S. Antonarakis

Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders

CUB and Sushi domains-containing CSMD proteins are involved in neuron development. Variants in the CSMD1-3 paralogs were GWAS-associated with cognition, attention-deficit hyperactivity disorder (ADHD), schizophrenia and brain structure, suggesting that these genes could be linked to neurodevelopmental disorders (NDD)....

A T2T Benchmark Reveals How Reference Choice Shapes Human Genome Interpretation

It is found that reference choice substantially influences genome interpretation: ancestry-matched linear T2T references provided the most faithful representation of individual genomic variation and enabled more accurate genome reconstruction than unmatched linear, diploid and graph-based references.

De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.

Sequence and epigenetic characterization of chromosome 21 centromeres in a family with recurrent Trisomy 21

It is hypothesized that dCDRs may weaken kinetochore function, increasing nondisjunction risk, and proposed two models linking such epigenetic variation to maternal age-related T21 risk are proposed.