Clinical Genetics

Cover image for Vol. 90 Issue 1

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

Edited By: Reiner A. Veitia

Impact Factor: 3.892

ISI Journal Citation Reports © Ranking: 2015: 42/165 (Genetics & Heredity)

Online ISSN: 1399-0004

  1. Short Reports

    1. Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

      A. Fujita, C. Waga, Y. Hachiya, E. Kurihara, S. Kumada, E. Takeshita, E. Nakagawa, K. Inoue, S. Miyatake, Y. Tsurusaki, M. Nakashima, H. Saitsu, Y.-i. Goto, N. Miyake and N. Matsumoto

      Version of Record online: 23 MAR 2016 | DOI: 10.1111/cge.12767

      Thumbnail image of graphical abstract

      Genetic analysis of the family with intellectual disability harboured different X-linked KDM5C mutations.

    2. A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy

      K. M. Girisha, A. Shukla, D. Trujillano, G. S. Bhavani, M. Hebbar, R. Kadavigere and A. Rolfs

      Version of Record online: 15 MAR 2016 | DOI: 10.1111/cge.12762

  2. Original Articles

    1. High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder

      Q.-J. Zhang, B. Han, L. Lan, L. Zong, W. Shi, H.-Y. Wang, L.-Y. Xie, H. Wang, C. Zhao, C. Zhang, Z.-F. Yin, D.-Y. Wang, C. Petit, J. Guan and Q.-J. Wang

      Version of Record online: 11 MAR 2016 | DOI: 10.1111/cge.12744

    2. Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring

      J. Paděrová, A. Holubová, M. Simandlová, A. Puchmajerová, M. Vlčková, M. Malíková, R. Pourová, S. Vejvalková, M. Havlovicová, M. Šenkeříková, N. Ptáková, J. Drábová, J. Geryk, A. Maver, A. Křepelová and M. Macek Jr.

      Version of Record online: 8 MAR 2016 | DOI: 10.1111/cge.12754

    3. A common variant association study reveals novel susceptibility loci for low HDL-cholesterol levels in ethnic Arabs

      S. M. Wakil, R. Ram, N. P. Muiya, E. Andres, N. Mazhar, S. Hagos, M. Alshahid, B. F. Meyer, G. Morahan and N. Dzimiri

      Version of Record online: 8 MAR 2016 | DOI: 10.1111/cge.12761

  3. Reviews

  4. Original Articles

    1. Structure–function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes

      K. Balamurugan, L. Bjørkhaug, S. Mahajan, S. Kanthimathi, P.R. Njølstad, N. Srinivasan, V. Mohan and V. Radha

      Version of Record online: 4 MAR 2016 | DOI: 10.1111/cge.12757

  5. Short Reports

  6. Original Articles

    1. Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients

      F. Lhota, P. Zemankova, P. Kleiblova, J. Soukupova, M. Vocka, V. Stranecky, M. Janatova, H. Hartmannova, K. Hodanova, S. Kmoch and Z. Kleibl

      Version of Record online: 4 MAR 2016 | DOI: 10.1111/cge.12748

  7. Short Reports

    1. Identification of a founder BRCA1 mutation in the Moroccan population

      F. Quiles, À. Teulé, N. Martinussen Tandstad, L. Feliubadaló, E. Tornero, J. del Valle, M. Menéndez, M. Salinas, V. Wethe Rognlien, A. Velasco, A. Izquierdo, G. Capellá, J. Brunet and C. Lázaro

      Version of Record online: 4 MAR 2016 | DOI: 10.1111/cge.12747

    2. Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias

      M. Stojiljkovic, K. Klaassen, M. Djordjevic, A. Sarajlija, S. Brasil, B. Kecman, S. Grkovic, J. Kostic, P. Rodriguez-Pombo, L.R. Desviat, S. Pavlovic and B. Perez

      Version of Record online: 4 MAR 2016 | DOI: 10.1111/cge.12751

    3. You have full text access to this OnlineOpen article
      Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP

      H.-Y. Jo, M.-H. Park, H.-M. Woo, M.H. Han, B.-Y. Kim, B.-O. Choi, K.W. Chung and S.K. Koo

      Version of Record online: 4 MAR 2016 | DOI: 10.1111/cge.12714

  8. Original Articles

    1. Clinical, biochemical and molecular characterization of prosaposin deficiency

      M. Motta, M. Tatti, F. Furlan, A. Celato, G. Di Fruscio, G. Polo, R. Manara, V. Nigro, M. Tartaglia, A. Burlina and R. Salvioli

      Version of Record online: 19 FEB 2016 | DOI: 10.1111/cge.12753

    2. Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension

      S. Wallace, D.-C. Guo, E. Regalado, L. Mellor-Crummey, M. Bamshad, D.A. Nickerson, R. Dauser, N. Hanchard, R. Marom, E. Martin, V. Berka, I. Sharina, V. Ganesan, D. Saunders, S.A. Morris and D.M. Milewicz

      Version of Record online: 18 FEB 2016 | DOI: 10.1111/cge.12739

  9. Short Reports

    1. Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3

      E. Barca, O. Musumeci, F. Montagnese, S. Marino, F. Granata, D. Nunnari, L. Peverelli, S. DiMauro, C.M. Quinzii and A. Toscano

      Version of Record online: 16 FEB 2016 | DOI: 10.1111/cge.12742

  10. Original Articles

    1. De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum

      S. Jansen, T. Kleefstra, M.H. Willemsen, P. de Vries, R. Pfundt, J.Y. Hehir-Kwa, C. Gilissen, J.A. Veltman, B.B.A. de Vries and L.E.L.M. Vissers

      Version of Record online: 14 FEB 2016 | DOI: 10.1111/cge.12729

  11. Short Reports

    1. WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease

      A.E. Covone, C. Fiorillo, M. Acquaviva, F. Trucco, G. Morana, R. Ravazzolo and C. Minetti

      Version of Record online: 10 FEB 2016 | DOI: 10.1111/cge.12730