Alba Sanchis‐Juan

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger et al. · Bioinformatics · 2019 · 367 citations · Full text

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Alba Sanchis‐Juan, Jonathan Stephens, Courtney E. French et al. · Genome Medicine · 2018 · 190 citations · Full text

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr et al. · The American Journal of Human Genetics · 2018 · 145 citations · Full text

Epileptic Encephalopathy, Neurobiology Of Disease, Pathogenesis +10

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Xiao Chen, Alba Sanchis‐Juan, Courtney E. French et al. · Genetics in Medicine · 2020 · 135 citations · Full text

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall et al. · Nature Communications · 2020 · 123 citations · Full text