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Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, El Khashab HY, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC. Madeo M, et al. Among authors: wells s. Am J Hum Genet. 2016 Jun 2;98(6):1249-1255. doi: 10.1016/j.ajhg.2016.04.008. Epub 2016 May 26. Am J Hum Genet. 2016. PMID: 27236917 Free PMC article.
ENU mutagenesis, a way forward to understand gene function.
Acevedo-Arozena A, Wells S, Potter P, Kelly M, Cox RD, Brown SD. Acevedo-Arozena A, et al. Among authors: wells s. Annu Rev Genomics Hum Genet. 2008;9:49-69. doi: 10.1146/annurev.genom.9.081307.164224. Annu Rev Genomics Hum Genet. 2008. PMID: 18949851 Review.
Overexpression of Fto leads to increased food intake and results in obesity.
Church C, Moir L, McMurray F, Girard C, Banks GT, Teboul L, Wells S, Brüning JC, Nolan PM, Ashcroft FM, Cox RD. Church C, et al. Among authors: wells s. Nat Genet. 2010 Dec;42(12):1086-92. doi: 10.1038/ng.713. Epub 2010 Nov 14. Nat Genet. 2010. PMID: 21076408 Free PMC article.
Analysis of Individual Mouse Activity in Group Housed Animals of Different Inbred Strains using a Novel Automated Home Cage Analysis System.
Bains RS, Cater HL, Sillito RR, Chartsias A, Sneddon D, Concas D, Keskivali-Bond P, Lukins TC, Wells S, Acevedo Arozena A, Nolan PM, Armstrong JD. Bains RS, et al. Among authors: wells s. Front Behav Neurosci. 2016 Jun 10;10:106. doi: 10.3389/fnbeh.2016.00106. eCollection 2016. Front Behav Neurosci. 2016. PMID: 27375446 Free PMC article.
Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.
Potter PK, Bowl MR, Jeyarajan P, Wisby L, Blease A, Goldsworthy ME, Simon MM, Greenaway S, Michel V, Barnard A, Aguilar C, Agnew T, Banks G, Blake A, Chessum L, Dorning J, Falcone S, Goosey L, Harris S, Haynes A, Heise I, Hillier R, Hough T, Hoslin A, Hutchison M, King R, Kumar S, Lad HV, Law G, MacLaren RE, Morse S, Nicol T, Parker A, Pickford K, Sethi S, Starbuck B, Stelma F, Cheeseman M, Cross SH, Foster RG, Jackson IJ, Peirson SN, Thakker RV, Vincent T, Scudamore C, Wells S, El-Amraoui A, Petit C, Acevedo-Arozena A, Nolan PM, Cox R, Mallon AM, Brown SD. Potter PK, et al. Among authors: wells s. Nat Commun. 2016 Aug 18;7:12444. doi: 10.1038/ncomms12444. Nat Commun. 2016. PMID: 27534441 Free PMC article.
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogné B, Küry S, Besnard T, Isidor B, Bézieau S, Hazart I, Nagakura H, Immken LL, Littlejohn RO, Roeder E; EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan; Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewicz MA. Santiago-Sim T, et al. Among authors: wells s. Am J Hum Genet. 2017 Apr 6;100(4):676-688. doi: 10.1016/j.ajhg.2017.03.001. Epub 2017 Mar 23. Am J Hum Genet. 2017. PMID: 28343629 Free PMC article.
1,733 results