Marcia A. Hasenahuer
Directorate-General for Interpretation(BE)
Publications by Year
Research Areas
RNA and protein synthesis mechanisms, Genomics and Rare Diseases, Genomics and Phylogenetic Studies, Genetics, Bioinformatics, and Biomedical Research, Hemoglobinopathies and Related Disorders
Most-Cited Works
- → De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment(2020)65 cited
- → CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods(2024)54 cited
- → Pockets as structural descriptors of EGFR kinase conformations(2017)21 cited
- → Curating the gnomAD database: Report of novel variants in the globin‐coding genes and bioinformatics analysis(2019)11 cited
- → Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate(2020)11 cited
- → Highlights from the 1st ISCB Latin American Student Council Symposium 2014(2015)11 cited
- → Bioinformatics calls the school: Use of smartphones to introduce Python for bioinformatics in high schools(2019)6 cited
- → Second ISCB Latin American Student Council Symposium (LA-SCS) 2016(2017)6 cited
- → Hb Wilde and Hb Patagonia: two novel elongated beta‐globin variants causing dominant beta‐thalassemia(2014)4 cited
- → Two novel unstable hemoglobin variants due to in‐frame deletions of key amino acids in the β‐globin chain(2018)4 cited