Kavita Praveen
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, RNA modifications and cancer, RNA Research and Splicing, Genomics and Rare Diseases, Genetic Associations and Epidemiology
Most-Cited Works
- → Exome sequencing and characterization of 49,960 individuals in the UK Biobank(2020)622 cited
- → Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study(2016)593 cited
- → Nuclear Bodies: Random Aggregates of Sticky Proteins or Crucibles of Macromolecular Assembly?(2009)185 cited
- → DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes(2016)163 cited
- → Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank(2019)126 cited
- → CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module(2020)96 cited
- → A Drosophila Model of Spinal Muscular Atrophy Uncouples snRNP Biogenesis Functions of Survival Motor Neuron from Locomotion and Viability Defects(2012)83 cited
- → Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder(2015)69 cited
- → SMA-Causing Missense Mutations in Survival motor neuron (Smn) Display a Wide Range of Phenotypes When Modeled in Drosophila(2014)57 cited
- → Genomic diagnostics within a medically underserved population: efficacy and implications(2017)57 cited