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Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.
Rees MG, Ng D, Ruppert S, Turner C, Beer NL, Swift AJ, Morken MA, Below JE, Blech I; NISC Comparative Sequencing Program; Mullikin JC, McCarthy MI, Biesecker LG, Gloyn AL, Collins FS. Rees MG, et al. Among authors: ruppert s. J Clin Invest. 2012 Jan;122(1):205-17. doi: 10.1172/JCI46425. Epub 2011 Dec 19. J Clin Invest. 2012. PMID: 22182842 Free PMC article.
Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis.
Pemov A, Sung H, Hyland PL, Sloan JL, Ruppert SL, Baldwin AM, Boland JF, Bass SE, Lee HJ, Jones KM, Zhang X; NISC Comparative Sequencing Program; Mullikin JC, Widemann BC, Wilson AF, Stewart DR. Pemov A, et al. PLoS Genet. 2014 Oct 16;10(10):e1004575. doi: 10.1371/journal.pgen.1004575. eCollection 2014 Oct. PLoS Genet. 2014. PMID: 25329635 Free PMC article.
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. Among authors: ruppert sl. 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.
Observations on intelligence and behavior in 15 patients with Legius syndrome.
Denayer E, Descheemaeker MJ, Stewart DR, Keymolen K, Plasschaert E, Ruppert SL, Snow J, Thurm AE, Joseph LA, Fryns JP, Legius E. Denayer E, et al. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):123-8. doi: 10.1002/ajmg.c.30297. Epub 2011 Apr 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 21495177 Free PMC article.
Content comparison of campus medical amnesty policies.
Weaver GM, Ruppert S, Tabassum QM, Milroy J, Kroshus E, Crawford A, Wyrick D. Weaver GM, et al. Among authors: ruppert s. J Am Coll Health. 2024 May 16:1-7. doi: 10.1080/07448481.2024.2351410. Online ahead of print. J Am Coll Health. 2024. PMID: 38754090
113 results