Elvisa Mehinovic

Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing

J. Korlach, J. Grimwood, J. Constantino, 2021, medRxiv.

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

Evin M. Padhi, Jeffrey K. Ng, D. Dickel, 2021, Human genomics.

ACES: Analysis of Conservation with an Extensive list of Species

Tychele Turner, Evin M. Padhi, Jeffrey K. Ng, 2021, Bioinform..

ACES: Analysis of Conservation with Expansive Species

Evin M. Padhi, Jeffrey K. Ng, Eleanor I Sams, 2021, bioRxiv.

Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome

P. Hruz, K. Engelstad, D. D. De Vivo, 2023, Annals of clinical and translational neurology.