Publications
Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus. Gigascience. 2022 ;11.
. Correction: Association of low-frequency and rare coding variants with information processing speed. Transl Psychiatry. 2022 ;12(1):88.
. CRISPR/Cas9-induced gene conversion between paralogs. HGG Adv. 2022 ;3(2):100092.
. Curated variation benchmarks for challenging medically relevant autosomal genes. Nat Biotechnol. 2022 ;40(5):672-680.
. Cwc27, associated with retinal degeneration, functions as a splicing factor in vivo. Hum Mol Genet. 2022 ;31(8):1278-1292.
. CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project. J Mol Diagn. 2022 ;24(4):337-350.
. Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy. Genet Med. 2021 ;23(3):488-497.
. Chromoanagenesis Event Underlies a Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome. Front Genet. 2021 ;12:708348.
. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 ;12(1):2182.
. Chromosome-scale, haplotype-resolved assembly of human genomes. Nat Biotechnol. 2021 ;39(3):309-312.
. Clan genomics: From OMIM phenotypic traits to genes and biology. Am J Med Genet A. 2021 ;185(11):3294-3313.
. Clinical characterization of individuals with the distal 1q21.1 microdeletion. Am J Med Genet A. 2021 ;185(5):1388-1398.
. Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021 ;42(6):762-776.
. Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa). Am J Med Genet A. 2021 ;185(3):990-994.
. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nat Commun. 2021 ;12(1):3417.
. Comparative genomic analysis of sifakas () reveals selection for folivory and high heterozygosity despite endangered status. Sci Adv. 2021 ;7(17).
. Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3. J Clin Immunol. 2021 ;41(6):1420-1423.
. A consensus-based ensemble approach to improve transcriptome assembly. BMC Bioinformatics. 2021 ;22(1):513.
. Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. Mol Genet Genomic Med. 2021 ;9(11):e1792.
. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 ;108(9):1710-1724.
. Correction to: Diversity and evolution of the transposable element repertoire in arthropods with particular reference to insects. BMC Ecol Evol. 2021 ;21(1):146.
. COVID-19 disease and malignant cancers: The impact for the gene expression in susceptibility to SARS-CoV-2. Int J Biol Sci. 2021 ;17(14):3954-3967.
. . Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn. 2020 ;20(10):995-1002.
. A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. J Clin Invest. 2020 ;130(8):4118-4132.
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