Peter Nürnberg

CCB79 is a primate-specific cilium initiation factor essential to maintain neural progenitor diversity in developing brain tissue.

This study identifies CCB79 as a primate-specific protein essential for maintaining neural progenitor diversity in developing brains by regulating ciliogenesis.

CEP162 deficiency causes human retinal degeneration and reveals a dual role inciliogenesis and neurogenesis

The paper shows that CEP162 deficiency causes retinal degeneration by impairing ciliary function, while retaining a role in neurogenesis.

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

This study identifies somatic and germline genetic variants in 474 epileptogenic brain lesions, revealing associations with specific epilepsy subtypes and informing clinical genetic screening.

Phenotypic distinctions of BLM- and RMI1-associated Bloom syndrome

This study reports clinical and molecular findings of eight Bloom syndrome patients, identifying BLM and RMI1 mutations and highlighting phenotypic differences between BLM- and RMI1-associated cases.

Swarm Learning as a privacy-preserving machine learning approach for disease classification

This paper introduces Swarm Learning, a decentralized machine learning approach for disease classification using transcriptomic data, demonstrating its effectiveness in developing classifiers for COVID-19, tuberculosis, and leukemias while preserving privacy.

Identification of pathogenic variant enriched regions across genes and gene families

The paper identifies regions in protein sequences enriched for pathogenic variants using gene family alignments and demonstrates their enrichment in neurodevelopmental disorder de novo variants and ClinVar pathogenic classifications.

Evaluation of copy number burden in specific epilepsy types from a genome-wide study of 18,564 subjects

The paper evaluates copy number burden in specific epilepsy types using a genome-wide study of 18,564 subjects, identifying novel CNV loci and showing deletion burden outside known hotspots in lesional focal epilepsies.

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia

The paper identifies a homozygous NMNAT2 mutation causing polyneuropathy and erythromelalgia in two sisters, linking it to axon degeneration and supporting the role of the Wallerian pathway in human disease.

Whole genome sequence of Mapuche-Huilliche Native Americans

The paper presents the whole genome sequences of 11 Mapuche-Huilliche individuals, identifying novel variants and structural events, and highlights their potential relevance to disease susceptibility in admixed populations.

Common variants in ABCG8 and TRAF3 genes confer risk for gallstone disease and gallbladder cancer in admixed Latinos with Mapuche Native American ancestry

Reassessment Of Lesion-Associated Gene And Variant Pathogenicity In Focal Human Epilepsies

The paper reassesses the pathogenicity of gene variants associated with focal human epilepsies using evolutionary constraint, ACMG guidelines, and bioinformatic tools.

Heterogeneous Contribution of Microdeletions in the Development of Common Generalized and Focal epilepsies

This study examines the role of microdeletions in different epilepsy subtypes, finding enriched contributions in Genetic Generalized Epilepsy but not in Rolandic or Adult Focal Epilepsy.

Topological Demarcation By HMGB2 Is Disrupted Early Upon Senescence Entry Across Cell Types And Induces CTCF Clustering

The paper identifies HMGB2 loss as an early event in senescence that disrupts chromatin organization by inducing CTCF clustering across multiple human cell types.