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Siying Lin

As seen in: Nature, Wiley Online Library, MDPI, ACS Publications, Science Magazine, Cell Press, The American Journal of Human Genetics, Emerald Publishing, Texas Medical Center
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Articles

Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series

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By Marianthi Karali, Susanne F. Kohl, Francesco Testa, Eleanor Hay, German Demidov, Tobias B. Haack, Hamid Ghaedi, Siying Lin, Gavin Arno, Rebecca Buchert, Katarina Stingl, Francesca Simonelli, Sandro Banfi, Yasas D. Kolambage, Gemma Natale, Vindya Subasinghe, Pyara Rathnayake, Sarah Wörz
| Nature Verified
Abstract Biallelic variants in the RDH11 gene, a retinol dehydrogenase involved in the visual cycle and systemic retinoid homeostasis, were initially implicated in a rare condition characterized by retinal dystrophy, early-onset cataract, neurodevelopmental anomalies and myopathy, through single-family reports, with this association more recently being confirmed in a larger study.
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The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations

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By Petra Liskova, Lubica Dudakova, Karolina Kaminska Verified, Laura Kühlewein, Stefanida Shliaga, Rina Leibu, Miriam Ehrenberg, Dinah Zur, Jana Zernant, Miriam Bauwens, Gavin Arno, Isabelle Muller, Focke Ziemssen, Viktoria P. Bothe, Francesca Cancellieri, Julie De Zaeytijd, Pascale Mazzola, Winston Lee, Bohdan Kousal, Marie Vajter, L. Ingeborgh van den Born, Caroline C.W. Klaver, Tobias B. Haack, Bernd Wissinger, Andrew Webster, Lonneke Haer-Wigman, Siying Lin, Moreno Menghini, Konrad Platzer, Elfride De Baere, Rando Allikmets, Susanne Roosing, Susanne F. Kohl, Tamar Ben-Yosef, Mathieu Quinodoz, Anton Sonntag, Yoeri van Leeuwen, Dzenita Smailhodzic
| Cell Press Verified
ArticleVolume 7, Issue 4100659Open access Affiliations & Notes 1Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, 128 08, Czechia 2Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, 120 00, Czechia 3Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, 4031, Switzerland 4Department of...
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Design and Evaluation of 68 Ga-Labeled Peptide-Based PET Probes for Noninvasive Imaging of ROR1 Expression in Tumor Models Click to copy article link Article link copied!

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By Tao Yang, Qi An, Siying Lin
| dx.doi.org
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