Author

C. Boerkoel

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Review Open access Sep 2026

Pilot Evaluation of a Digital Pretest Education Platform for Genomic Counseling: Perspectives of Health Care Providers and Patients

ABSTRACT Traditional in‐person consultations for genetic services create access barriers. We hypothesized that the Genetics Adviser platform—a web‐based digital platform delivering clinical genomic services—could reduce these barriers. Focusing on pretest education and counseling, we tested a pilot version of the platf...

Duha Hejla, Stéphanie Huynh, Hyunkook Lee et al. · Journal of Genetic Counselin... · 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