Richard P. Lifton

Mutations in 329 probands with suspected renal electrolyte disorders

The paper identifies genetic mutations in 329 patients with suspected renal electrolyte disorders, finding known/likely disease-causing variants in 295 probands and highlighting non-coding variants and novel mitochondrial mutations.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with critical COVID-19

The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.

A novel SMARCC1-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus

This study identifies SMARCC1 mutations as a cause of congenital hydrocephalus, showing they lead to neural progenitor dysfunction and a new syndrome called SaDDS.

Dual impact of PTEN mutation on CSF dynamics and cortical networks via the dysregulation of neural precursors and their interneuron descendants

This study shows PTEN mutations cause ventriculomegaly and cortical network dysfunction through neural precursor and interneuron dysregulation, with mTORC1 inhibition offering therapeutic potential.

Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations

The paper identifies genetic variants in RASA1 and EPHB4 associated with vein of Galen malformations through exome analysis and single-cell transcriptomics.

Quantifying concordant genetic effects of de novo mutations on multiple disorders

This paper introduces EncoreDNM, a statistical framework to quantify shared genetic effects of de novo mutations between disorders using exome-wide summary data, revealing abundant pairwise enrichment correlations.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.

A genome-wide case-only test for the detection of digenic inheritance in human exomes

The paper introduces a genome-wide case-only test to detect digenic inheritance in human exomes, showing it is more powerful than case-control tests and robust to population stratification.

Early post-zygotic mutations contribute to congenital heart disease

The paper identifies mosaic mutations in blood and cardiac tissue from CHD patients, finding 1% of cases have detectable mosaic variants that may contribute to congenital heart disease.