The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience by Molina‐Ramírez, Leslie P., Burkitt‐Wright, Emma MM, Saeed, Haroon, McDermott, John H., Kyle, Claire, Wright, Ronnie, Campbell, Christopher, Bhaskar, Sanjeev S., Taylor, Algy, Dutton, Laura, Forde, Claire, Metcalfe, Kay, Smith, Audrey, Clayton‐Smith, Jill, Douzgou, Sofia, Chandler, Kate, Briggs, Tracy A., Banka, Siddharth, Newman, William G., Gokhale, David, Bruce, Iain A., Black, Graeme C.

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Perceived fatigue in children and young adults with neurofibromatosis type 1 by Vassallo, Grace, Mughal, Zulf, Robinson, Louise, Weisberg, Daniel, Roberts, Stephen A, Hupton, Eileen, Eelloo, Judith, Burkitt Wright, Emma MM, Garg, Shruti, Lewis, Lauren, Evans, D Gareth, Stivaros, Stavros M

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ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components by Rohrbach, Marianne, Spencer, Helen L., Porter, Louise F., Burkitt-Wright, Emma M.M., Bürer, Céline, Janecke, Andreas, Bakshi, Madhura, Sillence, David, Al-Hussain, Hailah, Baumgartner, Matthias, Steinmann, Beat, Black, Graeme C.M., Manson, Forbes D.C., Giunta, Cecilia

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Brittle cornea syndrome: recognition, molecular diagnosis and management by Burkitt Wright, Emma M M, Porter, Louise F, Spencer, Helen L, Clayton-Smith, Jill, Au, Leon, Munier, Francis L, Smithson, Sarah, Suri, Mohnish, Rohrbach, Marianne, Manson, Forbes D C, Black, Graeme C M

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Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val by Burkitt-Wright, Emma M.M., Bradley, Lisa, Shorto, Jennifer, McConnell, Vivienne P.M., Gannon, Caroline, Firth, Helen V., Park, Soo-Mi, D'Amore, Angela, Munyard, Paul F., Turnpenny, Peter D., Charlton, Amanda, Wilson, Meredith, Kerr, Bronwyn

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance by BURKITT WRIGHT, Emma M. M, SPENCER, Helen L, MADDEN, Colm, DODDS, Annabel, CHANDLER, Kate E, BANKA, Siddharth, AU, Leon, CLAYTON-SMITH, Jill, KHAN, Naz, BIESECKER, Leslie G, WILSON, Meredith, ROHRBACH, Marianne, DALY, Sarah B, COLOMBI, Marina, GIUNTA, Cecilia, BLACK, Graeme C. M, MANSON, Forbes D. C, ZEEF, Leo A. H, URQUHART, Jill, ZOPPI, Nicoletta, BONSHEK, Richard, TOSOUNIDIS, Ioannis, MOHAN, Meyyammai

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Pierpont syndrome: A collaborative study by Wright, Emma M.M. Burkitt, Suri, Mohnish, White, Susan M., de Leeuw, Nicole, Silfhout, Anneke T. Vulto‐van, Stewart, Fiona, McKee, Shane, Mansour, Sahar, Connell, Fiona C, Chopra, Maya, Kirk, Edwin P., Devriendt, Koen, Reardon, Willie, Brunner, Han, Donnai, Dian

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