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Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.
Pathak A, Pemov A, McMaster ML, Dewan R, Ravichandran S, Pak E, Dutra A, Lee HJ, Vogt A, Zhang X, Yeager M, Anderson S, Kirby M; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Caporaso N, Greene MH, Goldin LR, Stewart DR. Pathak A, et al. Among authors: stewart dr. Hum Genet. 2015 Jul;134(7):775-87. doi: 10.1007/s00439-015-1550-9. Epub 2015 May 5. Hum Genet. 2015. PMID: 25939664 Free PMC article. Clinical Trial.
Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model.
Brenneman M, Field A, Yang J, Williams G, Doros L, Rossi C, Schultz KA, Rosenberg A, Ivanovich J, Turner J, Gordish-Dressman H, Stewart D, Yu W, Harris A, Schoettler P, Goodfellow P, Dehner L, Messinger Y, Hill DA. Brenneman M, et al. F1000Res. 2015 Jul 10;4:214. doi: 10.12688/f1000research.6746.2. eCollection 2015. F1000Res. 2015. PMID: 26925222 Free PMC article.
Macrocephaly associated with the DICER1 syndrome.
Khan NE, Bauer AJ, Doros L, Schultz KA, Decastro RM, Harney LA, Kase RG, Carr AG, Harris AK, Williams GM, Dehner LP, Messinger YH, Stewart DR. Khan NE, et al. Among authors: stewart dr. Genet Med. 2017 Feb;19(2):244-248. doi: 10.1038/gim.2016.83. Epub 2016 Jul 21. Genet Med. 2017. PMID: 27441995 Free PMC article.
Mosaic chromosome Y loss and testicular germ cell tumor risk.
Machiela MJ, Dagnall CL, Pathak A, Loud JT, Chanock SJ, Greene MH, McGlynn KA, Stewart DR. Machiela MJ, et al. Among authors: stewart dr. J Hum Genet. 2017 Jun;62(6):637-640. doi: 10.1038/jhg.2017.20. Epub 2017 Mar 9. J Hum Genet. 2017. PMID: 28275244 Free PMC article.
Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study.
Khan NE, Bauer AJ, Schultz KAP, Doros L, Decastro RM, Ling A, Lodish MB, Harney LA, Kase RG, Carr AG, Rossi CT, Field A, Harris AK, Williams GM, Dehner LP, Messinger YH, Hill DA, Stewart DR. Khan NE, et al. Among authors: stewart dr. J Clin Endocrinol Metab. 2017 May 1;102(5):1614-1622. doi: 10.1210/jc.2016-2954. J Clin Endocrinol Metab. 2017. PMID: 28323992 Free PMC article.
279 results