Christian Patrick Schaaf

Distinct mechanisms of CNV formation at the human 15q13.3 locus

The paper identifies distinct mechanisms of CNV formation at the human 15q13.3 locus, showing that non-allelic homologous recombination is the primary mechanism, influenced by inversion polymorphisms and population-specific susceptibility.

An NR2F1-dependent retinoic acid network controls retinal specialization in mice and reveals foveal hypoplasia in patients with BBSOAS

The paper identifies an NR2F1-dependent retinoic acid network in mice that regulates retinal specialization and links its disruption to foveal hypoplasia in BBSOAS patients.

SMCHD1 is a novel target for gene-activation therapy to treat Prader-Willi Syndrome

This study identifies SMCHD1 as a target for gene-activation therapy in Prader-Willi Syndrome by showing its role in repressing the PWS gene cluster and demonstrating gene activation in mouse models.

Too rare to be random: genetic finding suggests previously unrecognized path of mutagenesis

The paper identifies a new genotypic configuration in twins with neurodevelopmental disorder, suggesting a previously unrecognized mutagenesis pathway.

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.

Data-driven consideration of genetic disorders for global genomic newborn screening programs

The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.

Oxytocin Gαi signaling-induced amygdala astrocytes processes retraction shapes behavioral stress response

The paper shows that oxytocin-induced astrocyte process retraction in the amygdala modulates freezing behavior during stress by enhancing neuronal sensitivity to potassium.

European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry

EAGER establishes a registry of autistic individuals and those with rare genetic conditions for genomic and phenotypic research, aiming to improve clinical trials and health outcomes through data sharing.

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.

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.

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.

Analysis of the hypothalamic oxytocin system and oxytocin receptor-expressing astrocytes in a mouse model of Prader-Willi syndrome

This study examines the oxytocin system and OTR-expressing astrocytes in a mouse model of PWS, finding reduced oxytocin cells and OTR-expressing astrocytes in specific brain regions with sex-specific differences.

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

The paper demonstrates that recurrent genomic deletions mediated by nonallelic homologous recombination drive recessive disease burden and identifies new disease-contributing variants through exome reanalysis.

A truncating mutation of Magel2 in the rat modelled for the study of Schaaf-Yang and Prader-Willi syndromes alters select behavioral and physiological outcomes

This study generates and characterizes a rat model with a truncating Magel2 mutation, revealing altered behavioral and physiological traits consistent with human neurodevelopmental disorders.

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.