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Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, Mlynarski E, Lynch DR, Yan AC, Bilaniuk LT, Sullivan KE, Warren ST, Emanuel BS, Vermeesch JR, Zackai EH, Jerome-Majewska LA. McDonald-McGinn DM, et al. J Med Genet. 2013 Feb;50(2):80-90. doi: 10.1136/jmedgenet-2012-101320. Epub 2012 Dec 11. J Med Genet. 2013. PMID: 23231787 Free PMC article.
Reproducibility of CRISPR-Cas9 methods for generation of conditional mouse alleles: a multi-center evaluation.
Gurumurthy CB, O'Brien AR, Quadros RM, Adams J Jr, Alcaide P, Ayabe S, Ballard J, Batra SK, Beauchamp MC, Becker KA, Bernas G, Brough D, Carrillo-Salinas F, Chan W, Chen H, Dawson R, DeMambro V, D'Hont J, Dibb KM, Eudy JD, Gan L, Gao J, Gonzales A, Guntur AR, Guo H, Harms DW, Harrington A, Hentges KE, Humphreys N, Imai S, Ishii H, Iwama M, Jonasch E, Karolak M, Keavney B, Khin NC, Konno M, Kotani Y, Kunihiro Y, Lakshmanan I, Larochelle C, Lawrence CB, Li L, Lindner V, Liu XD, Lopez-Castejon G, Loudon A, Lowe J, Jerome-Majewska LA, Matsusaka T, Miura H, Miyasaka Y, Morpurgo B, Motyl K, Nabeshima YI, Nakade K, Nakashiba T, Nakashima K, Obata Y, Ogiwara S, Ouellet M, Oxburgh L, Piltz S, Pinz I, Ponnusamy MP, Ray D, Redder RJ, Rosen CJ, Ross N, Ruhe MT, Ryzhova L, Salvador AM, Alam SS, Sedlacek R, Sharma K, Smith C, Staes K, Starrs L, Sugiyama F, Takahashi S, Tanaka T, Trafford AW, Uno Y, Vanhoutte L, Vanrockeghem F, Willis BJ, Wright CS, Yamauchi Y, Yi X, Yoshimi K, Zhang X, Zhang Y, Ohtsuka M, Das S, Garry DJ, Hochepied T, Thomas P, Parker-Thornburg J, Adamson AD, Yoshiki A, Schmouth JF, Golovko A, Thompson WR, Lloyd KCK, Wood JA, Cowan M, Mashimo T, Mizuno S, Zhu H, Kasparek P, Lia… See abstract for full author list ➔ Gurumurthy CB, et al. Genome Biol. 2019 Aug 26;20(1):171. doi: 10.1186/s13059-019-1776-2. Genome Biol. 2019. PMID: 31446895 Free PMC article.
Sf3b4 regulates chromatin remodeler splicing and Hox expression.
Kumar S, Alam SS, Bareke E, Beauchamp MC, Dong Y, Chan W, Majewski J, Jerome-Majewska LA. Kumar S, et al. Among authors: jerome majewska la. Differentiation. 2023 May-Jun;131:59-73. doi: 10.1016/j.diff.2023.04.004. Epub 2023 May 4. Differentiation. 2023. PMID: 37167859
45 results