PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
AJM Dingemans, M Hinne, KMG Truijen, L Goltstein… - Nature Genetics, 2023 - nature.com
Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …
correlations, including facial recognition tools. However, no unified framework that …
A large-scale transgenic RNAi screen identifies transcription factors that modulate myofiber size in Drosophila
Myofiber atrophy occurs with aging and in many diseases but the underlying mechanisms
are incompletely understood. Here, we have used> 1,100 muscle-targeted RNAi …
are incompletely understood. Here, we have used> 1,100 muscle-targeted RNAi …
De novo variants of DEAF1 cause intellectual disability in six Chinese patients
S Chen, X Deng, J Xiong, F He, L Yang, B Chen… - Clinica Chimica …, 2021 - Elsevier
Background It has been reported that de novo heterozygous variants of DEAF1 can cause
DEAF1-associated neurodevelopmental disorder. The purpose of this article is to explore …
DEAF1-associated neurodevelopmental disorder. The purpose of this article is to explore …