Shahida Moosa

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

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

Shahida Moosa, Guilherme Lopes Yamamoto, Lutz Garbes et al. · The American Journal of Human Genetics · 2019 · 65 citations · Full text

Medicine, Genetics, Molecular Genetics +10

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 · 49 citations

Life Sciences, Genetics, Molecular Genetics +3

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 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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

Medicine, Genetics, Molecular Genetics +17