Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder von Abrams, Alexander J, Hufnagel, Robert B, Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A, Campeanu, Ion J, Griffin, Laurie B, Groenewald, Saskia, Strickland, Alleene V, Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M, Sund, Kristen L, Wang, Xinjian, Krueger, Laura A, Peng, Yanyan, Prada, Carlos E, Prows, Cynthia A, Schorry, Elizabeth K, Antonellis, Anthony, Zimmerman, Holly H, Abdul-Rahman, Omar A, Yang, Yaping, Downes, Susan M, Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Németh, Andrea H, Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E

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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome von Twigg, Stephen R.F., Hufnagel, Robert B., Miller, Kerry A., Zhou, Yan, McGowan, Simon J., Taylor, John, Craft, Jude, Taylor, Jenny C., Santoro, Stephanie L., Huang, Taosheng, Hopkin, Robert J., Brady, Angela F., Clayton-Smith, Jill, Clericuzio, Carol L., Grange, Dorothy K., Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I. Karen, Dobyns, William B., Curry, Cynthia J., Jones, Marilyn C., Wilkie, Andrew O.M.

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

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Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness von George, Aman, Zand, Dina J., Hufnagel, Robert B., Sharma, Ruchi, Sergeev, Yuri V., Legare, Janet M., Rice, Gregory M., Scott Schwoerer, Jessica A., Rius, Mariana, Tetri, Laura, Gamm, David M., Bharti, Kapil, Brooks, Brian P.

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The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1 von Prada, Carlos E., MD, Hufnagel, Robert B., MD, PhD, Hummel, Trent R., MD, Lovell, Anne M., MSN, CNP, Hopkin, Robert J., MD, Saal, Howard M., MD, Schorry, Elizabeth K., MD

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Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy von Pfister, Tyler A, Zein, Wadih M, Cukras, Catherine A, Sen, Hatice N, Maldonado, Ramiro S, Huryn, Laryssa A, Hufnagel, Robert B

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Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy von Cideciyan, Artur V, Hufnagel, Robert B, Carroll, Joseph, Sumaroka, Alexander, Luo, Xunda, Schwartz, Sharon B, Dubra, Alfredo, Land, Megan, Michaelides, Michel, Gardner, Jessica C, Hardcastle, Alison J, Moore, Anthony T, Sisk, Robert A, Ahmed, Zubair M, Kohl, Susanne, Wissinger, Bernd, Jacobson, Samuel G

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

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

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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2 , in perisylvian polymicrogyria: a next-generation sequencing study von Mirzaa, Ghayda M, Dr, Conti, Valerio, PhD, Timms, Andrew E, PhD, Smyser, Christopher D, MD, Ahmed, Sarah, MD, Carter, Melissa, MD, Barnett, Sarah, MS, Hufnagel, Robert B, MD, Goldstein, Amy, MD, Narumi-Kishimoto, Yoko, MD, Olds, Carissa, MSc, Collins, Sarah, MS, Johnston, Kathreen, MD, Deleuze, Jean-François, PhD, Nitschké, Patrick, PhD, Friend, Kathryn, PhD, Harris, Catharine, MD, Goetsch, Allison, MS, Martin, Beth, BS, Boyle, Evan August, BS, Parrini, Elena, MD, Mei, Davide, MSLT, Tattini, Lorenzo, PhD, Slavotinek, Anne, Prof, Blair, Ed, MRCP, Barnett, Christopher, MBBS, Shendure, Jay, Prof, Chelly, Jamel, Prof, Dobyns, William B, Prof, Guerrini, Renzo, Prof

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Acrofacial dysostosis, Cincinnati type: a mandibulofacial dysostosis syndrome with limb anomalies caused by POLR1A dysfunction von Weaver, K. Nicole, Noack Watt, Kristin E., Hufnagel, Robert B., Acedo, Joaquin Navajas, Linscott, Luke L., Sund, Kristen L., Bender, Patricia L., König, Rainer, Lourenco, Charles M., Hehr, Ute, Hopkin, Robert J., Lohmann, Dietmar R., Trainor, Paul A., Wieczorek, Dagmar, Saal, Howard M.

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

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

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Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia von Gordon, Christopher T., Weaver, K. Nicole, Zechi-Ceide, Roseli Maria, Madsen, Erik C., Tavares, Andre L.P., Oufadem, Myriam, Kurihara, Yukiko, Adameyko, Igor, Picard, Arnaud, Breton, Sylvain, Pierrot, Sébastien, Biosse-Duplan, Martin, Voisin, Norine, Masson, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Delrue, Marie-Ange, Lacombe, Didier, Guion-Almeida, Maria Leine, Moura, Priscila Padilha, Garib, Daniela Gamba, Munnich, Arnold, Ernfors, Patrik, Hufnagel, Robert B., Hopkin, Robert J., Kurihara, Hiroki, Saal, Howard M., Weaver, David D., Katsanis, Nicholas, Lyonnet, Stanislas, Golzio, Christelle, Clouthier, David E., Amiel, Jeanne

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Using human sequencing to guide craniofacial research von Liegel, Ryan P., Finnerty, Erin, Blizzard, Lauren, DiStasio, Andrew, Hufnagel, Robert B., Saal, Howard M., Sund, Kristen L., Prows, Cynthia A., Stottmann, Rolf W.

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AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration von Miyagishima, Kiyoharu J., Sharma, Ruchi, Nimmagadda, Malika, Clore-Gronenborn, Katharina, Qureshy, Zoya, Ortolan, Davide, Bose, Devika, Farnoodian, Mitra, Zhang, Congxiao, Fausey, Andrew, Sergeev, Yuri V., Abu-Asab, Mones, Jun, Bokkyoo, Do, Khanh V., Kautzman Guerin, Marie-Audrey, Calandria, Jorgelina, George, Aman, Guan, Bin, Wan, Qin, Sharp, Rachel C., Cukras, Catherine, Sieving, Paul A., Hufnagel, Robert B., Bazan, Nicolas G., Boesze-Battaglia, Kathleen, Miller, Sheldon, Bharti, Kapil

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Persistent Dark Cones in Oligocone Trichromacy Revealed by Multimodal Adaptive Optics Ophthalmoscopy von Li, Joanne, Liu, Tao, Flynn, Oliver J, Turriff, Amy, Liu, Zhuolin, Ullah, Ehsan, Liu, Jianfei, Dubra, Alfredo, Johnson, Mary A, Brooks, Brian P, Hufnagel, Robert B, Hammer, Daniel X, Huryn, Laryssa A, Jeffrey, Brett G, Tam, Johnny

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A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia von Hufnagel, Sophia B., Weaver, K Nicole, Hufnagel, Robert B., Bader, Patricia I., Schorry, Elizabeth K., Hopkin, Robert J.

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Sensitive extraction-free SARS-CoV-2 RNA virus detection using a chelating resin von Guan, Bin, Frank, Karen M., Maldonado, José O., Beach, Margaret, Pelayo, Eileen, Warner, Blake M., Hufnagel, Robert B.

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

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