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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: teboul l. 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.
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: teboul l. 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.
Transgenic expression of Map3k4 rescues T-associated sex reversal (Tas) in mice.
Warr N, Siggers P, Carré GA, Bogani D, Brixey R, Akiyoshi M, Tachibana M, Teboul L, Wells S, Sanderson J, Greenfield A. Warr N, et al. Among authors: teboul l. Hum Mol Genet. 2014 Jun 1;23(11):3035-44. doi: 10.1093/hmg/ddu020. Epub 2014 Jan 22. Hum Mol Genet. 2014. PMID: 24452333 Free PMC article.
Response to "Unexpected mutations after CRISPR-Cas9 editing in vivo".
Nutter LMJ, Heaney JD, Lloyd KCK, Murray SA, Seavitt JR, Skarnes WC, Teboul L, Brown SDM, Moore M. Nutter LMJ, et al. Among authors: teboul l. Nat Methods. 2018 Apr;15(4):235-236. doi: 10.1038/nmeth.4559. Epub 2018 Mar 30. Nat Methods. 2018. PMID: 29600991 No abstract available.
Human and mouse essentiality screens as a resource for disease gene discovery.
Cacheiro P, Muñoz-Fuentes V, Murray SA, Dickinson ME, Bucan M, Nutter LMJ, Peterson KA, Haselimashhadi H, Flenniken AM, Morgan H, Westerberg H, Konopka T, Hsu CW, Christiansen A, Lanza DG, Beaudet AL, Heaney JD, Fuchs H, Gailus-Durner V, Sorg T, Prochazka J, Novosadova V, Lelliott CJ, Wardle-Jones H, Wells S, Teboul L, Cater H, Stewart M, Hough T, Wurst W, Sedlacek R, Adams DJ, Seavitt JR, Tocchini-Valentini G, Mammano F, Braun RE, McKerlie C, Herault Y, de Angelis MH, Mallon AM, Lloyd KCK, Brown SDM, Parkinson H, Meehan TF, Smedley D; Genomics England Research Consortium; International Mouse Phenotyping Consortium. Cacheiro P, et al. Among authors: teboul l. Nat Commun. 2020 Jan 31;11(1):655. doi: 10.1038/s41467-020-14284-2. Nat Commun. 2020. PMID: 32005800 Free PMC article.
86 results