Publications
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Filters: Keyword is Comparative Genomic Hybridization and Author is Carvalho, Claudia M B [Clear All Filters]
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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 ;185(12):3593-3600.
. Cytogenetically visible inversions are formed by multiple molecular mechanisms. Hum Mutat. 2020 ;41(11):1979-1998.
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Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis. Stem Cell Reports. 2017 ;8(3):519-528.
. Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. Am J Med Genet A. 2017 ;173(9):2451-2455.
. Mechanisms for Complex Chromosomal Insertions. PLoS Genet. 2016 ;12(11):e1006446.
. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med. 2016 ;18(5):443-51.
. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015 ;24(14):4061-77.
. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 2015 ;97(5):691-707.
. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 ;16(5):386-394.
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