publication venue for
- Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462. 11:e2116. 2023
- Targeted copy number variant identification across the neurodegenerative disease spectrum. 10:e1986. 2022
- Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon. 9:e1609. 2021