Meena Balasubramanian

P263: HNRNP-related neurodevelopmental disorders: Expanding knowledge of known conditions and prompting novel studies into candidate genes

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Recommendations for whole genome sequencing in diagnostics for rare diseases

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>

Clinical findings of 21 previously unreported probands with <i>HNRNPU</i>‐related syndrome and comprehensive literature review

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Mutation update for the <i>SATB2</i> gene

Quantifying the contribution of recessive coding variation to developmental disorders

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum