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Tobias Bartolomaeus

@tomaeusTo

Joined April 2015
124 Following 101 Followers 250 Posts

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Tobias Bartolomaeus @tomaeusTo
Sometimes it is worth looking back: We re-analysed and re-evaluated >5 year old exomes of 152 individuals with ID. In 18%, the classification has changed with clinical relevance. nature.com/articles/s4143…
www.nature.com Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals... European Journal of Human Genetics - Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%
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Tobias Bartolomaeus @tomaeusTo
Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases #MorbidGene
academic.oup.com/braincomms/art…
academic.oup.com Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases Beijer et al. report three novel NARS1 mutations segregating with a sensorimotor neuropathy phenotype and through additional functional studies in yeast an
Tobias Bartolomaeus @tomaeusTo
We have double checked this variant in the gnomAD v4 download: 55 of the 57 homozygous counts are from individuals in the non_ukb subset. We are curious to see what the gnomAD team will find in their investigation @https://discuss.gnomad.broadinstitute.org/
James Fasham @JamesFasham Dec 18, 2023
👀60 individuals homozygous for Phe508del (ΔF508) in the new version of gnomAD (v.4.0.0) (~1 in 12,000).

Reminder that individuals with CF exist in UKBB (doi.org/10.1101/2023.0…) and pen. estimate in line with Boussaroque et al 2020 (doi.org/10.1016/j.jcf.…) (see graph)
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