Author

D. Sweetser

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Case report Sep 2026

Syndromic Hirschsprung Disease With a Novel De Novo Sense Exonic SVA Insertion of TCF20.

Transcription Co-Activator Factor 20 (TCF20) Associated Neurodevelopmental Disorder (TAND, OMIM: 618430) is a rare autosomal dominant neurodevelopmental disorder most commonly associated with disruptive TCF20 variants and features overlapping Smith-Magenis syndrome (SMS, OMIM: 182290). Here we present a 40-year-old man...

Briana O'Leary, Aditya Ramanujan, Aria Belle et al. · American Journal of Medical... · 0 citations

Open access Sep 2026

Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration

Pathogenic variants in RUBCN, encoding the Run domain Beclin-1 interacting and cysteine-rich domain-containing protein (Rubicon) have been implicated in autosomal recessive spinocerebellar ataxia 15 (SCAR15). However, the molecular mechanisms underlying disease pathogenesis remain poorly understood. Here, we report 18...

S. Efthymiou, K. Tabata, H. Dafsari et al. · medRxiv · 0 citations