Markéta Vlčková

The Human Phenotype Ontology in 2024: phenotypes around the world

Michael Gargano, Nicolas Matentzoglu, Ben Coleman et al. · Nucleic Acids Research · 2023 · 311 citations · Full text

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

Anindita Basak, Miroslava Hančárová, Jacob C. Ulirsch et al. · Journal of Clinical Investigation · 2015 · 144 citations · Full text

Bcl11a Deletions, Brain Development, Genetics +22

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko et al. · Brain · 2021 · 138 citations · Full text

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Viviana Cordeddu, Jiani C. Yin, Cecilia Gunnarsson et al. · Human Mutation · 2015 · 81 citations · Full text

Developmental Biology, Somatic Variant, Mendelian Disorder +14