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Filters: Keyword is Comparative Genomic Hybridization [Clear All Filters]
Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med 15, 45-54 (2013).
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res 23, 1383-94 (2013).
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet 15, 64 (2014).
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet 23, 342-6 (2015).
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet 24, 4061-77 (2015).
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. Am J Med Genet A 173, 2451-2455 (2017).
Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes. Hum Genet 135, 9-19 (2016).
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders. Hum Genet 138, 257-269 (2019).
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med 16, 386-394 (2014).
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med 18, 443-51 (2016).
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet 135, 569-586 (2016).
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet 97, 691-707 (2015).