Shahida Moosa

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

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

Shahida Moosa, Guilherme Lopes Yamamoto, Lutz Garbes et al. · The American Journal of Human Genetics · 2019 · 63 citations · Full text

Autosomal-recessive Mutations, Developmental Biology, Mendelian Disorder +6

Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome

Muhammad Sajid Hussain, Agatino Battaglia, Sandra Szczepanski et al. · The American Journal of Human Genetics · 2014 · 47 citations

Fibrosis, Mendelian Disorder, Disease Mechanism +10

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

Najim Lahrouchi, Aman George, Ilham Ratbi et al. · Nature Communications · 2019 · 38 citations · Full text

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann et al. · Nature Genetics · 2024 · 34 citations · Full text