Jonna Tallila
Blueprint Genetics (Finland)(FI)
Publications by Year
Research Areas
Genomics and Rare Diseases, Connective tissue disorders research, Genetic factors in colorectal cancer, Genetic and Kidney Cyst Diseases, RNA Research and Splicing
Most-Cited Works
- → MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome(2006)252 cited
- → Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease(2008)197 cited
- → Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders(2013)172 cited
- → Breast Cancer Patients with p53 Pro72 Homozygous Genotype Have a Poorer Survival(2005)166 cited
- → Genetics and genotype–phenotype correlations in Finnish patients with dilated cardiomyopathy(2015)162 cited
- → Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle(2008)144 cited
- → Evaluation of RAD50 in familial breast cancer predisposition(2005)63 cited
- → MutantCHUKand Severe Fetal Encasement Malformation(2010)63 cited
- → Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations(2015)53 cited
- → Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients(2021)50 cited