Congenital Unilateral Corneal Anaesthesia with Microphthalmos: A Case Report

por Voyatzis, George, Mukherjee, Achyut, Rajan, Madhavan S., Allen, Louise E.
Publicado em 2012

The infrared reflex: a potential new method for congenital cataract screening

por Duret, Amedine, Humphries, Robert, Ramanujam, Sushmita, te Water Naudé, Anna, Reid, Conor, Allen, Louise E.
Publicado no Eye (Lond) (2019)

A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report

por Norgett, Elizabeth E., Yii, Anthony, Blake-Palmer, Katherine G., Sharifian, Mostafa, Allen, Louise E., Najafi, Abdolhamid, Kariminejad, Ariana, Frankl, Fiona E. Karet
Publicado no BMC Med Genet (2015)

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

por Rodger, Catherine, Flex, Elisabetta, Allison, Rachel J., Sanchis-Juan, Alba, Hasenahuer, Marcia A., Cecchetti, Serena, French, Courtney E., Edgar, James R., Carpentieri, Giovanna, Ciolfi, Andrea, Pantaleoni, Francesca, Bruselles, Alessandro, Onesimo, Roberta, Zampino, Giuseppe, Marcon, Francesca, Siniscalchi, Ester, Lees, Melissa, Krishnakumar, Deepa, McCann, Emma, Yosifova, Dragana, Jarvis, Joanna, Kruer, Michael C., Marks, Warren, Campbell, Jonathan, Allen, Louise E., Gustincich, Stefano, Raymond, F. Lucy, Tartaglia, Marco, Reid, Evan
Publicado no Am J Hum Genet (2020)