MRC Epidemiology Unit

 

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.

Radford EJ, Tan HK, Andersson MHL, Stephenson JD, Gardner EJ, Ironfield H, Waters AJ, Gitterman D, Lindsay S, Abascal F, Martincorena I, Kolesnik-Taylor A, Ng-Cordell E, Firth HV, Baker K, Perry JRB, Adams DJ, Gerety SS, Hurles ME

Nature communications. Dec 2023

(DOI : 10.1038/s41467-023-43041-4)

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Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

Wheeler E, Huang N, Bochukova EG, Keogh JM, Lindsay S, Garg S, Henning E, Blackburn H, Loos RJ, Wareham NJ, O'Rahilly S, Hurles ME, Barroso I, Farooqi IS

Nature genetics. Nov 2012

(DOI : 10.1038/ng.2607)

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