Bari J. Ballew
Institute of Bioinformatics and Systems Biology(DE)
Publications by Year
Research Areas
Telomeres, Telomerase, and Senescence, DNA Repair Mechanisms, Genomics and Rare Diseases, BRCA gene mutations in cancer, Cancer-related gene regulation
Most-Cited Works
- → Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma(2014)324 cited
- → Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita(2013)237 cited
- → Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders(2013)211 cited
- → A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome(2013)137 cited
- → Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1(2014)126 cited
- → Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival(2021)114 cited
- → Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families(2014)96 cited
- → Lack of transgenerational effects of ionizing radiation exposure from the Chernobyl accident(2021)95 cited
- → Promoting the genomic revolution in Africa through the Nigerian 100K Genome Project(2022)62 cited
- → Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma(2014)60 cited