Alexej Knaus

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa et al. · Nature Genetics · 2022 · 195 citations · Full text

Face Detection, Facial Recognition System, Medicine +4

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat et al. · Genome Medicine · 2018 · 87 citations · Full text

PEDIA: prioritization of exome data by image analysis

Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel et al. · Genetics in Medicine · 2019 · 86 citations · Full text

VarFish: comprehensive DNA variant analysis for diagnostics and research

Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen et al. · Nucleic Acids Research · 2020 · 69 citations · Full text

Genetics, Molecular Genetics, Genomics +18

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

Alexej Knaus, Fanny Kortüm, Tjitske Kleefstra et al. · The American Journal of Human Genetics · 2019 · 58 citations · Full text

Brain Anomalies, Pigu Impair, Genetic Disorder +6