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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: huang c. Nat Commun. 2023 Jun 9;14(1):3403. doi: 10.1038/s41467-023-39040-0. Nat Commun. 2023. PMID: 37296101 Free PMC article.
Comprehensive characterization of distinct states of human naive pluripotency generated by reprogramming.
Liu X, Nefzger CM, Rossello FJ, Chen J, Knaupp AS, Firas J, Ford E, Pflueger J, Paynter JM, Chy HS, O'Brien CM, Huang C, Mishra K, Hodgson-Garms M, Jansz N, Williams SM, Blewitt ME, Nilsson SK, Schittenhelm RB, Laslett AL, Lister R, Polo JM. Liu X, et al. Among authors: huang c. Nat Methods. 2017 Nov;14(11):1055-1062. doi: 10.1038/nmeth.4436. Epub 2017 Sep 25. Nat Methods. 2017. PMID: 28945704
Aurora Kinase B, a novel regulator of TERF1 binding and telomeric integrity.
Chan FL, Vinod B, Novy K, Schittenhelm RB, Huang C, Udugama M, Nunez-Iglesias J, Lin JI, Hii L, Chan J, Pickett HA, Daly RJ, Wong LH. Chan FL, et al. Among authors: huang c. Nucleic Acids Res. 2017 Dec 1;45(21):12340-12353. doi: 10.1093/nar/gkx904. Nucleic Acids Res. 2017. PMID: 29040668 Free PMC article.
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