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Increased transcription and increased messenger ribonucleic acid (mRNA) stability contribute to increased GATA6 mRNA abundance in polycystic ovary syndrome theca cells.
Ho CK, Wood JR, Stewart DR, Ewens K, Ankener W, Wickenheisser J, Nelson-Degrave V, Zhang Z, Legro RS, Dunaif A, McAllister JM, Spielman R, Strauss JF 3rd. Ho CK, et al. Among authors: stewart dr. J Clin Endocrinol Metab. 2005 Dec;90(12):6596-602. doi: 10.1210/jc.2005-0890. Epub 2005 Sep 13. J Clin Endocrinol Metab. 2005. PMID: 16159937
Family-based analysis of candidate genes for polycystic ovary syndrome.
Ewens KG, Stewart DR, Ankener W, Urbanek M, McAllister JM, Chen C, Baig KM, Parker SC, Margulies EH, Legro RS, Dunaif A, Strauss JF 3rd, Spielman RS. Ewens KG, et al. Among authors: stewart dr. J Clin Endocrinol Metab. 2010 May;95(5):2306-15. doi: 10.1210/jc.2009-2703. Epub 2010 Mar 3. J Clin Endocrinol Metab. 2010. PMID: 20200332 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.
Rare inactivating PDE11A variants associated with testicular germ cell tumors.
Pathak A, Stewart DR, Faucz FR, Xekouki P, Bass S, Vogt A, Zhang X, Boland J, Yeager M, Loud JT, Nathanson KL, McGlynn KA, Stratakis CA, Greene MH, Mirabello L. Pathak A, et al. Among authors: stewart dr. Endocr Relat Cancer. 2015 Dec;22(6):909-17. doi: 10.1530/ERC-15-0034. Endocr Relat Cancer. 2015. PMID: 26459559 Free PMC article.
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjöld M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID. Stewart DR, et al. Am J Med Genet A. 2004 Aug 1;128A(4):340-51. doi: 10.1002/ajmg.a.30136. Am J Med Genet A. 2004. PMID: 15264279
Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors.
AlDubayan SH, Pyle LC, Gamulin M, Kulis T, Moore ND, Taylor-Weiner A, Hamid AA, Reardon B, Wubbenhorst B, Godse R, Vaughn DJ, Jacobs LA, Meien S, Grgic M, Kastelan Z, Markt SC, Damrauer SM, Rader DJ, Kember RL, Loud JT, Kanetsky PA, Greene MH, Sweeney CJ, Kubisch C, Nathanson KL, Van Allen EM, Stewart DR, Lessel D; Regeneron Genetics Center (RGC) Research Team. AlDubayan SH, et al. Among authors: stewart dr. JAMA Oncol. 2019 Apr 1;5(4):514-522. doi: 10.1001/jamaoncol.2018.6477. JAMA Oncol. 2019. PMID: 30676620 Free PMC article.
Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).
Li MM, Chao E, Esplin ED, Miller DT, Nathanson KL, Plon SE, Scheuner MT, Stewart DR; ACMG Professional Practice and Guidelines Committee. Li MM, et al. Among authors: stewart dr. Genet Med. 2020 Jul;22(7):1142-1148. doi: 10.1038/s41436-020-0783-8. Epub 2020 Apr 23. Genet Med. 2020. PMID: 32321997 Free article. No abstract available.
Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
Stewart DR, Brems H, Gomes AG, Ruppert SL, Callens T, Williams J, Claes K, Bober MB, Hachen R, Kaban LB, Li H, Lin A, McDonald M, Melancon S, Ortenberg J, Radtke HB, Samson I, Saul RA, Shen J, Siqveland E, Toler TL, van Maarle M, Wallace M, Williams M, Legius E, Messiaen L. Stewart DR, et al. Genet Med. 2014 Jun;16(6):448-59. doi: 10.1038/gim.2013.163. Epub 2013 Nov 14. Genet Med. 2014. PMID: 24232412 Free article.
261 results