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Critical assessment of missense variant effect predictors on disease-relevant variant data.
Rastogi R, Chung R, Li S, Li C, Lee K, Woo J, Kim DW, Keum C, Babbi G, Martelli PL, Savojardo C, Casadio R, Chennen K, Weber T, Poch O, Ancien F, Cia G, Pucci F, Raimondi D, Vranken W, Rooman M, Marquet C, Olenyi T, Rost B, Andreoletti G, Kamandula A, Peng Y, Bakolitsa C, Mort M, Cooper DN, Bergquist T, Pejaver V, Liu X, Radivojac P, Brenner SE, Ioannidis NM. Rastogi R, et al. Among authors: mort m. bioRxiv [Preprint]. 2024 Jun 8:2024.06.06.597828. doi: 10.1101/2024.06.06.597828. bioRxiv. 2024. PMID: 38895200 Free PMC article. Preprint.
A map of human genome variation from population-scale sequencing.
1000 Genomes Project Consortium; Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. 1000 Genomes Project Consortium, et al. Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Nature. 2010. PMID: 20981092 Free PMC article.
Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and MUTYH-associated Polyposis.
Thomas LE, Hurley JJ, Meuser E, Jose S, Ashelford KE, Mort M, Idziaszczyk S, Maynard J, Brito HL, Harry M, Walters A, Raja M, Walton SJ, Dolwani S, Williams GT, Morgan M, Moorghen M, Clark SK, Sampson JR. Thomas LE, et al. Among authors: mort m. Clin Cancer Res. 2017 Nov 1;23(21):6721-6732. doi: 10.1158/1078-0432.CCR-17-1269. Epub 2017 Aug 8. Clin Cancer Res. 2017. PMID: 28790112
The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis.
Hurley JJ, Thomas LE, Walton SJ, Thomas-Gibson S, Haycock A, Suzuki N, Mort M, Williams G, Morgan M, Clark SK, Sampson JR, Dolwani S. Hurley JJ, et al. Among authors: mort m. Gastrointest Endosc. 2018 Oct;88(4):665-673. doi: 10.1016/j.gie.2018.04.2347. Epub 2018 Apr 24. Gastrointest Endosc. 2018. PMID: 29702101 Free article.
168 results