SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
2023 · The American Journal of Human Genetics · 24 citations
https://doi.org/10.1016/j.ajhg.2023.03.016
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Kit Sing Au
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Kit Sing Au is an academic researcher from The University of Texas Health Science Center. The author has contributed to research in topics: Tuberous Sclerosis Complex Research & Folate and B Vitamins Research & Spinal Dysraphism and Malformations. The author has an h-index of 35, co-authored 108 publications.
ORCID: 0000-0002-2694-5833Papers by this author
worksHuman myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration
2021 · Scientific Reports · 21 citations
https://doi.org/10.1038/s41598-021-83058-7
Risk of meningomyelocele mediated by the common 22q11.2 deletion
2024 · Science · 21 citations
https://doi.org/10.1126/science.adl1624
Risk of meningomyelocele mediated by the common 22q11.2 deletion
2024 · Science · 21 citations
https://doi.org/10.1126/science.adl1624
ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans
2024 · Genome biology · 12 citations
https://doi.org/10.1186/s13059-023-03147-w
Morphometric analysis of spina bifida after fetal repair shows new subtypes with associated outcomes
2025 · Ultrasound in Obstetrics and Gynecology · 1 citations
https://doi.org/10.1002/uog.70035
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