Martin W. Breuss

This study uses long-read sequencing to reveal extensive somatic mosaicism in FMR1 repeats and methylation in FXTAS brain tissue, identifying expansions and contractions beyond traditional methods' resolution.

CREPE is a computational tool that designs and evaluates primers for large-scale PCR, achieving over 90% successful amplification for acceptable primers.

This study identifies compound heterozygous splice site mutations in LNPK causing neurodevelopmental syndrome, showing exon-skipping and genetic compensation through NMD pathway inhibition.

The paper uses mosaic variant barcodes to analyze clonal dynamics in human forebrain cell types, revealing lineage relationships and clonal spread patterns.

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.

DeepMosaic detects mosaic single nucleotide variants without control samples using deep convolutional neural networks, achieving high accuracy and uncovering many variants missed by existing methods.

The paper assesses the transmission of de novo mutations from sperm to blastocysts in couples undergoing IVF and finds predictable but slightly under-transmitted mutations based on sperm mutational abundance.

The paper evaluates brain somatic mosaicism in the adult human to identify rules governing cellular distribution during embryogenesis.

The paper analyzes sperm mosaic mutations in healthy males, finding that many are stable over time and pose a lifelong transmission risk to offspring.

The paper quantifies autism recurrence risk by detecting paternal sperm mosaicism through single molecule genotyping and whole genome sequencing.