Alternative splicing is a developmental switch for hTERT expression.

Gynaecological and reproductive health of women with telomere biology disorders.

RTEL1 influences the abundance and localization of TERRA RNA.

Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.

Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.

Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.

Non-primary progressive language impairment in neurodegenerative conditions: protocol for a scoping review.

Family Health Leaders: Lessons on Living with Li-Fraumeni Syndrome across Generations.

Insights into the association between coagulopathy and inflammation: abnormal clot mechanics are a warning of immunologic dysregulation following major injury.

Re-equilibration of imbalanced NAD metabolism ameliorates the impact of telomere dysfunction.

Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.

Genetically predicted telomere length is associated with clonal somatic copy number alterations in peripheral leukocytes.

Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.

A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.