Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system

Por Ricotti, Valeria, Jägle, Herbert, Theodorou, Maria, Moore, Anthony T, Muntoni, Francesco, Thompson, Dorothy A
Publicado no Eur J Hum Genet (2016)

Unilateral BEST1-Associated Retinopathy

Por Arora, Rashi, Khan, Kamron, Kasilian, Melissa L., Strauss, Rupert W., Holder, Graham E., Robson, Anthony G., Thompson, Dorothy A., Moore, Anthony T., Michaelides, Michel
Publicado no Am J Ophthalmol (2016)

RDH12 retinopathy: novel mutations and phenotypic description

Por 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.
Publicado em 2011

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

Por Thompson, Dorothy A, Feather, Sally, Stanescu, Horia C, Freudenthal, Bernard, Zdebik, Anselm A, Warth, Richard, Ognjanovic, Milos, Hulton, Sally A, Wassmer, Evangeline, van't Hoff, William, Russell-Eggitt, Isabelle, Dobbie, Angus, Sheridan, Eamonn, Kleta, Robert, Bockenhauer, Detlef
Publicado em 2011

Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

Por 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.
Publicado em 2012

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

Por Webb, Emma A., AlMutair, Angham, Kelberman, Daniel, Bacchelli, Chiara, Chanudet, Estelle, Lescai, Francesco, Andoniadou, Cynthia L., Banyan, Abdul, Alsawaid, Al, Alrifai, Muhammad T., Alahmesh, Mohammed A., Balwi, M., Mousavy-Gharavy, Seyedeh N., Lukovic, Biljana, Burke, Derek, McCabe, Mark J., Kasia, Tessa, Kleta, Robert, Stupka, Elia, Beales, Philip L., Thompson, Dorothy A., Chong, W. Kling, Alkuraya, Fowzan S., Martinez-Barbera, Juan-Pedro, Sowden, Jane C., Dattani, Mehul T.
Publicado em 2013

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Por Carss, Keren J., Arno, Gavin, Erwood, Marie, Stephens, Jonathan, Sanchis-Juan, Alba, Hull, Sarah, Megy, Karyn, Grozeva, Detelina, Dewhurst, Eleanor, Malka, Samantha, Plagnol, Vincent, Penkett, Christopher, Stirrups, Kathleen, Rizzo, Roberta, Wright, Genevieve, Josifova, Dragana, Bitner-Glindzicz, Maria, Scott, Richard H., Clement, Emma, Allen, Louise, Armstrong, Ruth, Brady, Angela F., Carmichael, Jenny, Chitre, Manali, Henderson, Robert H.H., Hurst, Jane, MacLaren, Robert E., Murphy, Elaine, Paterson, Joan, Rosser, Elisabeth, Thompson, Dorothy A., Wakeling, Emma, Ouwehand, Willem H., Michaelides, Michel, Moore, Anthony T., Webster, Andrew R., Raymond, F. Lucy
Publicado no Am J Hum Genet (2017)