Genetics in Ophthalmology by Lev Prasov, Stephen T. Armenti, Virginia Miraldi Utz, Julia E. Richards, Robert B. Hufnagel

Get full text

Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis by Robert A. Sisk, Robert B. Hufnagel, Ailee Laham, Elizabeth S. Wohler, Nara Sobreira, Zubair M. Ahmed

Get full text

Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways by Ameera Mungale, David M. McGaughey, Congxiao Zhang, Sairah Yousaf, James Liu, Brian P. Brooks, Arvydas Maminishkis, Temesgen D. Fufa, Robert B. Hufnagel

Get full text

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features by Bianca E. Russell, Diana Rigueur, Kathryn N. Weaver, Kristen Sund, Janet S. Basil, Robert B. Hufnagel, Cynthia A. Prows, Alan Oestreich, Lihadh Al‐Gazali, Robert J Hopkin, Howard M. Saal, Karen Lyons, Andrew Dauber

Get full text

Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease. by Jana Zernant, Winston Lee, Jun Wang, Kerry Goetz, Ehsan Ullah, Takayuki Nagasaki, Pei-Yin Su, Gerald A Fishman, Stephen H Tsang, Santa J Tumminia, Brian P Brooks, Robert B Hufnagel, Rui Chen, Rando Allikmets

Get full text

Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome by Saumil Sethna, Wadih M Zein, Sehar Riaz, Arnaud PJ Giese, Julie M Schultz, Todd Duncan, Robert B Hufnagel, Carmen C Brewer, Andrew J Griffith, T Michael Redmond, Saima Riazuddin, Thomas B Friedman, Zubair M Ahmed

Get full text

Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates by Maximilian Pfau, Catherine A. Cukras, Laryssa A. Huryn, Wadih M. Zein, Ehsan Ullah, Marisa P. Boyle, Amy Turriff, Michelle A. Chen, Aarti S. Hinduja, Hermann E.A. Siebel, Robert B. Hufnagel, Brett G. Jeffrey, Brian P. Brooks

Get full text

A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression by Tien Le, Stephanie Htun, Manoj Kumar Pandey, Manoj Kumar Pandey, Yihui Sun, Yihui Sun, Albert Frank Magnusen, Ehsan Ullah, Julie Lauzon, Shannon Beres, Shannon Beres, Chung Lee, Bin Guan, Robert B. Hufnagel, Brian P. Brooks, Sergio E. Baranzini, Sergio E. Baranzini, Anne Slavotinek, Anne Slavotinek, Anne Slavotinek

Get full text

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. by Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A Marsh, Graeme R Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M Mannens, Veronica Van Heyningen, Joe Rainger, Brian P Brooks, David R FitzPatrick

Get full text

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia by Hildegard Nikki Hall, Hemant Bengani, Robert B. Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A. Marsh, Graeme R. Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M. Mannens, Veronica Van Heyningen, Joe Rainger, Brian P. Brooks, David R. FitzPatrick

Get full text

Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics by Nancy Aguilera, Tao Liu, Andrew J. Bower, Joanne Li, Sarah Abouassali, Rongwen Lu, John Giannini, Maximilian Pfau, Chelsea Bender, Margery G. Smelkinson, Amelia Naik, Bin Guan, Owen Schwartz, Andrei Volkov, Alfredo Dubra, Zhuolin Liu, Daniel X. Hammer, Dragan Maric, Robert Fariss, Robert B. Hufnagel, Brett G. Jeffrey, Brian P. Brooks, Wadih M. Zein, Laryssa A. Huryn, Johnny Tam

Get full text

Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia by Volha V. Malechka, MD, Dat Duong, PhD, Keyla D. Bordonada, MD, Amy Turriff, MS, Delphine Blain, MS, MBA, Elizabeth Murphy, PhD, Wendy J. Introne, MD, Bernadette R. Gochuico, MD, David R. Adams, MD, PhD, Wadih M. Zein, MD, Brian P. Brooks, MD, PhD, Laryssa A. Huryn, MD, Benjamin D. Solomon, MD, Robert B. Hufnagel, MD, PhD

Get full text

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. by Sarah J Garnai, Michelle L Brinkmeier, Ben Emery, Tomas S Aleman, Louise C Pyle, Biliana Veleva-Rotse, Robert A Sisk, Frank W Rozsa, Ayse Bilge Ozel, Jun Z Li, Sayoko E Moroi, Steven M Archer, Cheng-Mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James Eadie, Jill E Urquhart, Graeme C M Black, Mohammad I Othman, Michael Boehnke, Scot A Sullivan, Gregory L Skuta, Hemant S Pawar, Alexander E Katz, Laryssa A Huryn, Robert B Hufnagel, Genomic Ascertainment Cohort, Sally A Camper, Julia E Richards, Lev Prasov

Get full text

The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors by Joshua L. Deignan, Vimla Aggarwal, Allen E. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao, Kristy R. Crooks, Kristen L. Deak, Daniela Del Gaudio, Birgit Funke, Nicole L. Hoppman, Vanessa Horner, Robert B. Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L. Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M. Mikhail, Stephen R. Moore, Rizwan C. Naeem, Laura M. Pollard, Elena A. Repnikova, Lina Shao, Brandon M. Shaw, Shashirekha Shetty, Teresa A. Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H. Vance, Cindy L. Vnencak-Jones, Eli S. Williams

Get full text