Publications

Bertoli-Avella AM et al. Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders. Genet Med. 2021;23(8):1551-1568. doi: 10.1038/s41436-021-01159-0. PMID: 33875846.

Asiri A et al. Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay. Ann Clin Transl Neurol. 2020;7(6):956-964. doi: 10.1002/acn3.51059. PMID: 32431071.

Maddirevula S et al. Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update. Front Genet. 2020;11:580484. doi: 10.3389/fgene.2020.580484. PMID: 33456446.