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M. Konstantino

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Open access Jan 2026

Compound Heterozygous ATM Variants Cause Adolescent‐Onset Cerebellar and Extrapyramidal Disease Without Telangiectasia in a Consanguineous Pakistani Family

The study expands the phenotypic heterogeneity of A–T and extends the allelic spectrum of ATM variants by recruiting a consanguineous Pakistani family with multiple individuals having adolescent‐onset ataxia.

Faiza Aslam, Weizhen Ji, L. Jeffries et al. · 0 citations
Aug 2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

An integrative study combining Mendelian genetics, clinical and association studies, and animal and molecular modeling supports variants in ELAVL2 as a cause of a neurodevelopmental disorder, with haploinsufficiency as the disease mechanism, and identifies crucial roles of ELAVL2 in neuronal function, cognition, and behavior.

Marina Boon, Meghan R. Mulligan, Jolijn J A Verseput et al. · 0 citations