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First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
Rauen KA, Alsaegh A, Ben-Shachar S, Berman Y, Blakeley J, Cordeiro I, Elgersma Y, Evans DG, Fisher MJ, Frayling IM, George J, Huson SM, Kerr B, Khire U, Korf B, Legius E, Messiaen L, van Minkelen R, Nampoothiri S, Ngeow J, Parada LF, Phadke S, Pillai A, Plotkin SR, Puri R, Raji A, Ramesh V, Ratner N, Shankar SP, Sharda S, Tambe A, Vikkula M, Widemann BC, Wolkenstein P, Upadhyaya M. Rauen KA, et al. Among authors: frayling im. Am J Med Genet A. 2019 Jun;179(6):1091-1097. doi: 10.1002/ajmg.a.61125. Epub 2019 Mar 25. Am J Med Genet A. 2019. PMID: 30908877 Free PMC article.
Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway.
McRonald FE, Pethick J, Santaniello F, Shand B, Tyson A, Tulloch O, Goel S, Lüchtenborg M, Borthwick GM, Turnbull C, Shaw AC, Monahan KJ, Frayling IM, Hardy S, Burn J. McRonald FE, et al. Among authors: frayling im. Eur J Hum Genet. 2024 May;32(5):529-538. doi: 10.1038/s41431-024-01550-w. Epub 2024 Feb 15. Eur J Hum Genet. 2024. PMID: 38355963 Free PMC article.
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L. Rojnueangnit K, et al. Among authors: frayling im. Hum Mutat. 2015 Nov;36(11):1052-63. doi: 10.1002/humu.22832. Epub 2015 Aug 21. Hum Mutat. 2015. PMID: 26178382 Free PMC article.
Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.
Whitworth J, Skytte AB, Sunde L, Lim DH, Arends MJ, Happerfield L, Frayling IM, van Minkelen R, Woodward ER, Tischkowitz MD, Maher ER. Whitworth J, et al. Among authors: frayling im. JAMA Oncol. 2016 Mar;2(3):373-9. doi: 10.1001/jamaoncol.2015.4771. JAMA Oncol. 2016. PMID: 26659639 Review.
The NF1 somatic mutational landscape in sporadic human cancers.
Philpott C, Tovell H, Frayling IM, Cooper DN, Upadhyaya M. Philpott C, et al. Among authors: frayling im. Hum Genomics. 2017 Jun 21;11(1):13. doi: 10.1186/s40246-017-0109-3. Hum Genomics. 2017. PMID: 28637487 Free PMC article. Review.
99 results