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GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Nat Genet. 2022 Mar;54(3):349-357. doi: 10.1038/s41588-021-01010-x. Epub 2022 Feb 10.
Nat Genet. 2022.
PMID: 35145301
Free PMC article.
Novel hemizygous loss-of-function variant in NONO identified in a South African boy.
Coetzer KC, Moosa S.
Coetzer KC, et al.
Am J Med Genet A. 2022 Jan;188(1):373-376. doi: 10.1002/ajmg.a.62509. Epub 2021 Sep 22.
Am J Med Genet A. 2022.
PMID: 34549882
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Undiagnosed disease program in South Africa: Results from first 100 exomes.
Moosa S, Coetzer KC, Lee E, Seo GH.
Moosa S, et al. Among authors: coetzer kc.
Am J Med Genet A. 2022 Sep;188(9):2684-2692. doi: 10.1002/ajmg.a.62847. Epub 2022 May 26.
Am J Med Genet A. 2022.
PMID: 35616356
Free PMC article.
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B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum.
Coetzer KC, Dieckerhoff J, Wollnik B, Moosa S.
Coetzer KC, et al.
Eur J Med Genet. 2023 Oct;66(10):104829. doi: 10.1016/j.ejmg.2023.104829. Epub 2023 Aug 30.
Eur J Med Genet. 2023.
PMID: 37657630
Free article.
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Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa.
Coetzer KC, Zöllner E, Moosa S.
Coetzer KC, et al.
Eur J Hum Genet. 2023 Dec 15. doi: 10.1038/s41431-023-01509-3. Online ahead of print.
Eur J Hum Genet. 2023.
PMID: 38102329
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