Sadhna Rana
Tennessee Cancer Specialists(US)Tata Consultancy Services (India)(IN)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Genomics and Rare Diseases, Immunodeficiency and Autoimmune Disorders, Biochemical and Molecular Research, Metabolism and Genetic Disorders
Most-Cited Works
- → Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B(2016)120 cited
- → Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia(2012)94 cited
- → Redesigning allosteric activation in an enzyme(2011)23 cited
- → Cell‐to‐cell and type‐to‐type heterogeneity of signaling networks: insights from the crowd(2021)14 cited
- → Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges(2019)13 cited
- → Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency(2022)3 cited
- → Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A(2024)3 cited
- → An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance(2025)1 cited
- → Novel Presentation of Recurrent Infection in a Family with NOD2 Mutation(2015)