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Shake up conferences.
Silberberg SD, Crawford DC, Finkelstein R, Koroshetz WJ, Blank RD, Freeze HH, Garrison HH, Seger YR. Silberberg SD, et al. Among authors: freeze hh. Nature. 2017 Aug 9;548(7666):153-154. doi: 10.1038/548153a. Nature. 2017. PMID: 28796229 No abstract available.
Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.
Ng BG, Lourenço CM, Losfeld ME, Buckingham KJ, Kircher M, Nickerson DA, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics; Freeze HH. Ng BG, et al. Among authors: freeze hh. J Inherit Metab Dis. 2019 Sep;42(5):993-997. doi: 10.1002/jimd.12091. Epub 2019 Apr 16. J Inherit Metab Dis. 2019. PMID: 30945312 Free PMC article.
Golgi glycosylation and human inherited diseases.
Freeze HH, Ng BG. Freeze HH, et al. Cold Spring Harb Perspect Biol. 2011 Sep 1;3(9):a005371. doi: 10.1101/cshperspect.a005371. Cold Spring Harb Perspect Biol. 2011. PMID: 21709180 Free PMC article. Review.
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.
Losfeld ME, Ng BG, Kircher M, Buckingham KJ, Turner EH, Eroshkin A, Smith JD, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Freeze HH. Losfeld ME, et al. Among authors: freeze hh. Hum Mol Genet. 2014 Mar 15;23(6):1602-5. doi: 10.1093/hmg/ddt550. Epub 2013 Nov 11. Hum Mol Genet. 2014. PMID: 24218363 Free PMC article.
Perspectives on Glycosylation and Its Congenital Disorders.
Ng BG, Freeze HH. Ng BG, et al. Among authors: freeze hh. Trends Genet. 2018 Jun;34(6):466-476. doi: 10.1016/j.tig.2018.03.002. Epub 2018 Mar 29. Trends Genet. 2018. PMID: 29606283 Free PMC article. Review.
Identification of the first COG-CDG patient of Indian origin.
Ng BG, Sharma V, Sun L, Loh E, Hong W, Tay SK, Freeze HH. Ng BG, et al. Among authors: freeze hh. Mol Genet Metab. 2011 Mar;102(3):364-7. doi: 10.1016/j.ymgme.2010.11.161. Epub 2010 Nov 24. Mol Genet Metab. 2011. PMID: 21185756 Free PMC article.
361 results