Charlotte Nguyen

Genome-wide detection of tandem DNA repeats that are expanded in autism

Brett Trost, Worrawat Engchuan, Charlotte Nguyen et al. · Nature · 2020 · 246 citations · Full text

Tandem Dna, Dna Sequencing, Syndromic Autism +6

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

Egor Dolzhenko, Mark F. Bennett, Phillip A. Richmond et al. · Genome biology · 2020 · 215 citations · Full text

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

Galen E.B. Wright, Jennifer A. Collins, Chris Kay et al. · The American Journal of Human Genetics · 2019 · 200 citations · Full text

Neurodegenerative Diseases, Genetics, Polyglutamine Size +5

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in <i>GLS</i>

André B. P. Kuilenburg, Maja Tarailo‐Graovac, Phillip A. Richmond et al. · New England Journal of Medicine · 2019 · 102 citations · Full text

Impact of DNA source on genetic variant detection from human whole-genome sequencing data

Brett Trost, Susan Walker, Syed Haider et al. · Journal of Medical Genetics · 2019 · 37 citations · Full text