Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease von Payne, Felicity, Lim, Koini, Girousse, Amandine, Brown, Rebecca J., Kory, Nora, Robbins, Ann, Xue, Yali, Sleigh, Alison, Cochran, Elaine, Adams, Claire, Borman, Arundhati Dev, Russel-Jones, David, Gorden, Phillip, Semple, Robert K., Saudek, Vladimir, O'Rahilly, Stephen, Walther, Tobias C., Barroso, Inês, Savage, David B.

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Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT‐related mitochondrial disease von Howard, Caoimhe, Dev‐Borman, Arundhati, Stokes, John, O'Rourke, Declan, Gillespie, Ciara, Twomey, Eilish, Knerr, Ina, Boruah, Ritma

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NMNAT1 mutations cause Leber congenital amaurosis von Falk, Marni J, Zhang, Qi, Nakamaru-Ogiso, Eiko, Kannabiran, Chitra, Fonseca-Kelly, Zoe, Chakarova, Christina, Audo, Isabelle, Mackay, Donna S, Zeitz, Christina, Borman, Arundhati Dev, Staniszewska, Magdalena, Shukla, Rachna, Palavalli, Lakshmi, Mohand-Said, Saddek, Waseem, Naushin H, Jalali, Subhadra, Perin, Juan C, Place, Emily, Ostrovsky, Julian, Xiao, Rui, Bhattacharya, Shomi S, Consugar, Mark, Webster, Andrew R, Sahel, José-Alain, Moore, Anthony T, Berson, Eliot L, Liu, Qin, Gai, Xiaowu, Pierce, Eric A

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Benign Yellow Dot Maculopathy: A New Macular Phenotype von Dev Borman, Arundhati, Rachitskaya, Aleksandra, Suzani, Martina, Sisk, Robert A, Ahmed, Zubair M, Holder, Graham E, Cipriani, Valentina, Arno, Gavin, Webster, Andrew R, Hufnagel, Robert B, Berrocal, Audina, Moore, Anthony T

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Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study von Dev Borman, Arundhati, Ocaka, Louise A, Mackay, Donna S, Ripamonti, Caterina, Henderson, Robert H, Moradi, Phillip, Hall, Georgina, Black, Graeme C, Robson, Anthony G, Holder, Graham E, Webster, Andrew R, Fitzke, Fred, Stockman, Andrew, Moore, Anthony T

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RDH12 retinopathy: novel mutations and phenotypic description von Mackay, Donna S, Dev Borman, Arundhati, Moradi, Phillip, Henderson, Robert H, Li, Zheng, Wright, Genevieve A, Waseem, Naushin, Gandra, Mamatha, Thompson, Dorothy A, Bhattacharya, Shomi S, Holder, Graham E, Webster, Andrew R, Moore, Anthony T

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Benign Yellow Dot Maculopathy von Dev Borman, Arundhati, MD(Res), FRCOphth, Rachitskaya, Aleksandra, MD, Suzani, Martina, MD, Sisk, Robert A., MD, FACS, Ahmed, Zubair M., PhD, Holder, Graham E., PhD, Cipriani, Valentina, PhD, Arno, Gavin, PhD, Webster, Andrew R., MD(Res), FRCOphth, Hufnagel, Robert B., MD, PhD, Berrocal, Audina, MD, Moore, Anthony T., FRCOphth, FMedSci

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Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy von Tan, Mei Hong, Mackay, Donna S, Cowing, Jill, Tran, Hoai Viet, Smith, Alexander J, Wright, Genevieve A, Dev-Borman, Arundhati, Henderson, Robert H, Moradi, Phillip, Russell-Eggitt, Isabelle, MacLaren, Robert E, Robson, Anthony G, Cheetham, Michael E, Thompson, Dorothy A, Webster, Andrew R, Michaelides, Michel, Ali, Robin R, Moore, Anthony T

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Nonaccidental injury presenting as unilateral retinal detachment in two infants von Sornalingam, Krishanthy, Borman, Arundhati Dev, Ashworth, Jane

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Childhood-Onset Autosomal Recessive Bestrophinopathy von BORMAN, Arundhati Dev, DAVIDSON, Alice E, MANSON, Forbes D. C, MOORE, Anthony T, O'SULLIVAN, James, THOMPSON, Dorothy A, ROBSON, Anthony G, DE BAERE, Elfride, BLACK, Graeme C. M, WEBSTER, Andrew R, HOLDER, Graham E, LEROY, Bart P

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Renal cell carcinoma with an unusual presentation von West, Hilary, Wilson, Noel, Shrotri, Nitin, Dev Borman, Arundhati, Mukherjee, Arijit

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Clinical and Molecular Characterization of Enhanced S-Cone Syndrome in Children von Hull, Sarah, Arno, Gavin, Sergouniotis, Panagiotis I, Tiffin, Peter, Borman, Arundhati Dev, Chandra, Aman, Robson, Anthony G, Holder, Graham E, Webster, Andrew R, Moore, Anthony T

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A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity von Borman, Arundhati Dev, Pearce, Laura R., Mackay, Donna S., Nagel-Wolfrum, Kerstin, Davidson, Alice E., Henderson, Robert, Garg, Sumedha, Waseem, Naushin H., Webster, Andrew R., Plagnol, Vincent, Wolfrum, Uwe, Farooqi, I. Sadaf, Moore, Anthony T.

