Moosa, Shahida

Top Publications

Top Publications Authored or Co-Authored by "Moosa, Shahida"

• GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

  Nature Genetics, Volume 54, No. 3, Year 2022, Citations 69
• Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans

  American Journal of Human Genetics, Volume 110, No. 7, Year 2023, Citations 39
• High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

  Journal of Human Genetics, Volume 66, No. 10, Year 2021, Citations 33
• Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

  Nature Communications, Volume 10, No. 1, Article 1180, Year 2019, Citations 32
• Thyroid dysfunction in a cohort of South African children with Down syndrome

  South African Medical Journal, Volume 103, No. SUPPL. 1, Year 2013, Citations 16