Publications
Export 6 results:
Filters: Author is Calame, Daniel G and Keyword is Pedigree [Clear All Filters]
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. Genet Med. 2021 ;23(12):2455-2460.
. Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. Am J Hum Genet. 2023 ;110(4):663-680.
. . High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 ;108(10):1981-2005.
. Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. Am J Med Genet A. 2022 ;188(7):2153-2161.
. Risk of sudden cardiac death in EXOSC5-related disease. Am J Med Genet A. 2021 ;185(8):2532-2540.
.