2 documents found, page 1 of 1
Rubinstein–Taybi syndrome in diverse populations
Tekendo-Ngongang, Cedrik; Owosela, Babajide; Fleischer, Nicole; Addissie, Yonit A.; Malonga, Bryan; Badoe, Ebenezer; Gupta, Neerja; Moresco, AngélicaMade available in DSpace on 2021-06-25T10:11:48Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-12-01; National Human Genome Research Institute; Rubinstein–Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS pheno...
The genomic landscape of balanced cytogenetic abnormalities associated with hum...
Redin, Claire; Brand, Harrison; Collins, Ryan L.; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C.; Hanscom, Carrie; Pillalamarri, VamseeDespite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting t...