Publications
Identification of constrained sequence elements across 239 primate genomes. Nature. 2024 ;625(7996):735-742.
. Accurate profiling of forensic autosomal STRs using the Oxford Nanopore Technologies MinION device. Forensic Sci Int Genet. 2022 ;56:102629.
. Assessing reproducibility of inherited variants detected with short-read whole genome sequencing. Genome Biol. 2022 ;23(1):2.
. Towards accurate and reliable resolution of structural variants for clinical diagnosis. Genome Biol. 2022 ;23(1):68.
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Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION. Mol Genet Genomic Med. 2019 ;7(3):e564.
. Reproducibility and Variability of Protein Analytes Measured Using a Multiplexed Modified Aptamer Assay. J Appl Lab Med. 2019 ;4(1):30-39.
. Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation. Medicine (Baltimore). 2018 ;97(33):e11865.
. . Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 ;45(4):1633-1648.
. Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. Hum Mutat. 2017 ;38(11):1521-1533.
. 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.
. The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes. J Med Genet. 2017 ;54(2):134-144.
. . Cortical Folding of the Primate Brain: An Interdisciplinary Examination of the Genetic Architecture, Modularity, and Evolvability of a Significant Neurological Trait in Pedigreed Baboons (Genus Papio). Genetics. 2015 ;200(2):651-65.
. FOXO1 is required for binding of PR on IRF4, novel transcriptional regulator of endometrial stromal decidualization. Mol Endocrinol. 2015 ;29(3):421-33.
. . Comparative validation of the D. melanogaster modENCODE transcriptome annotation. Genome Res. 2014 ;24(7):1209-23.
. Metabolomic patterns and alcohol consumption in African Americans in the Atherosclerosis Risk in Communities Study. Am J Clin Nutr. 2014 ;99(6):1470-8.
. Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines. Genome Res. 2014 ;24(7):1193-208.
. Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Hum Genet. 2014 ;133(3):331-45.
. Novel somatic and germline mutations in intracranial germ cell tumours. Nature. 2014 ;511(7508):241-5.
. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. J Med Genet. 2013 ;50(10):674-88.
. Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat. 2013 ;34(10):1439-48.
. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 ;15(1):45-54.
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