Clinical Genetics

Cover image for Vol. 90 Issue 4

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. Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures

      A.A. Mahmud, N.A. Nahid, C. Nassif, M.S.B. Sayeed, M.U. Ahmed, M. Parveen, M.I. Khalil, M.M. Islam, Z. Nahar, F. Rypens, F.F. Hamdan, G.A. Rouleau, A. Hasnat and J.L. Michaud

      Version of Record online: 16 SEP 2016 | DOI: 10.1111/cge.12850

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      Identification of a homozygous truncating PIEZO2 mutation in three affected siblings from a consanguineous family showing short stature, scoliosis, gross motor impairment, a progressive form of contractures involving the distal joints and deficits in proprioception and touch sensation.

    2. KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy

      M. Rydzanicz, M. Jagła, J. Kosinska, T. Tomasik, A. Sobczak, A. Pollak, I. Herman-Sucharska, A. Walczak, P. Kwinta and R. Płoski

      Version of Record online: 16 SEP 2016 | DOI: 10.1111/cge.12831

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  2. Letters to the Editor

    1. You have full text access to this OnlineOpen article
  3. Short Reports

    1. Phenotypic variability and diffuse arterial lesions in a family with Loeys–Dietz syndrome type 4

      J.-M. Mazzella, M. Frank, P. Collignon, M. Langeois, A. Legrand, X. Jeunemaitre and J. Albuisson

      Version of Record online: 13 SEP 2016 | DOI: 10.1111/cge.12838

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    2. Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology

      F. Piceci, S. Morlino, M. Castori, E. Buffone, A. De Luca, P. Grammatico and V. Guida

      Version of Record online: 13 SEP 2016 | DOI: 10.1111/cge.12845

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      Schematic representation of the HOXA2 gene and corresponding protein product showing the position of the c.670G > T p.(Glu224*) mutation and recognized protein domains.

  4. Reviews

    1. Congenital heart diseases and their association with the variant distribution features on susceptibility genes

      W. Su, P. Zhu, R. Wang, Q. Wu, M. Wang, X. Zhang, L. Mei, J. Tang, M. Kumar, X. Wang, L. Su and N. Dong

      Version of Record online: 5 SEP 2016 | DOI: 10.1111/cge.12835

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  5. Short Reports

    1. Clinical application of whole-genome low-coverage next-generation sequencing to detect and characterize balanced chromosomal translocations

      D. Liang, Y. Wang, X. Ji, H. Hu, J. Zhang, L. Meng, Y. Lin, D. Ma, T. Jiang, H. Jiang, Asan, L. Song, J. Guo, P. Hu and Z. Xu

      Version of Record online: 5 SEP 2016 | DOI: 10.1111/cge.12844

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    2. Haplotype analysis reveals that the recurrent BRCA1 deletion of exons 23 and 24 is a Greek founder mutation

      P. Apostolou, M. Pertesi, V. Aleporou-Marinou, C. Dimitrakakis, C. Papadimitriou, E. Razis, C. Christodoulou, G. Fountzilas, D. Yannoukakos, I. Konstantopoulou and F. Fostira

      Version of Record online: 22 AUG 2016 | DOI: 10.1111/cge.12824

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  6. Reviews

    1. A practical approach to ichthyoses with systemic manifestations

      S. Saral, A. Vural, A. Wollenberg and T. Ruzicka

      Version of Record online: 22 AUG 2016 | DOI: 10.1111/cge.12828

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  7. Short Reports

    1. Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants

      L. Shi, B.D. Webb, A.H. Birch, L. Elkhoury, J. McCarthy, X. Cai, K. Oishi, L. Mehta, G.A. Diaz, L. Edelmann and R. Kornreich

      Version of Record online: 22 AUG 2016 | DOI: 10.1111/cge.12834

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    2. Genetic risk factors for venous thrombosis in women using combined oral contraceptives: update of the PILGRIM study

      P. Suchon, F. Al Frouh, M. Ibrahim, G. Sarlon, G. Venton, M.-C. Alessi, D.-A. Trégouët and P.-E. Morange

      Version of Record online: 22 AUG 2016 | DOI: 10.1111/cge.12833

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      Results shown in graphical abstract are presented in Table 2.

  8. Letters to the Editor

    1. Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy–Walker malformation – a yet uncharacterized syndrome

      N. Gupta, S. Shastri, P.K. Singh, M. Jana, A. Mridha, G. Verma and M. Kabra

      Version of Record online: 10 AUG 2016 | DOI: 10.1111/cge.12830

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      An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights.

      An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights.

  9. Reviews

    1. Recent Advances in Imprinting Disorders

      L. Soellner, M. Begemann, D.J.G. Mackay, K. Grønskov, Z. Tümer, E.R. Maher, I.K. Temple, D. Monk, A. Riccio, A. Linglart, I. Netchine and T. Eggermann

      Version of Record online: 4 AUG 2016 | DOI: 10.1111/cge.12827

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    2. CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS)

      A. Martinez-Lopez, G. Blasco-Morente, I. Perez-Lopez, J.D. Herrera-Garcia, M. Luque-Valenzuela, D. Sanchez-Cano, J.C. Lopez-Gutierrez, R. Ruiz-Villaverde and J. Tercedor-Sanchez

      Version of Record online: 3 AUG 2016 | DOI: 10.1111/cge.12832

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      PIK3CA pathway and syndromes. Left asymmetric overgrowth and sandal gap.

  10. Letters to the Editor

    1. Mutation in JPH2 cause dilated cardiomyopathy

      M. Sabater-Molina, M. Navarro, E. García-Molina Sáez, I. Garrido, D. Pascual-Figal, J. González Carrillo and J.R. Gimeno Blanes

      Version of Record online: 29 JUL 2016 | DOI: 10.1111/cge.12825

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  11. Original Articles

    1. Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders

      H.J. Park, H. Jang, J.H. Kim, J.H. Lee, H.Y. Shin, S.M. Kim, K.D. Park, S.-V. Yim, J.H. Lee and Y.-C. Choi

      Version of Record online: 29 JUL 2016 | DOI: 10.1111/cge.12826

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    2. EMR documentation of physician–patient communication following genomic counseling for actionable complex disease and pharmacogenomic results

      K. Sweet, A.C. Sturm, T. Schmidlen, S. Hovick, J. Peng, K. Manickam, A. Salikhova, J. McElroy, L. Scheinfeldt, A.E. Toland, J.S. Roberts and M. Christman

      Version of Record online: 28 JUL 2016 | DOI: 10.1111/cge.12820

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    3. Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants

      C.P. Savastano, L.A. Brito, Á.C. Faria, N. Setó-Salvia, E. Peskett, C.M. Musso, L. Alvizi, S.A.M. Ezquina, C. James, GOSgene, P. Beales, M. Lees, G.E. Moore, P. Stanier and M.R. Passos-Bueno

      Version of Record online: 26 JUL 2016 | DOI: 10.1111/cge.12823

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  12. Short Reports

    1. Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum

      V. Hucthagowder, A. Shenoy, M. Corliss, K.A. Vigh-Conrad, C. Storer, D.K. Grange and C.E. Cottrell

      Version of Record online: 26 JUL 2016 | DOI: 10.1111/cge.12819

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