Bernt Popp

SysNDD: A Systematic Database for Neurodevelopmental Disorders

SysNDD is a curated database of gene-disease associations for neurodevelopmental disorders, providing standardized evidence and annotations for 4,275 entities from 4,932 publications.

MucOneUp: A Simulation Framework for MUC1-VNTR Variant Benchmarking

MucOneUp generates MUC1-VNTR reference sequences and simulated sequencing reads to benchmark variant calling tools across platforms.

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

Incorporating Nanopore Sequencing into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti

The paper uses nanopore sequencing to accurately phase a heterozygous deletion in the IKBKG gene in an IP family, confirming its location and X-inactivation status.

The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources

The MorbidGenes panel provides a monthly updated list of rare disease genes with diagnostic relevance, compiled from multiple databases to ensure accuracy and comprehensiveness.

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

Re-evaluation and Re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 20%

The paper re-analyzes 152 exomes from developmental disorder families five years later, finding 20% clinically relevant changes and reclassifying variants.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

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.

A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2

The paper identifies a novel syndrome caused by the gain-of-function variant p.Glu1099Lys in NSD2, leading to distinct clinical features compared to loss-of-function variants.

Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study

The paper identifies pathogenic variants in tubulointerstitial kidney disease genes in 12.5% of a CKD cohort using targeted sequencing and clinical criteria.

Prenatal phenotype of PNKP-related primary microcephaly associated with variants in the FHA and Phosphatase domain

The paper describes the prenatal phenotype of PNKP-related primary microcephaly and characterizes the effects of variants using RNA analysis and structural modeling.

'Exome first' approach can reduce diagnostic costs and time - retrospective single centre analysis of 111 individuals with rare neurodevelopmental disorders

This study shows that early exome sequencing in a German cohort of 111 individuals with rare neurodevelopmental disorders reduces diagnostic costs and time by avoiding unnecessary tests.

Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability

The paper describes the clinical, neuroimaging, and molecular features of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability, providing variant interpretation guidelines and carrier frequency estimates.

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.

Prenatal diagnosis of HNF1B-associated renal cysts: Need to differentiate intragenic variants from 17q12 microdeletion syndrome?

The paper describes prenatal and postnatal phenotypes of seven individuals with HNF1B aberrations and compares their clinical and genetic data to previous studies, highlighting the need for accurate variant classification.

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

The paper identifies and characterizes TUBA1A variants in 166 individuals with tubulinopathy, highlighting common phenotypes and genotype-phenotype associations.

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium

The paper analyzes genetic integrity in iPSCs from the ForIPS consortium, identifying somatic variants and highlighting the need for individual clone evaluation.