Clinical genetics

  • Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
    Cristiane Benincá, Vanessa Zanette, Michele Brischigliaro, Mark Johnson, Aurelio Reyes, Daniel Almeida do Valle, Alan J. Robinson, Andrea Degiorgi, Anna Yeates, Bruno Augusto Telles, Julien Prudent, Enrico Baruffini, Mara Lucia S. F. Santos, Ricardo Lehtonen R. de Souza, Erika Fernandez-Vizarra, Alexander J. Whitworth, Massimo Zeviani
  • Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
    Samuel W Baker, Kelly A Duffy, Jennifer Richards-Yutz, Matthew A Deardorff, Jennifer M Kalish, Arupa Ganguly
  • Genetic and functional insights into CDA-I prevalence and pathogenesis
    Aude-Anais Olijnik, Noémi B A Roy, Caroline Scott, Joseph A Marsh, Jill Brown, Karin Lauschke, Katrine Ask, Nigel Roberts, Damien J Downes, Sanja Brolih, Errin Johnson, Barbara Xella, Melanie Proven, Ria Hipkiss, Kate Ryan, Per Frisk, Johan Mäkk, Eva-Lena Maria Stattin, Nandini Sadasivam, Louisa McIlwaine, Quentin A Hill, Raffaele Renella, Jim R Hughes, Richard J Gibbons, Anja Groth, Peter J McHugh, Douglas R Higgs, Veronica J Buckle, Christian Babbs
  • SETD1B-associated neurodevelopmental disorder
    Alexandra Roston, Dan Evans, Harinder Gill, Margaret McKinnon, Bertrand Isidor, Benjamin Cogné, Jill Mwenifumbo, Clara van Karnebeek, Jianghong An, Steven J M Jones, Matthew Farrer, Michelle Demos, Mary Connolly, William T Gibson, CAUSES Study
  • 15q11.2 deletion is enriched in patients with total anomalous pulmonary venous connection
    Xiaoliang Li, Guocheng Shi, Yang Li, Xiaoqing Zhang, Ying Xiang, Teng Wang, Yanxin Li, Huiwen Chen, Qihua Fu, Hong Zhang, Bo Wang
  • UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants
    Helen Hanson, Angela F Brady, Gillian Crawford, Rosalind A Eeles, Sarah Gibson, Mette Jorgensen, Louise Izatt, Aslam Sohaib, Marc Tischkowitz, D Gareth Evans
  • Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1
    Johannes Münch, Karin M Kirschner, Hendrik Schlee, Cornelia Kraus, Ria Schönauer, Wenjun Jin, Diana Le Duc, Holger Scholz, Jan Halbritter
  • Redefinition of familial intestinal gastric cancer: clinical and genetic perspectives
    Joana Carvalho, Patricia Oliveira, Janine Senz, Celina São José, Samantha Hansford, Sara Pinto Teles, Marta Ferreira, Giovanni Corso, Hugo Pinheiro, Diana Lemos, Valeria Pascale, Franco Roviello, David Huntsman, Carla Oliveira
  • Defining the phenotypical spectrum associated with variants in TUBB2A
    Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, Kathelijn Keymolen, Luc Régal, Romina Romaniello, Dagmar Wieczorek, Tim Matthias Storm, Karin Schaeferhoff, Ute Hehr, Alma Kuechler, Ingeborg Krägeloh-Mann, Tobias B Haack, Esmee Kasteleijn, Rachel Schot, Grazia Maria Simonetta Mancini, Richard Webster, Shekeeb Mohammad, Richard J Leventer, Ghayda Mirzaa, William B Dobyns, Nadia Bahi-Buisson, Marije Meuwissen, Anna C Jansen, Katrien Stouffs
  • Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)
    Sen Zhao, Yuanqiang Zhang, Weisheng Chen, Weiyu Li, Shengru Wang, Lianlei Wang, Yanxue Zhao, Mao Lin, Yongyu Ye, Jiachen Lin, Yu Zheng, Jiaqi Liu, Hengqiang Zhao, Zihui Yan, Yongxin Yang, Yingzhao Huang, Guanfeng Lin, Zefu Chen, Zhen Zhang, Sen Liu, Lichao Jin, Zhaoyang Wang, Jingdan Chen, Yuchen Niu, Xiaoxin Li, Yong Wu, Yipeng Wang, Renqian Du, Na Gao, Hong Zhao, Ying Yang, Ying Liu, Ye Tian, Wenli Li, Yu Zhao, Jia Liu, Bin Yu, Na Zhang, Keyi Yu, Xu Yang, Shugang Li, Yuan Xu, Jianhua Hu, Zhe Liu, Jianxiong Shen, Shuyang Zhang, Jianzhong Su, Anas M Khanshour, Yared H Kidane, Brandon Ramo, Jonathan J Rios, Pengfei Liu, V. Reid Sutton, Jennifer E Posey, Zhihong Wu, Guixing Qiu, Carol A Wise, Feng Zhang, James R Lupski, Jianguo Zhang, Nan Wu

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