Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway
Garg, Shruti, Brooks, Ami, Burns, Amy, Burkitt‐Wright, Emma, Kerr, Bronwyn, Huson, Susan, Emsley, Richard, Green, Jonathan
Published in Developmental medicine and child neurology (01.05.2017)
Published in Developmental medicine and child neurology (01.05.2017)
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Journal Article
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline
Giannoulatou, Eleni, McVean, Gilean, Taylor, Indira B., McGowan, Simon J., Maher, Geoffrey J., Iqbal, Zamin, Pfeifer, Susanne P., Turner, Isaac, Wright, Emma M. M. Burkitt, Shorto, Jennifer, Itani, Aysha, Turner, Karen, Gregory, Lorna, Buck, David, Meyts, Ewa Rajpert-De, Looijenga, Leendert H. J., Kerr, Bronwyn, Wilkie, Andrew O. M., Goriely, Anne
Published in Proceedings of the National Academy of Sciences - PNAS (10.12.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (10.12.2013)
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Journal Article
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders
Molina-Ramírez, Leslie Patricia, Kyle, Claire, Ellingford, Jamie M, Wright, Ronnie, Taylor, Algy, Bhaskar, Sanjeev S, Campbell, Christopher, Jackson, Harriet, Fairclough, Adele, Rousseau, Abigail, Burghel, George J, Dutton, Laura, Banka, Siddharth, Briggs, Tracy A, Clayton-Smith, Jill, Douzgou, Sofia, Jones, Elizabeth A, Kingston, Helen M, Kerr, Bronwyn, Ealing, John, Somarathi, Suresh, Chandler, Kate E, Stuart, Helen M, Burkitt-Wright, Emma MM, Newman, William G, Bruce, Iain A, Black, Graeme C, Gokhale, David
Published in Journal of medical genetics (01.04.2022)
Published in Journal of medical genetics (01.04.2022)
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Journal Article
Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019
Collins‐Sawaragi, Yoshua Colyn, Ferner, Rosalie, Vassallo, Grace, De Agrò, Germana, Eccles, Simon, Cadwgan, Jill, Hargrave, Darren, Hupton, Eileen, Eelloo, Judith, Lunt, Lauren, Tang, Vivian, Burkitt Wright, Emma, Lascelles, Karine
Published in American journal of medical genetics. Part A (01.06.2022)
Published in American journal of medical genetics. Part A (01.06.2022)
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Journal Article
Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome
Pagnamenta, Alistair T., Kaisaki, Pamela J., Bennett, Fenella, Burkitt‐Wright, Emma, Martin, Hilary C., Ferla, Matteo P., Taylor, John M., Gompertz, Lianne, Lahiri, Nayana, Tatton‐Brown, Katrina, Newbury‐Ecob, Ruth, Henderson, Alex, