Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease

nork Woods, C. Geoffrey, Cox, James, Springell, Kelly, Hampshire, Daniel J., Mohamed, Moin D., McKibbin, Martin, Stern, Rowena, Raymond, F. Lucy, Sandford, Richard, Malik Sharif, Saghira, Karbani, Gulshan, Ahmed, Mustaq, Bond, Jacquelyn, Clayton, David, Inglehearn, Chris F.
Argitaratua 2006

Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia

nork Abdollahi, Mohammad R., Morrison, Ewan, Sirey, Tamara, Molnar, Zoltan, Hayward, Bruce E., Carr, Ian M., Springell, Kelly, Woods, C. Geoff, Ahmed, Mushtaq, Hattingh, Louise, Corry, Peter, Pilz, Daniela T., Stoodley, Neil, Crow, Yanick, Taylor, Graham R., Bonthron, David T., Sheridan, Eamonn
Argitaratua 2009

Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size

nork Bond, Jacquelyn, Scott, Sheila, Hampshire, Daniel J., Springell, Kelly, Corry, Peter, Abramowicz, Marc J., Mochida, Ganesh H., Hennekam, Raoul C. M., Maher, Eamonn R., Fryns, Jean-Pierre, Alswaid, Abdulrahman, Jafri, Hussain, Rashid, Yasmin, Mubaidin, Ammar, Walsh, Christopher A., Roberts, Emma, Woods, C. Geoffrey
Argitaratua 2003

An SCN9A channelopathy causes congenital inability to experience pain

nork Cox, James J., Reimann, Frank, Nicholas, Adeline K., Thornton, Gemma, Roberts, Emma, Springell, Kelly, Karbani, Gulshan, Jafri, Hussain, Mannan, Jovaria, Raashid, Yasmin, Al-Gazali, Lihadh, Hamamy, Henan, Valente, Enza Maria, Gorman, Shaun, Williams, Richard, McHale, Duncan P., Wood, John N., Gribble, Fiona M., Woods, C. Geoffrey
Argitaratua izan da Nature (2006)

The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

nork Bakircioglu, Mehmet, Carvalho, Ofélia P., Khurshid, Maryam, Cox, James J., Tuysuz, Beyhan, Barak, Tanyeri, Yilmaz, Saliha, Caglayan, Okay, Dincer, Alp, Nicholas, Adeline K., Quarrell, Oliver, Springell, Kelly, Karbani, Gulshan, Malik, Saghira, Gannon, Caroline, Sheridan, Eamonn, Crosier, Moira, Lisgo, Steve N., Lindsay, Susan, Bilguvar, Kaya, Gergely, Fanni, Gunel, Murat, Woods, C. Geoffrey
Argitaratua 2011

Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

nork Parry, David A., Toomes, Carmel, Bida, Lina, Danciger, Michael, Towns, Katherine V., McKibbin, Martin, Jacobson, Samuel G., Logan, Clare V., Ali, Manir, Bond, Jacquelyn, Chance, Rebecca, Swendeman, Steven, Daniele, Lauren L., Springell, Kelly, Adams, Matthew, Johnson, Colin A., Booth, Adam P., Jafri, Hussain, Rashid, Yasmin, Banin, Eyal, Strom, Tim M., Farber, Debora B., Sharon, Dror, Blobel, Carl P., Pugh, Edward N., Pierce, Eric A., Inglehearn, Chris F.
Argitaratua 2009