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Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.
Eade K, Gantner ML, Hostyk JA, Nagasaki T, Giles S, Fallon R, Harkins-Perry S, Baldini M, Lim EW, Scheppke L, Dorrell MI, Cai C, Baugh EH, Wolock CJ, Wallace M, Berlow RB, Goldstein DB, Metallo CM, Friedlander M, Allikmets R. Eade K, et al. Among authors: scheppke l. Nat Metab. 2021 Mar;3(3):366-377. doi: 10.1038/s42255-021-00361-3. Epub 2021 Mar 22. Nat Metab. 2021. PMID: 33758422 Free PMC article.
Genome-wide analyses identify common variants associated with macular telangiectasia type 2.
Scerri TS, Quaglieri A, Cai C, Zernant J, Matsunami N, Baird L, Scheppke L, Bonelli R, Yannuzzi LA, Friedlander M; MacTel Project Consortium; Egan CA, Fruttiger M, Leppert M, Allikmets R, Bahlo M. Scerri TS, et al. Among authors: scheppke l. Nat Genet. 2017 Apr;49(4):559-567. doi: 10.1038/ng.3799. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250457 Free article.
Angiogenesis and Eye Disease.
Usui Y, Westenskow PD, Murinello S, Dorrell MI, Scheppke L, Bucher F, Sakimoto S, Paris LP, Aguilar E, Friedlander M. Usui Y, et al. Among authors: scheppke l. Annu Rev Vis Sci. 2015 Nov 24;1:155-184. doi: 10.1146/annurev-vision-082114-035439. Annu Rev Vis Sci. 2015. PMID: 28532369
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.
Gantner ML, Eade K, Wallace M, Handzlik MK, Fallon R, Trombley J, Bonelli R, Giles S, Harkins-Perry S, Heeren TFC, Sauer L, Ideguchi Y, Baldini M, Scheppke L, Dorrell MI, Kitano M, Hart BJ, Cai C, Nagasaki T, Badur MG, Okada M, Woods SM, Egan C, Gillies M, Guymer R, Eichler F, Bahlo M, Fruttiger M, Allikmets R, Bernstein PS, Metallo CM, Friedlander M. Gantner ML, et al. Among authors: scheppke l. N Engl J Med. 2019 Oct 10;381(15):1422-1433. doi: 10.1056/NEJMoa1815111. Epub 2019 Sep 11. N Engl J Med. 2019. PMID: 31509666 Free PMC article.
Author Correction: Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.
Bonelli R, Jackson VE, Prasad A, Munro JE, Farashi S, Heeren TFC, Pontikos N, Scheppke L, Friedlander M; MacTel Consortium; Egan CA, Allikmets R, Ansell BRE, Bahlo M. Bonelli R, et al. Among authors: scheppke l. Commun Biol. 2021 Apr 9;4(1):473. doi: 10.1038/s42003-021-01972-y. Commun Biol. 2021. PMID: 33837246 Free PMC article. No abstract available.
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