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Sairah Yousaf

National Institutes of Health

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UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.

2021 Genetics in Medicine
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Loss of uba2 function in zebrafish phenocopies a rare human disorder

2020 Investigative Ophthalmology & Visual Science
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PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.

2020 Investigative Ophthalmology & Visual Science
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CSDE1 haploinsufficiency associated with ocular developmental abnormalities in human and zebrafish

2019 Investigative Ophthalmology & Visual Science
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