Martin A. Mensah

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa et al. · Nature Genetics · 2022 · 208 citations · Full text

Life Sciences, Bioinformatics, Genetics +4

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

Martin A. Mensah, Henri Niskanen, Alexandre P. Magalhães et al. · Nature · 2023 · 152 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

Uirá Souto Melo, Robert Schöpflin, Rocío Acuña‐Hidalgo et al. · The American Journal of Human Genetics · 2020 · 125 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Life Sciences, Bioinformatics, Genetics +17

Combining callers improves the detection of copy number variants from whole-genome sequencing

Marie Coutelier, Manuel Holtgrewe, Marten Jäger et al. · European Journal of Human Genetics · 2021 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17