Sohela Shah
Directorate-General for Interpretation(BE)
Publications by Year
Research Areas
BRCA gene mutations in cancer, Genetic Associations and Epidemiology, Genomics and Rare Diseases, Genetics, Bioinformatics, and Biomedical Research, CRISPR and Genetic Engineering
Most-Cited Works
- → A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia(2013)324 cited
- → Genetic Defects in Bile Acid Conjugation Cause Fat-Soluble Vitamin Deficiency(2013)124 cited
- → Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk(2013)115 cited
- → Assessment of SLX4 Mutations in Hereditary Breast Cancers(2013)50 cited
- → Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges(2017)50 cited
- → Susceptibility Loci Associated with Specific and Shared Subtypes of Lymphoid Malignancies(2013)49 cited
- → Rare variants in XRCC2 as breast cancer susceptibility alleles: Table 1(2012)44 cited
- → CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops(2013)36 cited
- → Babesia microti Primarily Invades Mature Erythrocytes in Mice(2006)36 cited
- → Rare De Novo Germline Copy-Number Variation in Testicular Cancer(2012)23 cited