2023

Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis

Oyama et al. 2023. J Med Genet

SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants

Fan et al. 2023. Brief Bioinformatics

2022

Predicting functional effect of missense variants using graph attention neural networks

Zhang et al. 2022. Nat Mach Intell

Clinical and genetic characterization of CACNA1A‐related disease

Lipman et al. 2022. Clinical Genetics

The genetic architecture of pediatric cardiomyopathy

Ware et al. 2022. AJHG

2021

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes

Wang et al. 2021. Genome Med.

Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network

Fan et al. 2021. JNCI CS

Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry

Breidbart et al. 2021. JPEM

Genetic basis of hypercholesterolemia in adults

Saadatagah et al. 2021. npj Genom. Med.

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder

Boyle et al. 2021. HGG Advances

Functional interrogation of DNA damage response variants with base editing screens

Cuella-Martin et al. 2021. Cell

Detailed clinical and psychological phenotype of the X-linked HNRNPH2-related neurodevelopmental disorder

Bain et al. 2021. Neurol Genet

Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort

Rosenthal et al. 2021. BMC medical Genom.