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Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1 von Arno, Gavin, Hull, Sarah, Carss, Keren, Dev-Borman, Arundhati, Chakarova, Christina, Bujakowska, Kinga, van den Born, L Ingeborgh, Robson, Anthony G, Holder, Graham E, Michaelides, Michel, Cremers, Frans P M, Pierce, Eric, Raymond, F Lucy, Moore, Anthony T, Webster, Andrew R

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Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations von Mackay, Donna S, Ocaka, Louise A, Borman, Arundhati Dev, Sergouniotis, Panagiotis I, Henderson, Robert H, Moradi, Phillip, Robson, Anthony G, Thompson, Dorothy A, Webster, Andrew R, Moore, Anthony T

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Expansion of Ocular Phenotypic Features Associated With Mutations in ADAMTS18 von Chandra, Aman, Arno, Gavin, Williamson, Kathleen, Sergouniotis, Panagiotis I, Preising, Markus N, Charteris, David G, Thompson, Dorothy A, Holder, Graham E, Borman, Arundhati Dev, Davagnanam, Indran, Webster, Andrew R, Lorenz, Birgit, FitzPatrick, David R, Moore, Anthony T

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Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations von Mackay, Donna S., Borman, Arundhati Dev, Sui, Ruifang, van den Born, L. Ingeborgh, Berson, Eliot L., Ocaka, Louise A., Davidson, Alice E., Heckenlively, John R., Branham, Kari, Ren, Huanan, Lopez, Irma, Maria, Maleeha, Azam, Maleeha, Henkes, Arjen, Blokland, Ellen, Andreasson, Sten, de Baere, Elfride, Bennett, Jean, Chader, Gerald J., Berger, Wolfgang, Golovleva, Irina, Greenberg, Jacquie, den Hollander, Anneke I., Klaver, Caroline C.W., Klevering, B. Jeroen, Lorenz, Birgit, Preising, Markus N., Ramesar, Raj, Roberts, Lisa, Roepman, Ronald, Rohrschneider, Klaus, Wissinger], Bernd, Qamar, Raheel, Webster, Andrew R., Cremers, Frans P.M., Moore, Anthony T., Koenekoop, Robert K.

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A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls von Sergouniotis, Panagiotis I, Li, Zheng, Mackay, Donna S, Wright, Genevieve A, Borman, Arundhati Dev, Devery, Sophie R, Moore, Anthony T, Webster, Andrew R

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Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations von Mackay, Donna S., Borman, Arundhati Dev, Sui, Ruifang, van den Born, L. Ingeborgh, Berson, Eliot L., Ocaka, Louise A., Davidson, Alice E., Heckenlively, John R., Branham, Kari, Ren, Huanan, Lopez, Irma, Maria, Maleeha, Azam, Maleeha, Henkes, Arjen, Blokland, Ellen, Andreasson, [Sten, de Baere, Elfride, Bennett, Jean, Chader, Gerald J., Berger, Wolfgang, Golovleva, Irina, Greenberg, Jacquie, den Hollander, Anneke I., Klaver, Caroline C.W., Klevering, B. Jeroen, Lorenz, Birgit, Preising, Markus N., Ramesar, Raj, Roberts, Lisa, Roepman, Ronald, Rohrschneider, Klaus, Wissinger], Bernd, Qamar, Raheel, Webster, Andrew R., Cremers, Frans P.M., Moore, Anthony T., Koenekoop, Robert K.

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NMNAT1 Mutations Cause Leber Congenital Amaurosis von Falk, Marni J, Nakamaru-Ogiso, Eiko, Kannabiran, Chitra, Chakarova, Christina, Audo, Isabelle, Mackay, Donna S, Zeitz, Christina, Borman, Arundhati Dev, Shukla, Rachna, Palavalli, Lakshmi, Mohand-Said, Saddek, Waseem, Naushin H, Jalali, Subhadra, Perin, Juan C, Ostrovsky, Julian, Xiao, Rui, Bhattacharya, Shomi S, Webster, Andrew R, Sahel, José-Alain, Moore, Anthony T, Gai, Xiaowu, Zhang, Qi, Kelly, Zoe, Staniszewska, Magdalena, Place, Emily Margaret, Consugar, Mark Bryant, Berson, Eliot Lawrence, Liu, Qin, Pierce, Eric Adam

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