Journal of Medical Genetics

  • Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF
    Mingrong Lv, Wangjie Liu, Wangfei Chi, Xiaoqing Ni, Jiajia Wang, Huiru Cheng, Wei-Yu Li, Shenmin Yang, Huan Wu, Junqiang Zhang, Yang Gao, Chunyu Liu, Caihua Li, Chenyu Yang, Qing Tan, Dongdong Tang, Jingjing Zhang, Bing Song, Yu-Jie Chen, Qiang Li, Yading Zhong, Zhihua Zhang, Hexige Saiyin, Li Jin, Yuping Xu, Ping Zhou, Zhaolian Wei, Chuanmao Zhang, Xiaojin He, Feng Zhang, Yunxia Cao
  • Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis
    Alicia B Byrne, Shuji Mizumoto, Peer Arts, Patrick Yap, Jinghua Feng, Andreas W Schreiber, Milena Babic, Sarah L King-Smith, Christopher P Barnett, Lynette Moore, Kazuyuki Sugahara, Hatice Mutlu-Albayrak, Gen Nishimura, Jan E Liebelt, Shuhei Yamada, Ravi Savarirayan, Hamish S Scott
  • Impacts of genomics on the health and social costs of intellectual disability
    Brett Doble, Deborah Schofield, Carey-Anne Evans, Tudor Groza, John S Mattick, Mike Field, Tony Roscioli
  • 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
  • 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
  • Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients
    Yanbin Fan, Dandan Tan, Danyu Song, Xu Zhang, Xingzhi Chang, Zhaoxia Wang, Cheng Zhang, Sophelia Hoi-Shan Chan, Qixi Wu, Liwen Wu, Shuang Wang, Hui Yan, Lin Ge, Haipo Yang, Bing Mao, Carsten Bönnemann, Jingying Liu, Suxia Wang, Yun Yuan, Xiru Wu, Hong Zhang, Hui Xiong
  • Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality
    Marilena Elpidorou, Sunayna Best, James A Poulter, Verity Hartill, Emma Hobson, Eamonn Sheridan, Colin A Johnson
  • Haploinsufficiency of the NF1 gene is associated with protection against diabetes
    Roope A Kallionpää, Sirkku Peltonen, Jussi Leppävirta, Minna Pöyhönen, Kari Auranen, Hannu Järveläinen, Juha Peltonen
  • Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer
    Honglin Song, Ed M Dicks, Jonathan Tyrer, Maria Intermaggio, Georgia Chenevix-Trench, David D Bowtell, Nadia Traficante, AOCS Group, James Brenton, Teodora Goranova, Karen Hosking, Anna Piskorz, Elke van Oudenhove, Jen Doherty, Holly R Harris, Mary Anne Rossing, Matthias Duerst, Thilo Dork, Natalia V Bogdanova, Francesmary Modugno, Kirsten Moysich, Kunle Odunsi, Roberta Ness, Beth Y Karlan, Jenny Lester, Allan Jensen, Susanne Krüger Kjaer, Estrid Høgdall, Ian G Campbell, Conxi Lázaro, Miguel Angel Pujara, Julie Cunningham, Robert Vierkant, Stacey J Winham, Michelle Hildebrandt, Chad Huff, Donghui Li, Xifeng Wu, Yao Yu, Jennifer B Permuth, Douglas A Levine, Joellen M Schildkraut, Marjorie J Riggan, Andrew Berchuck, Penelope M Webb, OPAL Study Group, Cezary Cybulski, Jacek Gronwald, Anna Jakubowska, Jan Lubinski, Jennifer Alsop, Patricia Harrington, Isaac Chan, Usha Menon, Celeste L Pearce, Anna H Wu, Anna de Fazio, Catherine J Kennedy, Ellen Goode, Susan Ramus, Simon Gayther, Paul Pharoah
  • Rare and de novo duplications containing SHOX in clubfoot
    Brooke Sadler, Gabe Haller, Lilian Antunes, Momchil Nikolov, Ina Amarillo, Bradley Coe, Matthew B. Dobbs, Christina A. Gurnett

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