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  • Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore
    Pei Sze Ng, Rick ACM Boonen, Eldarina Wijaya, Chan Eng Chong, Milan Sharma, Sabine Knaup, Shivaani Mariapun, Weang Kee Ho, Joanna Lim, Sook-Yee Yoon, Nur Aishah Mohd Taib, Mee Hoong See, Jingmei Li, Swee Ho Lim, Ern Yu Tan, Benita Kiat-Tee Tan, Su-Ming Tan, Veronique Kiat-Mien Tan, Rob Martinus van Dam, Kartini Rahmat, Cheng Har Yip, Sara Carvalho, Craig Luccarini, Caroline Baynes, Alison M Dunning, Antonis Antoniou, Haico van Attikum, Douglas F Easton, Mikael Hartman, Soo Hwang Teo
  • Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy
    Zhimei Liu, Li Zhang, Changhong Ren, Manting Xu, Shufang Li, Rui Ban, Ye Wu, Ling Chen, Suzhen Sun, Matthias Elstner, Masaru Shimura, Minako Ogawa-Tominaga, Kei Murayama, Tieliu Shi, Holger Prokisch, Fang Fang
  • Improving the clinical interpretation of missense variants in X linked genes using structural analysis
    Shalaw Rassul Sallah, Jamie M Ellingford, Panagiotis I Sergouniotis, Simon C Ramsden, Nicholas Lench, Simon C Lovell, Graeme C Black
  • High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer
    D Gareth Evans, Elke Maria van Veen, Helen J Byers, Sarah J Evans, George J Burghel, Emma Roisin Woodward, Elaine F Harkness, Diana M Eccles, Stephanie L Greville-Haygate, Jamie M Ellingford, Naomi L Bowers, Marta Pereira, Andrew J Wallace, Sasha J Howell, Anthony Howell, Fiona Lalloo, William G Newman, Miriam Jane Smith
  • Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitus
    Haipeng Pang, Ying Xia, Shuoming Luo, Gan Huang, Xia Li, Zhiguo Xie, Zhiguang Zhou
  • Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors
    Mikey B Lebrett, Emma J Crosbie, Miriam J Smith, Emma R Woodward, D Gareth Evans, Philip A J Crosbie
  • Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants
    Kasper A Overbeek, Mar DM Rodríguez-Girondo, Anja Wagner, Nienke van der Stoep, Peter C van den Akker, Jan C Oosterwijk, Theo A van Os, Lizet E van der Kolk, Hans F A Vasen, Frederik J Hes, Djuna L Cahen, Marco J Bruno, Thomas P Potjer
  • De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy
    Aviel Ragamin, Carolina C Gomes, Karen Bindels-de Heus, Renata Sandoval, Angelia V Bassenden, Luciano Dib, Fernando Kok, Julieta Alves, Irene Mathijssen, Evita Medici-Van den Herik, Robert Eveleigh, Tenzin Gayden, Bas Pullens, Albert Berghuis, Marjon van Slegtenhorst, Martina Wilke, Nada Jabado, Grazia Maria Simonetta Mancini, Ricardo Santiago Gomez
  • 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

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