Clinical Genetics

Cover image for Vol. 92 Issue 2

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

Edited By: Reiner A. Veitia

Impact Factor: 3.326

ISI Journal Citation Reports © Ranking: 2016: 62/166 (Genetics & Heredity)

Online ISSN: 1399-0004

VIEW

  1. 1 - 20
  2. 21 - 40
  3. 41 - 53
  1. SHORT REPORTS

    1. Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy

      W. Ramadan, N. Patel, S. Anazi, A.Y. Kentab, F.A. Bashiri, M.H. Hamad, L. Jad, M.A. Salih, H. Alsaif, M. Hashem, E. Faqeih, H.E. Shamseddin and F.S. Alkuraya

      Version of Record online: 19 APR 2017 | DOI: 10.1111/cge.12999

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  2. ORIGINAL ARTICLES

    1. Defining personal utility in genomics: A Delphi study

      J.N. Kohler, E. Turbitt, K.L. Lewis, B.S. Wilfond, L. Jamal, H.L. Peay, L.G. Biesecker and B.B. Biesecker

      Version of Record online: 19 APR 2017 | DOI: 10.1111/cge.12998

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    2. Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families

      L.S. Santana, L.A. Caetano, A.D. Costa-Riquetto, E.P.S. Quedas, M. Nery, P. Collett-Solberg, M.C.S. Boguszewski, M.F. Vendramini, L.G. Crisostomo, F.O. Floh, Z.I. Zarabia, S.K. Kohara, L. Guastapaglia, C.G.B. Passone, L.E. Sewaybricker, A.A.L. Jorge and M.G. Teles

      Version of Record online: 12 APR 2017 | DOI: 10.1111/cge.12988

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  3. LETTERS TO THE EDITOR

    1. Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history

      I. Luyckx, D. Proost, J.M.H. Hendriks, J. Saenen, E.M. Van Craenenbroeck, T. Vermeulen, N. Peeters, W. Wuyts, I. Rodrigus, A. Verstraeten, L. Van Laer and B.L. Loeys

      Version of Record online: 12 APR 2017 | DOI: 10.1111/cge.13000

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  4. SHORT REPORTS

    1. The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement

      J. Oliveira, M. Martins, R. Pinto Leite, M. Sousa and R. Santos

      Version of Record online: 31 MAR 2017 | DOI: 10.1111/cge.12997

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      Identification of the second case of a rare neuromuscular disease confirms ASCC1 involvement. Main clinical features include: hypotonia, lack of spontaneous movements, arthrogryposis, bilateral congenital femoral fractures and thin, gracile ribs. A homozygous frame shift variant was identified in ASCC1 using whole-exome sequencing.

    2. SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly

      P. Fontana, M. Grasso, F. Acquaviva, E. Gennaro, M.L. Galli, M. Falco, F. Scarano, G. Scarano and F. Lonardo

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.13005

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    3. Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency

      Y. Shao, M. Jiang, Y. Lin, H. Mei, W. Zhang, Y. Cai, X. Su, H. Hu, X. Li and L. Liu

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.13004

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    4. You have full text access to this OnlineOpen article
      Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability

      K.L. Helbig, C. Mroske, D. Moorthy, S.A. Sajan and M. Velinov

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12995

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  5. ORIGINAL ARTICLES

    1. Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies

      B. Ozyilmaz, O. Kirbiyik, A. Koc, T.R. Ozdemir, O.O. Kaya, M.S. Guvenc, K.M. Erdoğan and Y.B. Kutbay

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12978

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  6. REVIEWS

    1. Parents’ attitudes toward genetic testing of children for health conditions: A systematic review

      Q. Lim, B.C. McGill, V.F. Quinn, K.M. Tucker, D. Mizrahi, A.F. Patenaude, M. Warby, R.J. Cohn and C.E. Wakefield

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12989

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  7. Reviews

    1. PAX9 gene mutations and tooth agenesis: A review

      O. Bonczek, V.J. Balcar and O. Šerý

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12986

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  8. ORIGINAL ARTICLES

    1. DEPDC5 mutations in familial and sporadic focal epilepsy

      M.-H. Tsai, C.-K. Chan, Y.-C. Chang, Y.-T. Yu, S.-T. Chuang, W.-L. Fan, S.-C. Li, T.-Y. Fu, W.-N. Chang, C.-W. Liou, Y.-C. Chuang, C.-C. Ng, D.-Y. Hwang and K.-S. Lim

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12992

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  9. SHORT REPORTS

  10. LETTERS TO THE EDITOR

    1. Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum

      Shahida Moosa, Bart Loeys, Janine Altmüller, Geert Mortier, Peter Nürnberg, Yun Li, Bernd Wollnik and Ida Vogel

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12990

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    2. Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants

      F. Santos-Simarro, E. Vallespin, A. del Pozo, K. Ibañez, J.C. Silla, L. Fernandez, J. Nevado, H. González-Pecellín, V.E.F. Montaño, R. Martin, L.I. Alba Valdivia, S. García-Miñaúr, P. Lapunzina and M. Palomares-Bralo

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12965

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  11. Original Articles

    1. The genotype–phenotype landscape of familial amyotrophic lateral sclerosis in Australia

      E.P. McCann, K.L. Williams, J.A. Fifita, I.S. Tarr, J. O'Connor, D.B. Rowe, G.A. Nicholson and I.P. Blair

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12973

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  12. SHORT REPORTS

    1. The Danish HD Registry—a nationwide family registry of HD families in Denmark

      M. Gilling, E. Budtz-Jørgensen, S.E. Boonen, D. Lildballe, A. Bojesen, J.M. Hertz and S.A. Sørensen

      Version of Record online: 28 MAR 2017 | DOI: 10.1111/cge.12984

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  13. ORIGINAL ARTICLES

    1. You have full text access to this OnlineOpen article
      Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome

      Maren F. Hansen, Jostein Johansen, Anna E. Sylvander, Inga Bjørnevoll, Bente A. Talseth-Palmer, Liss A. S. Lavik, Alexandre Xavier, Lars F. Engebretsen, Rodney J. Scott, Finn Drabløs and Wenche Sjursen

      Version of Record online: 22 MAR 2017 | DOI: 10.1111/cge.12994

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  14. Reviews

  15. ORIGINAL ARTICLES

    1. Association of genetic variation with blood pressure traits among East Africans

      J. Kayima, J. Liang, Y. Natanzon, J. Nankabirwa, I. Ssinabulya, J. Nakibuuka, A. Katamba, H. Mayanja-Kizza, A. Miron, C. Li and X. Zhu

      Version of Record online: 19 MAR 2017 | DOI: 10.1111/cge.12974

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  2. 21 - 40
  3. 41 - 53

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