Stephen Warren
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The 1999 Rett syndrome paper
Huda Zoghbi and her colleagues painstakingly sequenced the candidate genes for Rett syndrome, culminating in the 1999 Nature Genetics report that pinpointed six de novo mutations in the MeCP2 gene as the cause of the disorder.
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Machine-learning model spots autism-linked variants that scramble splicing
The model provides a way to investigate genetic variation in regions of the genome whose functions have been difficult to interpret.