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CLINICAL

  • Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly
    Reuben J Pengelly, Stephanie Greville-Heygate, Susanne Schmidt, Eleanor G Seaby, M Reza Jabalameli, Sarju G Mehta, Michael J Parker, David Goudie, Christine Fagotto-Kaufmann, Catherine Mercer, the DDD Study, Anne Debant, Sarah Ennis, Diana Baralle
    Journal of Medical Genetics Nov 2016, 53 (11) 735-742; DOI: 10.1136/jmedgenet-2016-103942
  • SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort
    Camille Tlemsani, Armelle Luscan, Nicolas Leulliot, Eric Bieth, Alexandra Afenjar, Geneviève Baujat, Martine Doco-Fenzy, Alice Goldenberg, Didier Lacombe, Laetitia Lambert, Sylvie Odent, Jérôme Pasche, Sabine Sigaudy, Alexandre Buffet, Céline Violle-Poirsier, Audrey Briand-Suleau, Ingrid Laurendeau, Magali Chin, Pascale Saugier-Veber, Dominique Vidaud, Valérie Cormier-Daire, Michel Vidaud, Eric Pasmant, Lydie Burglen
    Journal of Medical Genetics Nov 2016, 53 (11) 743-751; DOI: 10.1136/jmedgenet-2015-103638
  • Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS
    Estelle Lopez, Marie Berenguer, Angèle Tingaud-Sequeira, Sandrine Marlin, Annick Toutain, Françoise Denoyelle, Arnaud Picard, Sabine Charron, Guilaine Mathieu, Harmony de Belvalet, Benoit Arveiler, Patrick J Babin, Didier Lacombe, Caroline Rooryck
    Journal of Medical Genetics Nov 2016, 53 (11) 752-760; DOI: 10.1136/jmedgenet-2016-103774
  • Molecular findings from 537 individuals with inherited retinal disease
    Jamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, James O'Sullivan, Simon G Williams, Janine A Lamb, Binay Panda, Panagiotis I Sergouniotis, Rachel L Gillespie, Stephen P Daiger, Georgina Hall, Theodora Gale, I Christopher Lloyd, Paul N Bishop, Simon C Ramsden, Graeme C M Black
    Journal of Medical Genetics Nov 2016, 53 (11) 761-767; DOI: 10.1136/jmedgenet-2016-103837
  • The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
    Yi Shiau Ng, Charlotte L Alston, Daria Diodato, Andrew A Morris, Nicole Ulrick, Stanislav Kmoch, Josef Houštěk, Diego Martinelli, Alireza Haghighi, Mehnaz Atiq, Montserrat Anton Gamero, Elena Garcia-Martinez, Hana Kratochvílová, Saikat Santra, Ruth M Brown, Garry K Brown, Nicola Ragge, Ahmad Monavari, Karen Pysden, Kirstine Ravn, Jillian P Casey, Arif Khan, Anupam Chakrapani, Grace Vassallo, Cas Simons, Karl McKeever, Siobhan O'Sullivan, Anne-Marie Childs, Elsebet Østergaard, Adeline Vanderver, Amy Goldstein, Julie Vogt, Robert W Taylor, Robert McFarland
    Journal of Medical Genetics Nov 2016, 53 (11) 768-775; DOI: 10.1136/jmedgenet-2016-103910
  • Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation
    Clara Soria-Valles, Dido Carrero, Elisabeth Gabau, Gloria Velasco, Víctor Quesada, Clea Bárcena, Marleen Moens, Karen Fieggen, Silvia Möhrcken, Martina Owens, Diana A Puente, Óscar Asensio, Bart Loeys, Ana Pérez, Valerie Benoit, Wim Wuyts, Nicolas Lévy, Raoul C Hennekam, Annachiara De Sandre-Giovannoli, Carlos López-Otín
    Journal of Medical Genetics Nov 2016, 53 (11) 776-785; DOI: 10.1136/jmedgenet-2015-103695
  • KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability
    Namik Kaya, Maysoon Alsagob, Maria Cristina D'Adamo, Albandary Al-Bakheet, Sonia Hasan, Maria Muccioli, Faten B Almutairi, Rawan Almass, Mazhor Aldosary, Dorota Monies, Osama M Mustafa, Banan Alyounes, Rosan Kenana, Jawaher Al-Zahrani, Eva Naim, Faisal S Binhumaid, Alya Qari, Fatema Almutairi, Brian Meyer, Timothy F Plageman, Mauro Pessia, Dilek Colak, Mohammed Al-Owain
    Journal of Medical Genetics Nov 2016, 53 (11) 786-792; DOI: 10.1136/jmedgenet-2015-103637
  • New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study
    Inga Plaskocinska, Hannah Shipman, James Drummond, Edward Thompson, Vanessa Buchanan, Barbara Newcombe, Charlotte Hodgkin, Elisa Barter, Paul Ridley, Rita Ng, Suzanne Miller, Adela Dann, Victoria Licence, Hayley Webb, Li Tee Tan, Margaret Daly, Sarah Ayers, Barnaby Rufford, Helena Earl, Christine Parkinson, Timothy Duncan, Mercedes Jimenez-Linan, Gurdeep S Sagoo, Stephen Abbs, Nicholas Hulbert-Williams, Paul Pharoah, Robin Crawford, James D Brenton, Marc Tischkowitz
    Journal of Medical Genetics Oct 2016, 53 (10) 655-661; DOI: 10.1136/jmedgenet-2016-103902
  • Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos
    Ruizhi Feng, Zheng Yan, Bin Li, Min Yu, Qing Sang, Guoling Tian, Yao Xu, Biaobang Chen, Ronggui Qu, Zhaogui Sun, Xiaoxi Sun, Li Jin, Lin He, Yanping Kuang, Nicholas J Cowan, Lei Wang
    Journal of Medical Genetics Oct 2016, 53 (10) 662-671; DOI: 10.1136/jmedgenet-2016-103891
  • Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene
    Jung-Young Park, Elizabeth L Virts, Anna Jankowska, Constanze Wiek, Mohamed Othman, Sujata C Chakraborty, Gail H Vance, Fowzan S Alkuraya, Helmut Hanenberg, Paul R Andreassen
    Journal of Medical Genetics Oct 2016, 53 (10) 672-680; DOI: 10.1136/jmedgenet-2016-103847

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