X-Linked CGD Chorioretinitis in Two Young Girls by Johnathan Abraham Bailey, Maximilian Daechul Kong, Chanakarn Piamjitchol, Baichun Hou, Abdhel Exinor, Antara Nayak, Noah Heaps, Aykut Demirkol, Stephen H. Tsang

Get full text

Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss. by Jing Chen, Neil Ingham, John Kelly, Shalini Jadeja, David Goulding, Johanna Pass, Vinit B Mahajan, Stephen H Tsang, Anastasia Nijnik, Ian J Jackson, Jacqueline K White, Andrew Forge, Daniel Jagger, Karen P Steel

Get full text

Mcph1-deficient mice reveal a role for MCPH1 in otitis media. by Jing Chen, Neil Ingham, Simon Clare, Claire Raisen, Valerie E Vancollie, Ozama Ismail, Rebecca E McIntyre, Stephen H Tsang, Vinit B Mahajan, Gordon Dougan, David J Adams, Jacqueline K White, Karen P Steel

Get full text

HIF2α activation and mitochondrial deficit due to iron chelation cause retinal atrophy by Yang Kong, Pei‐Kang Liu, Yao Li, Nicholas D Nolan, Peter M J Quinn, Chun‐Wei Hsu, Laura A Jenny, Jin Zhao, Xuan Cui, Ya‐Ju Chang, Katherine J Wert, Janet R Sparrow, Nan‐Kai Wang, Stephen H Tsang

Get full text

Multimodal Imaging and Dark-Adapted Chromatic Perimetry in BEST1 Vitelliform Macular Dystrophy: Identification of Outcome Measurements by Jose Ronaldo Lima de Carvalho, Jr., MD, Jin Kyun Oh, MD, Sara Ragi, BS, Joonpyo Kim, PhD, Remy S. Manzi, MD, Emily Sun, MD, Thiago Cabral, MD, PhD, Rubens Belfort, Jr., MD, PhD, Vivienne C. Greenstein, PhD, Janet R. Sparrow, PhD, Stephen H. Tsang, MD, PhD

Get full text

Safety and efficacy of MCO-010 optogenetic therapy in patients with Stargardt disease in USA (STARLIGHT): an open-label multi-center Ph2 trialResearch in context by Byron L. Lam, Vitaliy Zak, Victor H. Gonzalez, Ninel Z. Gregori, Sai H. Chavala, Subrata Batabyal, Michael Carlson, Sanghoon Kim, Ananta Ayyagari, Jean Chang, Hayley Lane, Nozhat Choudry, John Koester, Mark Von Tress, Jody Piltz-Seymour, Najam A. Sharif, Stephen H. Tsang, Vinit B. Mahajan, David S. Boyer, Allen C. Ho, Samuel B. Barone, Samarendra K. Mohanty

Get full text

Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome. by Rebecca E McIntyre, Pavithra Lakshminarasimhan Chavali, Ozama Ismail, Damian M Carragher, Gabriela Sanchez-Andrade, Josep V Forment, Beiyuan Fu, Martin Del Castillo Velasco-Herrera, Andrew Edwards, Louise van der Weyden, Fengtang Yang, Sanger Mouse Genetics Project, Ramiro Ramirez-Solis, Jeanne Estabel, Ferdia A Gallagher, Darren W Logan, Mark J Arends, Stephen H Tsang, Vinit B Mahajan, Cheryl L Scudamore, Jacqueline K White, Stephen P Jackson, Fanni Gergely, David J Adams

Get full text

Variants in CFAP410 cause a range of retinal and skeletal phenotypes by Ryan E. Schmidt, Amy E. Pohodich, David Birch, Kaylie Jones, Byron L. Lam, Emily H. Jung, Nieraj Jain, Michalis Georgiou, Omar A. Mahroo, Andrew R. Webster, Michel Michaelides, Benjamin Bakall, Alessandro Iannaccone, Ajoy Vincent, Deepika C. Parameswarappa, Elise Heon, Hendrik P. N. Scholl, Lucas Janeschitz-Kriegl, Elias I. Traboulsi, Wadih Zein, Brian P. Brooks, Catherine Cukras, Robert Hufnagel, Tomas S. Aleman, Mohamed M. Sylla, Stephen H. Tsang, Michelle Alabek, Jose Sahel, Michael B. Gorin, Maria M. van Genderen, Katarina Stingl, Milda Reith, Susanne Kohl, Rebeca Azevedo Souza Amaral, Juliana Maria Ferraz Sallum, Andrea L. Vincent, Sarah Hull, Jacque L. Duncan, James V. M. Hanson, Matthias Tedeus, Jordi Maggi, Urs Graf, Samuel Koller, Wolfgang Berger, Christina Gerth-Kahlert, Molly Marra, Lesley A. Everett, Paul Yang, Mark E. Pennesi

Get full text