Clinical Genetics

Cover image for Vol. 88 Issue 6

Edited By: Michael R. Hayden

Impact Factor: 3.931

ISI Journal Citation Reports © Ranking: 2014: 42/167 (Genetics & Heredity)

Online ISSN: 1399-0004

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Recently Published Articles

  1. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

    M. Avila, D.A. Dyment, J.V. Sagen, J. St-Onge, U. Moog, B.H.Y. Chung, S. Mo, S. Mansour, A. Albanese, S. Garcia, D.O. Martin, A.A. Lopez, T. Claudi, R. König, S.M. White, S.L. Sawyer, J.A. Bernstein, L. Slattery, R.K. Jobling, G. Yoon, C.J. Curry, M.L. Merrer, B.L. Luyer, D. Héron, M. Mathieu-Dramard, P. Bitoun, S. Odent, J. Amiel, P. Kuentz, J. Thevenon, M. Laville, Y. Reznik, C. Fagour, M.-L. Nunes, D. Delesalle, S. Manouvrier, O. Lascols, F. Huet, C. Binquet, L. Faivre, J.-B. Rivière, C. Vigouroux, P.R. Njølstad, A.M. Innes and C. Thauvin-Robinet

    Article first published online: 27 NOV 2015 | DOI: 10.1111/cge.12688

  2. Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome (WSS)

    Raja Hussain Ali, Khadim Shah, Abdul Nasir, Wouter Steyaert, Paul J. Coucke and Wasim Ahmad

    Accepted manuscript online: 26 NOV 2015 11:42PM EST | DOI: 10.1111/cge.12700

  3. Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome

    Daniel E.J. Waschk, Ann-Christin Tewes, Thomas Römer, Jürgen Hucke, Karina Kapczuk, Cordula Schippert, Peter Hillemanns, Peter Wieacker and Susanne Ledig

    Accepted manuscript online: 26 NOV 2015 11:41PM EST | DOI: 10.1111/cge.12701

  4. Systematic review of chronic pain in persons with Marfan syndrome

    Gry Velvin, Trine Bathen, Svend Rand-Hendriksen and Amy Østertun Geirdal

    Accepted manuscript online: 26 NOV 2015 01:28AM EST | DOI: 10.1111/cge.12699

  5. SATB2-associated syndrome presenting with Rett-like phenotypes

    Jin Sook Lee, Yongjin Yoo, Byung Chan Lim, Ki Joong Kim, Murim Choi and Jong-Hee Chae

    Accepted manuscript online: 24 NOV 2015 02:32AM EST | DOI: 10.1111/cge.12698