Alexander Tchourbanov

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins et al. · The American Journal of Human Genetics · 2023 · 305 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +14

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome

Michael F. Hammer, Atsushi Ishii, Laurel Johnstone et al. · PLoS ONE · 2017 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Dynamic attachment of Chlorovirus PBCV-1 to Chlorella variabilis

Irina Agarkova, Brigitte Hertel, Xinzheng Zhang et al. · Virology · 2014 · 23 citations · Full text

Life Sciences, Infectious Diseases, Microbiology +12

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP

Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins et al. · medRxiv · 2023 · 16 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17