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Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
Loong L, Huntley C, McRonald F, Santaniello F, Pethick J, Torr B, Allen S, Tulloch O, Goel S, Shand B, Rahman T, Luchtenborg M, Garrett A, Barber R, Bedenham T, Bourn D, Bradshaw K, Brooks C, Bruty J, Burghel GJ, Butler S, Buxton C, Callaway A, Callaway J, Drummond J, Durkie M, Field J, Jenkins L, McVeigh TP, Mountford R, Nyanhete R, Petrides E, Robinson R, Scott T, Stinton V, Tellez J, Wallace AJ, Yarram-Smith L, Sahan K, Hallowell N, Eccles DM, Pharoah P, Tischkowitz M, Antoniou AC, Evans DG, Lalloo F, Norbury G, Morris E, Burn J, Hardy S, Turnbull C. Loong L, et al. Among authors: mountford r. J Med Genet. 2023 Jul;60(7):669-678. doi: 10.1136/jmg-2022-108800. Epub 2022 Dec 26. J Med Genet. 2023. PMID: 36572524 Free PMC article.
Identification of Cystic Lesions by Secondary Screening of Familial Pancreatic Cancer (FPC) Kindreds Is Not Associated with the Stratified Risk of Cancer.
Sheel ARG, Harrison S, Sarantitis I, Nicholson JA, Hanna T, Grocock C, Raraty M, Ramesh J, Farooq A, Costello E, Jackson R, Chapman M, Smith A, Carter R, Mckay C, Hamady Z, Aithal GP, Mountford R, Ghaneh P, Hammel P, Lerch MM, Halloran C, Pereira SP, Greenhalf W. Sheel ARG, et al. Among authors: mountford r. Am J Gastroenterol. 2019 Jan;114(1):155-164. doi: 10.1038/s41395-018-0395-y. Am J Gastroenterol. 2019. PMID: 30353057
Noncoding copy-number variations are associated with congenital limb malformation.
Flöttmann R, Kragesteen BK, Geuer S, Socha M, Allou L, Sowińska-Seidler A, Bosquillon de Jarcy L, Wagner J, Jamsheer A, Oehl-Jaschkowitz B, Wittler L, de Silva D, Kurth I, Maya I, Santos-Simarro F, Hülsemann W, Klopocki E, Mountford R, Fryer A, Borck G, Horn D, Lapunzina P, Wilson M, Mascrez B, Duboule D, Mundlos S, Spielmann M. Flöttmann R, et al. Among authors: mountford r. Genet Med. 2018 Jun;20(6):599-607. doi: 10.1038/gim.2017.154. Epub 2017 Oct 12. Genet Med. 2018. PMID: 29236091 Free article.
The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families.
Grocock CJ, Rebours V, Delhaye MN, Andrén-Sandberg A, Weiss FU, Mountford R, Harcus MJ, Niemczyck E, Vitone LJ, Dodd S, Jørgensen MT, Ammann RW, Schaffalitzky de Muckadell O, Butler JV, Burgess P, Kerr B, Charnley R, Sutton R, Raraty MG, Devière J, Whitcomb DC, Neoptolemos JP, Lévy P, Lerch MM, Greenhalf W; European Registry of Hereditary Pancreatitis and Pancreatic Cancer. Grocock CJ, et al. Among authors: mountford r. Gut. 2010 Mar;59(3):357-63. doi: 10.1136/gut.2009.186817. Epub 2009 Dec 1. Gut. 2010. PMID: 19951905
102 results