Export 10 results:Author [ Title] Year
Filters: Keyword is Gene Duplication [Clear All Filters]
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet 24, 4061-77 (2015).
Chimeric transcripts resulting from complex duplications in chromosome Xq28. Hum Genet 135, 253-6 (2016).
Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genet 11, e1005050 (2015).
Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders. Hum Mol Genet 26, 1927-1941 (2017).
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med 16, 386-394 (2014).
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathol Commun 4, 56 (2016).
Predicting human genes susceptible to genomic instability associated with /-mediated rearrangements. Genome Res 28, 1228-1242 (2018).
Rare A2ML1 variants confer susceptibility to otitis media. Nat Genet 47, 917-20 (2015).