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2018 1
2019 6
2020 0
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Page 1
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, Clokie SJH, Zazo Seco C, Jiang YH, Sørensen KP, Andersen H, Sullivan J, Powis Z, Chassevent A, Smith-Hicks C, Petrovski S, Antoniadi T, Shashi V, Gelb BD, Wilson SW, Gerrelli D, Tartaglia M, Chassaing N, Calvas P, Ragge NK. Holt RJ, et al. Am J Hum Genet. 2019 Sep 5;105(3):640-657. doi: 10.1016/j.ajhg.2019.07.005. Epub 2019 Aug 8. Am J Hum Genet. 2019. PMID: 31402090 Free PMC article.
Compensatory growth renders Tcf7l1a dispensable for eye formation despite its requirement in eye field specification.
Young RM, Hawkins TA, Cavodeassi F, Stickney HL, Schwarz Q, Lawrence LM, Wierzbicki C, Cheng BY, Luo J, Ambrosio EM, Klosner A, Sealy IM, Rowell J, Trivedi CA, Bianco IH, Allende ML, Busch-Nentwich EM, Gestri G, Wilson SW. Young RM, et al. Elife. 2019 Feb 19;8:e40093. doi: 10.7554/eLife.40093. Elife. 2019. PMID: 30777146 Free PMC article.
Abrogation of Stem Loop Binding Protein (Slbp) function leads to a failure of cells to transition from proliferation to differentiation, retinal coloboma and midline axon guidance deficits.
Turner KJ, Hoyle J, Valdivia LE, Cerveny KL, Hart W, Mangoli M, Geisler R, Rees M, Houart C, Poole RJ, Wilson SW, Gestri G. Turner KJ, et al. PLoS One. 2019 Jan 29;14(1):e0211073. doi: 10.1371/journal.pone.0211073. eCollection 2019. PLoS One. 2019. PMID: 30695021 Free PMC article.
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