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Year Number of Results
1989 1
1990 1
1991 1
1992 2
1993 6
1994 3
1995 3
1996 2
1997 3
2000 1
2003 1
2004 1
2006 2
2007 1
2009 2
2012 1
2013 1
2014 1
2015 3
2016 2
2017 3
2018 2
2019 1
2020 3
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2023 3
2024 1

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53 results

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Page 1
Shifting landscapes of human MTHFR missense-variant effects.
Weile J, Kishore N, Sun S, Maaieh R, Verby M, Li R, Fotiadou I, Kitaygorodsky J, Wu Y, Holenstein A, Bürer C, Blomgren L, Yang S, Nussbaum R, Rozen R, Watkins D, Gebbia M, Kozich V, Garton M, Froese DS, Roth FP. Weile J, et al. Among authors: garton m. Am J Hum Genet. 2021 Jul 1;108(7):1283-1300. doi: 10.1016/j.ajhg.2021.05.009. Am J Hum Genet. 2021. PMID: 34214447 Free PMC article.
COMMIT/CCS-2 studies.
Garton M. Garton M. Lancet. 2006 Aug 19;368(9536):642; author reply 642-3. doi: 10.1016/S0140-6736(06)69235-0. Lancet. 2006. PMID: 16920459 No abstract available.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Sheykhkarimli D, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: garton m. Am J Hum Genet. 2023 Oct 5;110(10):1769-1786. doi: 10.1016/j.ajhg.2023.08.012. Epub 2023 Sep 19. Am J Hum Genet. 2023. PMID: 37729906 Free PMC article.
Dawn of a New Era for Membrane Protein Design.
Sowlati-Hashjin S, Gandhi A, Garton M. Sowlati-Hashjin S, et al. Among authors: garton m. Biodes Res. 2022 Apr 15;2022:9791435. doi: 10.34133/2022/9791435. eCollection 2022. Biodes Res. 2022. PMID: 37850134 Free PMC article. Review.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: garton m. bioRxiv [Preprint]. 2023 Feb 6:2023.02.06.527353. doi: 10.1101/2023.02.06.527353. bioRxiv. 2023. PMID: 36798224 Free PMC article. Updated. Preprint.
53 results