editor

    1. A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation

      K.O. Yariz, Y.B. Sakalar, X. Jin, J. Hertz, E.F. Sener, H. Akay, M.N. Özbek, A. Farooq, J. Goldberg and M. Tekin

      Article first published online: 7 APR 2014 | DOI: 10.1111/cge.12374

  11. Short reports

    1. A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease

      M. Kurashige, K. Hanaoka, M. Imamura, T. Udagawa, Y. Kawaguchi, T. Hasegawa, T. Hosoya, T. Yokoo and S. Maeda

      Article first published online: 3 APR 2014 | DOI: 10.1111/cge.12372

  12. Letters to the Editor

    1. Comprehensive genetic testing can save lives in hereditary hearing loss

      D. Tekin, E. Tutar, H. Ozturkmen Akay, S. Blanton, J. Foster II and M. Tekin

      Article first published online: 2 APR 2014 | DOI: 10.1111/cge.12376

  13. Short Reports

    1. SLC26A2 disease spectrum in Sweden – high frequency of recessive multiple epiphyseal dysplasia (rMED)

      O. Mäkitie, S. Geiberger, E. Horemuzova, L. Hagenäs, E. Moström, M. Nordenskjöld, G. Grigelioniene and A. Nordgren

      Article first published online: 1 APR 2014 | DOI: 10.1111/cge.12371

  14. Letters to the Editor