Gulsuner S et al. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Res. 2011;21(12):1995-2003.  PMID: 21885617.

Alazami A et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015;10(2):148-161.  PMID: 25558065.

Shaheen R et al. The genetic landscape of familial congenital hydrocephalus. Ann Neurol;81(6):890-897.  PMID: 28556411.