Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy

por Mahroo, Omar A., Arno, Gavin, Ba-Abbad, Rola, Downes, Susan M., Bird, Alan, Webster, Andrew R.
Publicado 2020

Clinical characteristics of early retinal disease due to CDHR1 mutation

por Ba-Abbad, Rola, Sergouniotis, Panagiotis I., Plagnol, Vincent, Robson, Anthony G., Michaelides, Michel, Holder, Graham E., Webster, Andrew R.
Publicado 2013

Isolated rod dysfunction associated with a novel genotype of CNGB1

por Ba-Abbad, Rola, Holder, Graham E., Robson, Anthony G., Neveu, Magella M., Waseem, Naushin, Arno, Gavin, Webster, Andrew R.
Publicado 2019

A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy

por Ba-Abbad, Rola, Robson, Anthony G., Mahroo, Omar A., Wright, Genevieve, Schiff, Elena, Duignan, Emma S., Michaelides, Michel, Arno, Gavin, Webster, Andrew R.
Publicado 2020

Retinal Architecture in ​RGS9- and ​R9AP-Associated Retinal Dysfunction (Bradyopsia)

por Strauss, Rupert W., Dubis, Adam M., Cooper, Robert F., Ba-Abbad, Rola, Moore, Anthony T., Webster, Andrew R., Dubra, Alfredo, Carroll, Joseph, Michaelides, Michel
Publicado 2015

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

por Ba-Abbad, Rola, Leys, Monique, Wang, Xinjing, Chakarova, Christina, Waseem, Naushin, Carss, Keren J., Raymond, F. Lucy, Bujakowska, Kinga M., Pierce, Eric A., Mahroo, Omar A., Mohamed, Moin D., Holder, Graham E., Hummel, Marybeth, Arno, Gavin, Webster, Andrew R.
Publicado 2018

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

por Pontikos, Nikolas, Arno, Gavin, Jurkute, Neringa, Schiff, Elena, Ba-Abbad, Rola, Malka, Samantha, Gimenez, Ainoa, Georgiou, Michalis, Wright, Genevieve, Armengol, Monica, Knight, Hannah, Katz, Menachem, Moosajee, Mariya, Yu-Wai-Man, Patrick, Moore, Anthony T., Michaelides, Michel, Webster, Andrew R., Mahroo, Omar A.
Publicado 2020

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy

por Bertrand, Renae Elaine, Wang, Jun, Xiong, Kaitlyn H., Thangavel, Chinthana, Qian, Xinye, Ba-Abbad, Rola, Liang, Qingnan, Simões, Renata T., Sampaio, Shirley A. M., Carss, Keren J., Raymond, F. Lucy, Robson, Anthony G., Webster, Andrew R., Arno, Gavin, Porto, Fernanda Belga Ottoni, Chen, Rui
Publicado 2020

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis

por Schiff, Elena R., Daich Varela, Malena, Robson, Anthony G., Pierpoint, Karen, Ba‐Abbad, Rola, Nutan, Savita, Zein, Wadih M., Ullah, Ehsan, Huryn, Laryssa A., Tuupanen, Sari, Mahroo, Omar A., Michaelides, Michel, Burke, Derek, Harvey, Katie, Arno, Gavin, Hufnagel, Robert B., Webster, Andrew R.
Publicado 2020

Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy

por Tanner, Alexander, Chan, Hwei Wuen, Pulido, Jose S., Arno, Gavin, Ba-Abbad, Rola, Jurkute, Neringa, Robson, Anthony G., Egan, Catherine A., Knight, Hannah, Calcagni, Antonio, Taylor, Rachel L., Lenassi, Eva, Black, Graeme C., Moore, Anthony T., Michaelides, Michel, Webster, Andrew R., Mahroo, Omar A.
Publicado 2021

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

por Sangermano, Riccardo, Deitch, Iris, Peter, Virginie G., Ba-Abbad, Rola, Place, Emily M., Zampaglione, Erin, Wagner, Naomi E., Fulton, Anne B., Coutinho-Santos, Luisa, Rosin, Boris, Dunet, Vincent, AlTalbishi, Ala’a, Banin, Eyal, Sousa, Ana Berta, Neves, Mariana, Larson, Anna, Quinodoz, Mathieu, Michaelides, Michel, Ben-Yosef, Tamar, Pierce, Eric A., Rivolta, Carlo, Webster, Andrew R., Arno, Gavin, Sharon, Dror, Huckfeldt, Rachel M., Bujakowska, Kinga M.
Publicado 2021

CNGB1‐related rod‐cone dystrophy: A mutation review and update

por Nassisi, Marco, Smirnov, Vasily M., Solis Hernandez, Cyntia, Mohand‐Saïd, Saddek, Condroyer, Christel, Antonio, Aline, Kühlewein, Laura, Kempf, Melanie, Kohl, Susanne, Wissinger, Bernd, Nasser, Fadi, Ragi, Sara D., Wang, Nan‐Kai, Sparrow, Janet R., Greenstein, Vivienne C., Michalakis, Stylianos, Mahroo, Omar A., Ba‐Abbad, Rola, Michaelides, Michel, Webster, Andrew R., Degli Esposti, Simona, Saffren, Brooke, Capasso, Jenina, Levin, Alex, Hauswirth, William W., Dhaenens, Claire‐Marie, Defoort‐Dhellemmes, Sabine, Tsang, Stephen H., Zrenner, Eberhart, Sahel, Jose‐Alain, Petersen‐Jones, Simon M., Zeitz, Christina, Audo, Isabelle
Publicado 2021