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Items: 3

1.
Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy
Tiffany Chern, Annita Achilleos, Xuefei Tong, Matthew C. Hill, Alexander B. Saltzman, Lucas C. Reineke, Arindam Chaudhury, Swapan K. Dasgupta, Yushi Redhead, David Watkins, Joel R. Neilson, Perumal Thiagarajan, Jeremy B. A. Green, Anna Malovannaya, James F. Martin, David S. Rosenblatt, Ross A. Poché
Nat Commun. 2022; 13: 134. Published online 2022 Jan 10. doi: 10.1038/s41467-021-27759-7
PMCID:
PMC8748873
ArticlePDF–11M
2.
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities
Anita M. Quintana, Hung-Chun Yu, Alison Brebner, Mihaela Pupavac, Elizabeth A. Geiger, Abigail Watson, Victoria L. Castro, Warren Cheung, Shu-Huang Chen, David Watkins, Tomi Pastinen, Flemming Skovby, Bruce Appel, David S. Rosenblatt, Tamim H. Shaikh
Hum Mol Genet. 2017 Aug 1; 26(15): 2838–2849. Published online 2017 Apr 25. doi: 10.1093/hmg/ddx157
PMCID:
PMC5886234
ArticlePDF–1.0M
3.
Ronin Is Essential for Embryogenesis and the Pluripotency of Mouse ES Cells
Marion Dejosez, Joshua S. Krumenacker, Laura Jo Zitur, Marco Passeri, Li-Fang Chu, Zhou Songyang, James A. Thomson, Thomas P. Zwaka
Cell. Author manuscript; available in PMC 2009 Jun 27.
Published in final edited form as: Cell. 2008 Jun 27; 133(7): 1162–1174. doi: 10.1016/j.cell.2008.05.047
Correction in:
volume 134 on page 692
PMCID:
PMC2495776
ArticlePDF–5.5M

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