Concepedia

Htoo A. Wai

HA

11

Publications

526

Citations

11

H-Index

2014

Active since

Affiliations

University of Southampton(Current)

University Hospital Southampton NHS Foundation Trust

Salisbury District Hospital

University of Manchester

Great Ormond Street Hospital

Htoo A. Wai is an author at University of Southampton specializing in cell development, craniofacial development, and stem cell research.

Top concepts

MedicineStem CellsCell BiologyNeural CrestMorphogenesisOdontogenesisCell DevelopmentNeuroregenerationStem Cell BiologyStem Cell Research

Publications per year

2014–2024

11

Publications

11

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Htoo A. Wai, Jenny Lord, Matthew Lyon et al. · Genetics in Medicine · 2020 · 178 citations · Full text

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Sónia Barbosa, Stephanie Greville‐Heygate, Maxime Bonnet et al. · The American Journal of Human Genetics · 2020 · 105 citations · Full text

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Charlie F Rowlands, Huw B. Thomas, Jenny Lord et al. · Scientific Reports · 2021 · 63 citations · Full text

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

Alexander J. M. Blakes, Htoo A. Wai, Ian Davies et al. · Genome Medicine · 2022 · 50 citations · Full text

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

William L. Macken, Annie Godwin, Gabrielle Wheway et al. · Genome Medicine · 2021 · 37 citations · Full text

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