Correspondence to Dr Sarah Leigh, Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK; sarah.leigh{at ...
Correspondence to Dr Konark Mukherjee, Genetics, The University of Alabama at Birmingham Heersink School of Medicine, Birmingham, AL 35233, USA; konark{at}vtc.vt.edu Background Pontocerebellar ...
Correspondence to G Beunders, Department of Clinical Genetics, VU University Medical Center Amsterdam, Reception D, De Boellelaan 1117, Amsterdam 1081 HV, The Netherlands; g.beunders{at}vumc.nl ...
1 Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany 2 Institute of Human Genetics, Charité, Campus Virchow-Klinikum, Berlin, Germany 3 Institute of Human Genetics and ...
Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression ...
Background Chimeric antigen receptor T (CAR-T) cells engineered with lentiviral and retroviral vectors have been successfully applied to treat patients with B cell malignancy. However, viral ...
Evaluation of polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study
Background Genome-wide association studies have identified >30 common SNPs associated with epithelial ovarian cancer (EOC). We evaluated the combined effects of EOC susceptibility SNPs on predicting ...
Background Parkinson’s disease (PD) is a neurodegenerative disorder with complex genetic architecture. Besides rare mutations in high-risk genes related to monogenic familial forms of PD, multiple ...
This study was undertaken to establish the prevalence rates at birth of the skeletal dysplasias that can be recognised in the perinatal period. Using the data base of the Latin-American Collaborative ...
4 Department of Clinical Genetics, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK Correspondence to: Dr C M Hall, Department of Radiology, Great Ormond Street Hospital for Children ...
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Correspondence to Dr Yun Yuan, Department of Neurology, Peking University First Hospital, Beijing, China; yuanyun2002{at}126.com; Dr Sushan Luo, Department of Neurology, Huashan Hospital Fudan ...
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