Disease progression and clinical outcomes in telomere biology disorders.

Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA

Variations in clot phenotype following injury: The MA-R ratio and fragile clots.

Harrington J, Zarzaur BL, Fox EE, Wade CE, Holcomb JB, Savage SA

Telomere biology disorders gain a family member.

Savage SA

Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li-Fraumeni syndrome.

Siegel A, Bremer RC, Klein WMP, Savage SA, Loud JT, Khincha PP

Lipoprotein particle alterations due to androgen therapy in individuals with dyskeratosis congenita.

Thompson MB, Muldoon D, de Andrade KC, Giri N, Alter BP, Savage SA, Shamburek RD, Khincha PP

Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study.

de Andrade KC, Khincha PP, Hatton JN, Frone MN, Wegman-Ostrosky T, Mai PL, Best AF, Savage SA

Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis.

Kratz CP, Freycon C, Maxwell KN, Nichols KE, Schiffman JD, Evans DG, Achatz MI, Savage SA, Weitzel JN, Garber JE, Hainaut P, Malkin D

Semantic Variant Primary Progressive Aphasia: Practical Recommendations for Treatment from 20 Years of Behavioural Research.

SuĂĄrez-GonzĂĄlez A, Savage SA, Bier N, Henry ML, Jokel R, Nickels L, Taylor-Rubin C

Quantification of Discordant Variant Interpretations in a Large Family-Based Study of Li-Fraumeni Syndrome.

Frone MN, Stewart DR, Savage SA, Khincha PP

Comparison of a trauma comorbidity index with other measures of comorbidities to estimate risk of trauma mortality.

Jenkins PC, Dixon BE, Savage SA, Carroll AE, Newgard CD, Tignanelli CJ, Hemmila MR, Timsina L

Does awareness of condition help people with mild-to-moderate dementia to live well? Findings from the IDEAL programme.

Alexander CM, Martyr A, Gamble LD, Savage SA, Quinn C, Morris RG, Collins R, Clare L, IDEAL programme research team

Measuring Awareness in People With Dementia: Results of a Systematic Scoping Review.

Alexander CM, Martyr A, Savage SA, Morris RG, Clare L

Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles.

Brodie SA, Khincha PP, Giri N, Bouk AJ, Steinberg M, Dai J, Jessop L, Donovan FX, Chandrasekharappa SC, de Andrade KC, Maric I, Ellis SR, Mirabello L, Alter BP, Savage SA

The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.

Thompson AS, Saba N, McReynolds LJ, Munir S, Ahmed P, Sajjad S, Jones K, Yeager M, Donovan FX, Chandrasekharappa SC, Alter BP, Savage SA, Rehman S

DNA-methylation-based telomere length estimator: comparisons with measurements from flow FISH and qPCR.

Pearce EE, Horvath S, Katta S, Dagnall C, Aubert G, Hicks BD, Spellman SR, Katki H, Savage SA, Alsaggaf R, Gadalla SM