Heinrich Sticht

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms

The paper identifies de novo LDB1 variants linked to distinct neurodevelopmental phenotypes based on variant location and pathomechanisms, confirmed through in vitro and in vivo studies.

Oncogenicity Variant Interpreter (OncoVI): oncogenicity guidelines implementation to support somatic variants interpretation in precision oncology

OncoVI is a Python-based tool that automates oncogenicity classification of somatic variants using guidelines, achieving 80% accuracy on test data and 79% agreement with expert assessments.

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

The paper identifies STX1A variants causing a neurodevelopmental disorder with or without epilepsy, showing different phenotypes based on variant type.

De novo missense variants in SLC32A1 cause a neurodevelopmental disorder with epilepsy due to impaired GABAergic neurotransmission

This study identifies de novo missense variants in SLC32A1 as a cause of a neurodevelopmental disorder with epilepsy, showing they impair GABAergic neurotransmission through two mechanisms.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

The paper identifies bi-allelic CHKA variants causing a neurodevelopmental disorder with epilepsy and microcephaly through functional analysis in yeast.

Decomposition of the SARS-CoV-2-ACE2 interface reveals a common trend among emerging viral variants

The paper identifies key residues in SARS-CoV-2 variants that affect ACE2 binding using molecular dynamics simulations and energy decomposition.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.