Publications
Filters: Keyword is Polymorphism, Single Nucleotide [Clear All Filters]
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med. 2017 ;19(8):936-944.
. Neighboring-nucleotide effects on single nucleotide polymorphisms: a study of 2.6 million polymorphisms across the human genome. Genome Res. 2002 ;12(11):1679-86.
. Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines. Genome Res. 2014 ;24(7):1193-208.
. Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 ;70(12):1491-8.
. 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.
. A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun. 2019 ;10(1):998.
. Multi-omics and pathway analyses of genome-wide associations implicate regulation and immunity in verbal declarative memory performance. Alzheimers Res Ther. 2024 ;16(1):14.
. Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders. BMC Med Genomics. 2024 ;17(1):85.
. Multilayer-omics analysis of renal cell carcinoma, including the whole exome, methylome and transcriptome. Int J Cancer. 2014 ;135(6):1330-42.
. Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration. Nat Commun. 2019 ;10(1):5121.
. Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure. Mol Psychiatry. 2021 ;26(11):6293-6304.
. MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques. Proc Natl Acad Sci U S A. 2018 ;115(11):2806-2811.
. Mining genetic epidemiology data with Bayesian networks I: Bayesian networks and example application (plasma apoE levels). Bioinformatics. 2005 ;21(15):3273-8.
. Mining genetic epidemiology data with Bayesian networks application to APOE gene variation and plasma lipid levels. J Comput Biol. 2005 ;12(1):1-11.
. MethPhaser: methylation-based long-read haplotype phasing of human genomes. Nat Commun. 2024 ;15(1):5327.
. Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels. J Med Genet. 2016 ;53(7):441-9.
. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 ;176(6):1310-1324.e10.
. A map of human genome variation from population-scale sequencing. Nature. 2010 ;467(7319):1061-73.
. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun. 2015 ;6:5897.
. Low frequency of MLL3 mutations in colorectal carcinoma. Cancer Genet Cytogenet. 2009 ;189(2):140-1.
. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 ;9(1):26.
. Large-scale identification of chemically induced mutations in Drosophila melanogaster. Genome Res. 2014 ;24(10):1707-18.
. Kininogen gene (KNG) variation has a consistent effect on aldosterone response to antihypertensive drug therapy: the GERA study. Physiol Genomics. 2009 ;39(1):56-60.
. Investigating single nucleotide polymorphism (SNP) density in the human genome and its implications for molecular evolution. Gene. 2003 ;312:207-13.
. The International HapMap Project. Nature. 2003 ;426(6968):789-96.