Joris Andre Veltman

Functional modelling of human infertility-associated genetic variants using C. elegans and mice

This study uses C. elegans and mouse models to functionally validate infertility-associated genetic variants in MSH4, showing their pathogenic effects on meiotic processes in both sexes.

Evolutionary constraint genes implicated in autism spectrum disorder across 2,054 nonhuman primate genomes

The paper identifies ASD-related genes with significant evolutionary constraint in nonhuman primate genomes, highlighting potential for primate models of autism.

Diverse Monogenic Subforms of Human Spermatogenic Failure

This study identifies genetic subforms of non-obstructive azoospermia using exome sequencing and single-cell RNA sequencing, revealing molecular groups of genes involved in spermatogenesis.

De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders

The paper identifies function-altering de novo mutations in neurodevelopmental disorders by analyzing mutational hotspots across homologous protein domains.

Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach

This study phases de novo mutations using a combined long-read and short-read sequencing approach, successfully determining parent-of-origin for 71% of analyzed mutations.

A de novo paradigm for male infertility

The paper identifies de novo mutations as a significant genetic cause of male infertility, finding several candidate genes and an enrichment of loss-of-function and missense mutations in intolerant genes.

Stochasticity explains differences in the number of de novo mutations between families

The paper investigates family-specific contributions to de novo mutations and finds that stochasticity explains most of the variation.

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships

This paper systematically reviews and validates monogenic causes of human male infertility, identifying 120 genes linked to 104 infertility phenotypes and assessing their clinical validity.

Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility

The paper identifies biallelic M1AP mutations as a cause of meiotic arrest and male infertility through whole exome sequencing and cohort screening.

MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

MetaDome provides a web service to analyze genetic variants by aggregating homologous human protein domains, improving interpretation of variants of unknown significance.

A systematic review and standardized clinical validity assessment of male infertility genes

This paper systematically reviews and assesses the clinical validity of genes linked to human male infertility, identifying 67 confidently linked genes across 81 phenotypes.

Germline De Novo Mutation Clusters Arise During Oocyte Aging In Genomic Regions With Increased Double-Strand Break Incidence

The paper identifies maternal age-related mutation clusters in germline de novo mutations linked to double-strand break processes.

Identifying long indels in exome sequencing data of patients with intellectual disability

The paper evaluates long indel detection in exome sequencing data from intellectual disability patients, identifying three pathogenic indels and highlighting the importance of accurate variant calling.