This means I get to re-share this video https://abs.twimg.com/emoji/v2/... draggable="false" alt="😃" title="Smiling face with open mouth" aria-label="Emoji: Smiling face with open mouth"> – our work to characterise 5’UTR variants that create or disrupt upstream open reading frames (uORFs) and explore their role in disease is now out in @NatureComms: https://www.nature.com/articles/s41467-019-10717-9">https://www.nature.com/articles/... @drjamesware @dgmacarthur (2/5)
Our collaboration with @23andMeResearch investigating the phenotypic impact of LRRK2 loss-of-function variants is out in @NatureMedicine: https://www.nature.com/articles/s41591-020-0893-5">https://www.nature.com/articles/... @imarmean @aaronkleinman. I previously outlined the key points of this work here: https://twitter.com/i/status/1101090535010373632">https://twitter.com/i/status/... (3/5)
Since first posting the LRRK2 work on @biorxivpreprint we have also added data from the awesome @uk_biobank – showing that carriers of LRRK2 pLoF variants do not differ from non-carriers across blood and urine biomarkers and for clinical markers of organ function (4/5)
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