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NEJM Evidence|July 24, 2023
Prediction of risk for myeloid malignancy in clonal hematopoiesisLachelle D Weeks, Abhishek Niroula, Donna Neuberg, et al.Nature Genetics|February 2, 2000
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fateN B Haider, S G Jacobson, A V Cideciyan, et al.JAMA Ophthalmology|March 1, 2019
Myocilin Mutations in Patients With Normal-Tension GlaucomaWallace L M Alward, Carly van der Heide, Cheryl L Khanna, et al.Haematologica|August 16, 2019
Mutations associated with a 17-gene leukemia stem cell score and the score's prognostic relevance in the context of the European LeukemiaNet classification of acute myeloid leukemiaMarius Bill, Deedra Nicolet, Jessica Kohlschmidt, et al.Leukemia & Lymphoma|March 15, 2022
Outcomes of antifungal prophylaxis for newly diagnosed AML patients treated with a hypomethylating agent and venetoclaxEvan C Chen, Yiwen Liu, Courtney E Harris, et al.American Journal of Ophthalmology|September 11, 2012
Assessing retinal structure in complete congenital stationary night blindness and Oguchi diseasePooja Godara, Robert F Cooper, Panagiotis I Sergouniotis, et al.Proceedings of the National Academy of Sciences of the United States of America|April 12, 2006
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)Annie P Chiang, John S Beck, Hsan-Jan Yen, et al.American Journal of Human Genetics|July 25, 2020
Human iPSC Modeling Reveals Mutation-Specific Responses to Gene Therapy in a Genotypically Diverse Dominant MaculopathyDivya Sinha, Benjamin Steyer, Pawan K Shahi, et al.Proceedings of the National Academy of Sciences of the United States of America|November 23, 2007
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesityRoger E Davis, Ruth E Swiderski, Kamal Rahmouni, et al.Plos Biology|November 27, 2019
Framing the discussion of microorganisms as a facet of social equity in human healthSuzanne L Ishaq, Maurisa Rapp, Risa Byerly, et al.Pageof 214