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

Bari J. Ballew, Meredith Yeager, Kevin B. Jacobs, +5

Human Genetics

Genome InstabilityGeneticsDyskeratosis CongenitaGenomic MechanismMolecular Biology +4

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, +21

PLoS Genetics

ChromatinGenome InstabilityMendelian DisorderSevere ImmunodeficiencyGenetic Disorder +12

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

Hande Koçak, Bari J. Ballew, Kamlesh Bisht, +5

Genes & Development

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

Jiwei Bai, Jianxin Shi, Chuzhong Li, +25

Nature Communications

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, +14

Blood

Lack of transgenerational effects of ionizing radiation exposure from the Chernobyl accident

Meredith Yeager, Mitchell J. Machiela, Prachi Kothiyal, +33

Science

Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma

Michael J. Kelley, Jianxin Shi, Bari J. Ballew, +17

Human Genetics

Genetic DisorderGeneticsEvolutionary BiologyMolecular GeneticsGenetic Variation +6

Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes

Lisa J. McReynolds, Maryam Rafati, Youjin Wang, +20

Blood

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up

Ashley Burris, Bari J. Ballew, Joshua B. Kentosh, +47

Pediatric Neurology

Mendelian DisorderParn MutationsGenetic DisorderGeneticsPathology +3

Novel <i>FANCI</i> mutations in Fanconi anemia with VACTERL association

Sharon A. Savage, Bari J. Ballew, Neelam Giri, +4

American Journal of Medical Genetics Part A