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

Yazar: Burren, Christine P., Caswell, Richard, Castle, Bruce, Welch, C. Ross, Hilliard, Tom N., Smithson, Sarah F., Ellard, Sian
Yayımlandı Am J Med Genet A (2018)

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

Yazar: 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
Baskı/Yayın Bilgisi 2013

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

Yazar: 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.
Baskı/Yayın Bilgisi 2008

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

Yazar: 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
Baskı/Yayın Bilgisi 2012

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

Yazar: Turner, Claire Louise Susan, Mackay, Deborah M, Callaway, Jonathan L A, Docherty, Louise E, Poole, Rebecca L, Bullman, Hilary, Lever, Margaret, Castle, Bruce M, Kivuva, Emma C, Turnpenny, Peter D, Mehta, Sarju G, Mansour, Sahar, Wakeling, Emma L, Mathew, Verghese, Madden, Jackie, Davies, Justin H, Temple, I Karen
Baskı/Yayın Bilgisi 2010

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

Yazar: 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.
Yayımlandı Genet Med (2019)

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

Yazar: 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
Yayımlandı Prenat Diagn (2017)

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Yazar: Banka, Siddharth, Veeramachaneni, Ratna, Reardon, William, Howard, Emma, Bunstone, Sancha, Ragge, Nicola, Parker, Michael J, Crow, Yanick J, Kerr, Bronwyn, Kingston, Helen, Metcalfe, Kay, Chandler, Kate, Magee, Alex, Stewart, Fiona, McConnell, Vivienne P M, Donnelly, Deirdre E, Berland, Siren, Houge, Gunnar, Morton, Jenny E, Oley, Christine, Revencu, Nicole, Park, Soo-Mi, Davies, Sally J, Fry, Andrew E, Lynch, Sally Ann, Gill, Harinder, Schweiger, Susann, Lam, Wayne W K, Tolmie, John, Mohammed, Shehla N, Hobson, Emma, Smith, Audrey, Blyth, Moira, Bennett, Christopher, Vasudevan, Pradeep C, García-Miñaúr, Sixto, Henderson, Alex, Goodship, Judith, Wright, Michael J, Fisher, Richard, Gibbons, Richard, Price, Susan M, C de Silva, Deepthi, Temple, I Karen, Collins, Amanda L, Lachlan, Katherine, Elmslie, Frances, McEntagart, Meriel, Castle, Bruce, Clayton-Smith, Jill, Black, Graeme C, Donnai, Dian
Baskı/Yayın Bilgisi 2012