Associated Papers
High number of candidate gene variants are identified as disease-causing in a period of 4 years.
Hills S et al.
American Journal of Medical Genetics. Part A, 2024
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
34514437 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Congenital Heart Defects Due to TAF1 Missense Variants.
Morton SU et al.
Circulation. Genomic and Precision Medicine, 2020
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Cheng H et al.
Human Mutation, 2019
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