Publications
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. Am J Hum Genet. 2022 ;109(12):2270-2282.
. .
.
Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genet. 2015 ;11(3):e1005050.
.