Bari J. Ballew

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

Jianxin Shi, Xiaohong R. Yang, Bari J. Ballew et al. · Nature Genetics · 2014 · 333 citations · Full text

Medicine, Dermatology, Molecular Genetics +14

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 · 240 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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 · 140 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 121 citations · Full text

Medicine, Genetics, Oncology +15