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Filters: Keyword is Comparative Genomic Hybridization [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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A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Am J Med Genet A. 2018 ;176(9):1897-1909.
. . 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.
. Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes. Hum Genet. 2016 ;135(1):9-19.
. Mechanisms for Complex Chromosomal Insertions. PLoS Genet. 2016 ;12(11):e1006446.
. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 ;135(5):569-586.
. 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.
. Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. PLoS Genet. 2015 ;11(12):e1005686.
. Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2015 ;23(3):342-6.
. 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.
. Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet. 2014 ;23(25):6797-806.
. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 ;16(5):386-394.
. Genetic and clinical analysis of ABCA4-associated disease in African American patients. Hum Mutat. 2014 ;35(10):1187-94.
. Passage number is a major contributor to genomic structural variations in mouse iPSCs. Stem Cells. 2014 ;32(10):2657-67.
. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 ;23(9):1383-94.
. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 ;15(1):45-54.
. Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. Proc Natl Acad Sci U S A. 2011 ;108(46):E1128-36.
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