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NPJ Genomic Medicine|June 9, 2026
Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome InactivationBenilde García-de-Teresa, Tianna Zhao, Consuelo Salas-Labadía, et al.Nature Communications|September 8, 2022
Germline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosisDerek W Brown, Weiyin Zhou, Youjin Wang, et al.Cancer Genetics|May 3, 2016
Current state of pediatric sarcoma biology and opportunities for future discovery: A report from the sarcoma translational research workshopPooja Hingorani, Katherine Janeway, Brian D Crompton, et al.Diabetes|October 5, 2007
Multiple superoxide dismutase 1/splicing factor serine alanine 15 variants are associated with the development and progression of diabetic nephropathy: the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Genetics studyHussam Al-Kateb, Andrew P Boright, Lucia Mirea, et al.Circulation. Cardiovascular Genetics|May 6, 2014
Genome-wide association study identifies variants in casein kinase II (CSNK2A2) to be associated with leukocyte telomere length in a Punjabi Sikh diabetic cohortRicha Saxena, Andrew Bjonnes, Jennifer Prescott, et al.Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|June 12, 2013
Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenitaShahinaz M Gadalla, Carmem Sales-Bonfim, Jeanette Carreras, et al.American Journal of Human Genetics|February 1, 2020
Genome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic AnemiaSharon A Savage, Mathias Viard, Colm O'hUigin, et al.Cancer Research|March 4, 2017
Recommended Guidelines for Validation, Quality Control, and Reporting of <i>TP53</i> Variants in Clinical PracticeBernard Leroy, Mandy L Ballinger, Fanny Baran-Marszak, et al.Cancer Epidemiology|August 18, 2023
Genetically inferred birthweight, height, and puberty timing and risk of osteosarcomaD Matthew Gianferante, Amy Moore, Logan G Spector, et al.Nature|May 11, 2022
Fundamental immune-oncogenicity trade-offs define driver mutation fitnessDavid Hoyos, Roberta Zappasodi, Isabell Schulze, et al.Pageof 71