Bari J. Ballew

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

Bari J. Ballew, Meredith Yeager, Kevin B. Jacobs et al. · Human Genetics · 2013 · 237 citations · Full text

Genome Instability, Genetics, Dyskeratosis Congenita +6

A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

Bari J. Ballew, Joseph Vijai, Saurav De et al. · PLoS Genetics · 2013 · 135 citations · Full text

Chromatin, Genome Instability, Mendelian Disorder +14

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1

Hande Koçak, Bari J. Ballew, Kamlesh Bisht et al. · Genes & Development · 2014 · 125 citations · Full text

Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival

Jiwei Bai, Jianxin Shi, Chuzhong Li et al. · Nature Communications · 2021 · 112 citations · Full text

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

Elizabeth R. Macari, Lea Jessop, Steven R. Ellis et al. · Blood · 2014 · 95 citations · Full text