Publications
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Author [ Title] Year Filters: Keyword is Computational Biology [Clear All Filters]
Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics 16, 286 (2015).
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Hum Genet 138, 1105-1115 (2019).
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. Invest Ophthalmol Vis Sci 59, 4552-4557 (2018).
Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family. J Neurointerv Surg 12, 221-226 (2020).
GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat 36, 928-30 (2015).
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res 45, 1633-1648 (2017).
Intensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats. J Mol Biol 429, 435-445 (2017).
Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med 9, 26 (2017).
Localized structural frustration for evaluating the impact of sequence variants. Nucleic Acids Res 44, 10062-10073 (2016).
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles. Hum Mutat 36, 922-7 (2015).
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet 93, 132-40 (2013).
My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings. Genet Med 19, 467-475 (2017).
A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP. J Hum Genet 61, 395-403 (2016).
Rapid, Paralog-Sensitive CNV Analysis of 2457 Human Genomes Using QuicK-mer2. Genes (Basel) 11, (2020).
Ximmer: a system for improving accuracy and consistency of CNV calling from exome data. Gigascience 7, (2018).