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Journal of the Endocrine Society|July 14, 2021
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UKFederica Buonocore, Avinaash Maharaj, Younus Qamar, et al.
Journal of Medical Genetics|February 4, 2015
BRCA1 Circos: a visualisation resource for functional analysis of missense variantsAnkita Jhuraney, Aneliya Velkova, Randall C Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 22, 2023
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosureJoshua Nolan, James Buchanan, John Taylor, et al.
Science Translational Medicine|November 26, 2020
Antitumor activity without on-target off-tumor toxicity of GD2-chimeric antigen receptor T cells in patients with neuroblastomaKarin Straathof, Barry Flutter, Rebecca Wallace, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2025
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndromeSusan Walker, David J Bunyan, Huw B Thomas, et al.
Nature Medicine|June 25, 2026
Metabolic determinants of cancer immunotherapy outcomes identified by plasma profilingDéborah Suissa, Marine Fidelle, Ella Reich, et al.
American Journal of Medical Genetics. Part A|September 21, 2016
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutationsPatricia Fergelot, Martine Van Belzen, Julien Van Gils, et al.
Cancer Cell|March 11, 2025
Low-dose irradiation of the gut improves the efficacy of PD-L1 blockade in metastatic cancer patientsJianzhou Chen, Antonin Levy, Ai-Ling Tian, et al.
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