Michael E. Talkowski

The paper investigates the female protective effect against autism spectrum disorder by analyzing genetic risk in siblings and parents of ASD cases, finding evidence of sex differences in inherited genetic risk.

CNV-ClinViewer provides a web tool for clinical interpretation of large copy-number variants by integrating patient and population data with biomedical annotations.

This study investigates the role of ELP1 in neuronal development by analyzing transcriptomes of mouse embryos with varying ELP1 levels, finding that ELP1 regulates gene expression and neuronal development.

The paper investigates how dystonia-specific mutations in THAP1 affect gene transcription related to neurodevelopment and myelin in iPSC-derived neural cells and mouse models.

Mako detects complex structural variants using a graph-based pattern growth approach, achieving 70% validation rate on real data and identifying 15 CSV types including two novel ones.

This study shows that deleting TAD boundaries in mice often causes molecular or developmental phenotypes, highlighting their importance for genome function.

The paper reports de novo structural mutation rates and gamete-of-origin biases using genome sequencing of 2,396 families, finding higher rates in autism cases and paternal origin dominance.

The paper presents 64 haplotype-resolved human genomes using long-read sequencing and identifies structural variants, SV-eQTLs, and adaptive selection candidates.

The paper analyzes secondary-variant burden in BBS cohorts and finds enrichment of trans-acting rare nonsynonymous variants in chaperonin-encoding genes.

This study evaluates genome sequencing as a single diagnostic approach for fetal structural anomalies, showing it detects nearly all variants from standard tests and provides higher diagnostic yield than individual tests.

This paper develops a piggyBac transposon system for CRISPR library delivery to human iPSCs, enabling scalable mutational modeling of genes and variants.

The paper compares structural variant detection using short-read and long-read sequencing in three trios, showing lrWGS finds more SVs but srWGS has high concordance in non-repetitive regions.

The paper functionally annotates rare structural variants in the human brain by integrating SV calling with RNA-seq data to assess their regulatory effects and prioritize pathogenic deletions.

From 125,748 exomes and 15,708 genomes, 443,769 high-confidence predicted loss-of-function variants yield LOEUF, a continuous gene intolerance score tracking mouse lethality, cell essentiality, and disease associations.

The paper uses whole-genome and RNA sequencing from the human prefrontal cortex to identify genetic variants and transcriptomic changes associated with neurodevelopment and neuropsychiatric disorders.

The paper uses deep learning to identify new gene targets for a splicing modulator drug, validating predictions with in vitro assays.

This study identifies SYCP2 translocation and frameshift variants as causes of male infertility through genetic analysis and functional modeling in yeast.

This study prioritizes driver genes in patients with de novo genomic structural variants using integrative analysis of WGS data, phenotype information, and chromatin organization datasets.

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

This study investigates the developmental effects of hypomorphic mutations in the mouse HD gene orthologue, revealing varying degrees of lethality and developmental abnormalities depending on mutation severity.

This study examines the role of noncoding variation in autism spectrum disorder using whole genome sequencing of 2,076 genomes, finding no significant association after correction for multiple testing.

The paper shows that cytoplasmic double-stranded RNA (cdsRNA) from C9ORF72 expansions in ALS-FTD brains triggers IFN-I signaling and neuronal death through a viral-mimetic mechanism.

This study identifies the causal mechanism of X-linked Dystonia-Parkinsonism (XDP) by integrating genome and transcriptome assembly, revealing a SVA insertion causing intron retention and TAF1 dysfunction.

The paper identifies a link between structural genomic disruptions near ultraconserved elements and neurodevelopmental phenotypes.

This study uses nanopore sequencing to detect and phase structural variants in patient genomes, identifying novel variants missed by short-read sequencing.

Indexcov estimates whole-genome sequencing coverage to identify aberrant profiles, chromosomal anomalies, batch effects, and sample sex.