New macular findings in individuals with biallelic KLHL7 gene mutation

por Heng, Ling Zhi, Kennedy, Joanna, Smithson, Sarah, Newbury-Ecob, Ruth, Churchill, Amanda
Publicado 2019

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

por Henderson, Robert H., Williamson, Kathleen A., Kennedy, Joanna S., Webster, Andrew R., Holder, Graham E., Robson, Anthony G., FitzPatrick, David R., van Heyningen, Veronica, Moore, Anthony T.
Publicado 2009

A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder

por Ammous, Zineb, Rawlins, Lettie E., Jones, Hannah, Leslie, Joseph S., Wenger, Olivia, Scott, Ethan, Deline, Jim, Herr, Tom, Evans, Rebecca, Scheid, Angela, Kennedy, Joanna, Chioza, Barry A., Ames, Ryan M., Cross, Harold E., Puffenberger, Erik G., Harries, Lorna, Baple, Emma L., Crosby, Andrew H.
Publicado 2021

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

por Tábara, Luis Carlos, Al-Salmi, Fatema, Maroofian, Reza, Al-Futaisi, Amna Mohammed, Al-Murshedi, Fathiya, Kennedy, Joanna, Day, Jacob O, Courtin, Thomas, Al-Khayat, Aisha, Galedari, Hamid, Mazaheri, Neda, Protasoni, Margherita, Johnson, Mark, Leslie, Joseph S, Salter, Claire G, Rawlins, Lettie E, Fasham, James, Al-Maawali, Almundher, Voutsina, Nikol, Charles, Perrine, Harrold, Laura, Keren, Boris, Kunji, Edmund R S, Vona, Barbara, Jelodar, Gholamreza, Sedaghat, Alireza, Shariati, Gholamreza, Houlden, Henry, Crosby, Andrew H, Prudent, Julien, Baple, Emma L
Publicado 2022