Shayda Maher

ORCID: 0000-0002-1987-6104
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About
Contact & Profiles
Research Areas
  • Genetics, Aging, and Longevity in Model Organisms
  • CRISPR and Genetic Engineering
  • Autism Spectrum Disorder Research
  • Retinal Development and Disorders
  • Circadian rhythm and melatonin

California Institute of Technology
2019-2021

Autism spectrum disorder (ASD) involves thousands of alleles in over 850 genes, but the current functional inference tools are not sufficient to predict phenotypic changes. As a result, causal relationship most these genetic variants pathogenesis ASD has yet been demonstrated and an experimental method prioritizing missense for further intensive analysis is crucial. For this purpose, we have designed pipeline that uses Caenorhabditis elegans as model screen phenotype-changing inferred from...

10.1093/hmg/ddz051 article EN Human Molecular Genetics 2019-03-20

Accumulating evidence demonstrates that mutations in ALDH1A3 (the aldehyde dehydrogenase 1 family, member A3) are associated with developmental defects. The enzyme catalyzes retinoic acid biosynthesis and is essential to patterning neuronal differentiation the development of embryonic nervous system. Several missense have been identified family studies autosomal recessive microphthalmia, autism spectrum disorder, other neurological disorders. However, there has no from animal models verify...

10.17912/micropub.biology.000357 article EN microPublication biology 2021-01-14
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