J. Lupski

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

Copy Number Gains at 17p11.2 Sparing RAI1: A Shared Phenotype Pattern.

A variety of genomic rearrangement mechanisms contribute to copy number variations at the 17p11.2 locus driven in part by its complex genomic architecture which is characterized by low copy repeats (LCRs) and other repetitive elements, and genomic variations found in 11 families included simple copy number gains, highe...

Expanding the clinical and molecular spectrum of TUBB2B through distinct variants identified across multiple families

The clinical spectrum of TUBB2B-related tubulinopathies is expanded, phenotypic heterogeneity is illustrated, and insights into disease mechanisms including effects at polyamination sites and rare recessive inheritance are provided, underscoring the need for nuanced genotype-phenotype interpretation in diagnostic and c...