Stylianos E. Antonarakis

The paper identifies rare variants in CSMD2 associated with neurodevelopmental disorders, showing both recessive and dominant inheritance patterns and functional impairments.

The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.

This paper benchmarks how reference genome choice affects human genome interpretation by comparing T2T references and finding ancestry-matched references provide more accurate variant discovery.

The paper characterizes chromosome 21 centromeres in a family with recurrent Trisomy 21, identifying a diffuse hypomethylation pattern linked to maternal age-related risk.

The paper introduces a support-based validation framework to correct assembly errors in diploid genomes using independent sequencing evidence.

This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.

The paper identifies a female-specific neurodevelopmental disorder caused by biallelic CIZ1 loss-of-function variants, which disrupt X-chromosome inactivation maintenance.

This study identifies a CNV involving three enhancers that drive bilateral constricted ear malformations by coordinating HMX1 expression through distinct regulatory mechanisms.

The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.

A gapless 3.055 billion bp human genome from HiFi and ultra-long nanopore reads resolves all centromeric arrays and acrocentric p-arms, adding 182 Mbp of new sequence.

CoverageMaster detects and visualizes CNVs in exome and genome data using wavelet compression and HMM, potentially replacing probe-based methods.

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

The paper identifies biallelic truncation variants in ATP9A as a cause of a novel autosomal recessive neurodevelopmental disorder in two consanguineous families.

The paper identifies a dominant monoallelic PAK2 variant causing Knobloch syndrome type 2 with intellectual disability and retinal degeneration.

The paper tests disease-associated Kirrel3 missense variants and finds five attenuate synapse formation, suggesting Kirrel3's synaptogenic function is disrupted in autism and intellectual disability.

The paper combines regulatory element activity, gene expression, and genetic variation data across cell types to show how chromatin structure influences regulatory networks and genetic effects.

The paper uses single-cell allele-specific expression to identify novel XCI escapees and reveals cellular heterogeneity in XCI driven by XIST.

The paper uses single-cell transcriptomes to analyze gene dosage imbalance in aneuploidies, revealing both temporal and spatial dimensions of gene expression changes in trisomies.

This study quantifies genomic, proteomic, and phenotypic variability in HeLa cells across laboratories and passages, revealing implications for research reproducibility.

Time-course single-cell RNA-seq of NR5A1-GFP+ mouse XY gonad cells points to one multipotent somatic progenitor pool that yields Sertoli cells and, progressively, steroidogenic Leydig precursors.

The paper uses single-cell RNA sequencing to analyze leukemic CD34+/CD38- blasts from AML patients, identifying transcriptomic features of self-renewal, mutation effects, and prognostic gene signatures.