Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families

por Muhammad Dawood, Siying Lin, Taj Ud Din, Irfan Ullah Shah, Niamat Khan, Abid Jan, Muhammad Marwan, Komal Sultan, Maha Nowshid, Raheel Tahir, Asif Naveed Ahmed, Muhammad Yasin, Emma L. Baple, Andrew H. Crosby, Shamim Saleha
Publicado 2021

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

por Luke O’Gorman, Chelsea S. Norman, Luke Michaels, Tutte Newall, Andrew H. Crosby, Christopher Mattocks, Angela J. Cree, Andrew J. Lotery, Emma L. Baple, J. Arjuna Ratnayaka, Diana Baralle, Helena Lee, Daniel Osborne, Fatima Shawkat, Jane Gibson, Sarah Ennis, Jay E. Self
Publicado 2019

A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.

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