Author

H. Sczakiel

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Open access Sep 2026

Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VI.

Using long-read sequencing, two biallelic splice-site variants in CPLANE1, c.8633-4_8633-3del and an Alu element insertion close to an exon-intron boundary are found and re-classify the c.8633-4_8633-3del variant from a variant of uncertain significance (VUS) to likely pathogenic.

J. Pozojevic, H. Sczakiel, S. Balachandran et al. · European Journal of Human Ge... · 0 citations

Open access Jun 2026

Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability

The data suggest PREP deficiency as the underlying cause of a syndromic neurodevelopmental disorder.

Erik Hertstein, Miriam Bertrand, Johannes Kopp et al. · Journal of Medical Genetics · 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 be...

Marina Boon, Meghan R. Mulligan, Jolijn J. A. Verseput et al. · American Journal of Human Ge... · 0 citations