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Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease

Kevin Eade, Marin L. Gantner, Joseph A. Hostyk, Takayuki Nagasaki, Sarah Giles, Regis Fallon, Sarah Harkins-Perry, Michelle Baldini, Esther W. Lim, Lea Scheppke, Michael I. Dorrell, Carolyn Cai, Evan H. Baugh, Charles J. Wolock, Martina Wallace, Rebecca B. Berlow, David B. Goldstein, Christian M. Metallo, Martin Friedlander & Rando Allikmets. Nature Metabolism 2, 366-377(2021).

Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease

Roberto Bonelli, Sasha M. Woods, Brendan R. E. Ansell, Tjebo F. C. Heeren, Catherine A. Egan, Kamron N. Khan, Robyn Guymer, Jennifer Trombley, Martin Friedlander, Melanie Bahlo & Marcus Fruttiger

Macular Telangiectasia Type 2: Visual Acuity, Disease End Stage, and the MacTel Area. MacTel Project Report 8.

Tjebo F.C. Heeren, MD, Emily Y. Chew, MD, Traci Clemons, PhD, Catherine A. Egan, FRCOphth, Peter Charbel Issa, FEBO, DPhil, for the MacTel Study Group. Ophthalmology (2020).

Longitudinal Assessment of Remnant Foveal Cone Structure in a Case Series of Early Macular Telangiectasia Type 2

Katie M. Litts; Mali Okada; Tjebo F. C. Heeren; Angelos Kalitzeos; Vincent Rocco; Rebecca R. Mastey; Navjit Singh; Thomas Kane; Melissa Kasilian; Marcus Fruttiger; Michel Michaelides; Joseph Carroll; Catherine Egan. Translational Vision Science and Technology (2020).

Genetic Disruption of Serine Biosynthesis is a Key Driver of Macular Telangiectasia Type 2 Etiology and Progression

Roberto Bonelli, Brendan R E Ansell, Luca Lotta, Thomas Scerri, Traci E Clemons, Irene Leung, The MacTel Consortium, Tunde Peto, Alan C Bird, Ferenc B Sallo, Claudia Langenberg, Melanie Bahlo. bioRxiv, Feb 10, 2020.

Dark Adaptation in Macular Telangiectasia Type 2

Tzaridis, Simone MD; Hess, Kristina MD; Heeren, Tjebo F. C. MD; Nadal, Jennifer; Mai, Clarissa; Herrmann, Philipp MD, PhD; Charbel Issa, Peter MD, DPhil; Holz, Frank G. MD. Retina 2019.

Binocular Inhibition of Reading in Macular Telangiectasia Type 2

Simone Tzaridis; Philipp Herrmann; Peter Charbel Issa; Simona Degli Esposti; Siegfried K Wagner; Marcus Fruttiger; Catherine Egan; Gary Rubin; Frank G. Holz; Tjebo F. C. Heeren. IOVS 2019.

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy

Marin L. Gantner, Ph.D., Kevin Eade, Ph.D., Martina Wallace, Ph.D., Michal K. Handzlik, Ph.D., Regis Fallon, B.S., Jennifer Trombley, M.S.N., Roberto Bonelli, M.S., Sarah Giles, B.S., Sarah Harkins-Perry, B.S., Tjebo F.C. Heeren, M.D., Lydia Sauer, M.D., Yoichiro Ideguchi, B.S., Michelle Baldini, Lea Scheppke, Ph.D., Michael I. Dorrell, Ph.D., Maki Kitano, B.S., Barbara J. Hart, B.S., Carolyn Cai, B.A., Takayuki Nagasaki, Ph.D., Mehmet G. Badur, Ph.D., Mali Okada, M.D., Sasha M. Woods,...

Fluorescence Lifetime Imaging Ophthalmoscopy (FLIO) patterns in clinically unaffected children of macular telangiectasia type 2 (MacTel) patients

Sauer, Lydia MD; Vitale, Alexandra S. BS; Andersen, Karl M. BA; Hart, Barbara BS; Bernstein, Paul S. MD, PhD. Retina (2019). doi: 10.1097/IAE.0000000000002646.

Quantification of Retinal and Choriocapillaris Perfusion in Different Stages of Macular Telangiectasia Type 2

Simone Tzaridis; Maximilian W. M. Wintergerst; Clarissa Mai; Tjebo F. C. Heeren; Frank G. Holz; Peter Charbel Issa; Philipp Herrmann. IOVS 2019.

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