TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton

por Burren, Christine P., Caswell, Richard, Castle, Bruce, Welch, C. Ross, Hilliard, Tom N., Smithson, Sarah F., Ellard, Sian
Publicado 2018

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss

por Richards, Allan J, Fincham, Gregory S, McNinch, Annie, Hill, David, Poulson, Arabella V, Castle, Bruce, Lees, Melissa M, Moore, Anthony T, Scott, John D, Snead, Martin P
Publicado 2013

ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones

por Plomp, Astrid S., Florijn, Ralph J., ten Brink, Jacoline, Castle, Bruce, Kingston, Helen, Martín-Santiago, Ana, Gorgels, Theo G.M.F., de Jong, Paulus T.V.M., Bergen, Arthur A.B.
Publicado 2008

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

por Szymanska, Katarzyna, Berry, Ian, Logan, Clare V, Cousins, Simon RR, Lindsay, Helen, Jafri, Hussain, Raashid, Yasmin, Malik-Sharif, Saghira, Castle, Bruce, Ahmed, Mushtag, Bennett, Chris, Carlton, Ruth, Johnson, Colin A
Publicado 2012

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

por Williamson, Kathleen A., Hall, H. Nikki, Owen, Liusaidh J., Livesey, Benjamin J., Hanson, Isabel M., Adams, G. G. W., Bodek, Simon, Calvas, Patrick, Castle, Bruce, Clarke, Michael, Deng, Alexander T., Edery, Patrick, Fisher, Richard, Gillessen-Kaesbach, Gabriele, Heon, Elise, Hurst, Jane, Josifova, Dragana, Lorenz, Birgit, McKee, Shane, Meire, Francoise, Moore, Anthony T., Parker, Michael, Reiff, Charlotte M., Self, Jay, Tobias, Edward S., Verheij, Joke B. G. M., Willems, Marjolaine, Williams, Denise, van Heyningen, Veronica, Marsh, Joseph A., FitzPatrick, David R.
Publicado 2019

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

por Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E., Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury‐Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L., Ellard, Sian
Publicado 2017