Heiko Brennenstuhl

A multi-dimensional framework for establishing and managing a genomic newborn screening program

The paper develops a multi-dimensional framework for genomic newborn screening programs by defining criteria across clinical, diagnostic, therapeutic, and program management aspects.

Hao-Fountain Syndrome: 32 novel patients reveal new insights into the clinical spectrum

This study reports on 32 novel patients with Hao-Fountain syndrome, expanding the clinical understanding of the disorder and identifying new phenotypic features and genotype-phenotype correlations.

Dynamic X-chromosomal reactivation enhances female brain resilience

The paper shows that reactivation of inactive X-chromosome alleles in female neural cells during differentiation enhances resilience to X-linked neurodevelopmental disorders.

aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

aRgus provides a webtool for visualizing and analyzing non-synonymous variants with pathogenicity scoring to assess genetic vulnerability.