Monica Armengol

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

Nikolas Pontikos, Gavin Arno, Neringa Jurkutė et al. · Ophthalmology · 2020 · 258 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A clinical and molecular characterisation of CRB1-associated maculopathy

Kamron N. Khan, Anthony G. Robson, Omar A. Mahroo et al. · European Journal of Human Genetics · 2018 · 71 citations · Full text

Medicine, Molecular Genetics, Ophthalmology +17

Autosomal Recessive Bestrophinopathy

Giuseppe Casalino, Kamron N. Khan, Monica Armengol et al. · Ophthalmology · 2020 · 51 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Missense variants in the X-linked gene<i>PRPS1</i>cause retinal degeneration in females

Alessia Fiorentino, Kaoru Fujinami, Gavin Arno et al. · Human Mutation · 2017 · 30 citations

Life Sciences, Genetics, Molecular Genetics +17