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American Journal of Human Genetics|March 15, 2025
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of resultsShona M Kerr, Lucija Klaric, Marisa D Muckian, et al.
Nature|January 18, 2018
Clonal evolution mechanisms in NT5C2 mutant-relapsed acute lymphoblastic leukaemiaGannie Tzoneva, Chelsea L Dieck, Koichi Oshima, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 23, 2016
Mutational landscape, clonal evolution patterns, and role of RAS mutations in relapsed acute lymphoblastic leukemiaKoichi Oshima, Hossein Khiabanian, Ana C da Silva-Almeida, et al.
Nature Medicine|May 12, 2015
Negative feedback-defective PRPS1 mutants drive thiopurine resistance in relapsed childhood ALLBenshang Li, Hui Li, Yun Bai, et al.
Science (New York, N.Y.)|December 2, 2021
Genetic and functional evidence links a missense variant in <i>B4GALT1</i> to lower LDL and fibrinogenMay E Montasser, Cristopher V Van Hout, Lawrence Miloscio, et al.
Nature Communications|September 13, 2024
NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with strokeJuan Lorenzo Rodriguez-Flores, Shareef Khalid, Neelroop Parikshak, et al.
Nature Genetics|August 5, 2024
Genetic risk factors for COVID-19 and influenza are largely distinctJack A Kosmicki, Anthony Marcketta, Deepika Sharma, et al.
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