Alexej Knaus

Next-generation phenotyping in Nigerian children with Cornelia de Lange Syndrome

The paper uses next-generation phenotyping to identify Cornelia de Lange Syndrome in Nigerian children through phenotypic similarity and exome sequencing.

A transgenerational mutational signature from ionizing radiation exposure.

This study finds that paternal exposure to ionizing radiation increases clustered de novo mutations in offspring, suggesting cDNMs as a transgenerational biomarker.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

GestaltMatcher improves diagnosis of ultra-rare genetic disorders by matching facial phenotypes to molecular diagnoses using a deep learning model trained on a large dataset of patient photographs.

Induction of peri-implantation stage synthetic embryos using reprogramming paradigms in ESCs

The paper generates synthetic embryo-like structures from ESCs through transcription factor-mediated reprogramming, showing implantation and decidual tissue formation.

A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions

This paper introduces a CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency that mirrors human phenotypes, including cognitive impairments and epilepsy, and identifies synaptic transmission deficits.

VarFish - Collaborative and Comprehensive Variant Analysis for Diagnosis and Research

VarFish is a web application for variant analysis in rare disease genetics, offering quality control, filtering, annotation, and collaboration tools for diagnostic and research use.

PEDIA: Prioritization of Exome Data by Image Analysis

The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.

Characterization of Glycosylphosphatidylinositol Biosynthesis Defects by Clinical Features, Flow Cytometry, and Automated Image Analysis

The paper evaluates clinical features, flow cytometry, and facial image analysis to classify GPIBDs and identify gene-specific patterns, finding that facial recognition software is most effective for gene prediction.