The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation
Bayesian Network-based Mendelian Randomization for Variant Prioritization and Phenotypic Causal Inference
Identification and Functional Analysis of Rare HECTD1 Missense Variants in Human Neural Tube Defects
lncRNA CDKN2B-AS1 regulates collagen expression
Elucidating the interplay between prostate cancer, education, and fat intake through causal inference and mediation analysis
Heterozygous loss-of function variants in DOCK4 cause neurodevelopmental delay and microcephaly
FBXO11 Variants are Associated with Intellectual Disability and Variable Clinical Manifestation in Chinese Patients
Predicting molecular events underlying rare diseases using variant annotation, aberrant gene expression events, and human phenotype ontology
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity