Publications
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Hum Genet 138, 1105-1115 (2019).
Intensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats. J Mol Biol 429, 435-445 (2017).
Localized structural frustration for evaluating the impact of sequence variants. Nucleic Acids Res 44, 10062-10073 (2016).
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. Hum Mutat 39, 378-382 (2018).
A novel pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures. Cold Spring Harb Mol Case Stud 4, (2018).
Rapid, Paralog-Sensitive CNV Analysis of 2457 Human Genomes Using QuicK-mer2. Genes (Basel) 11, (2020).
Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen 56, 419-36 (2015).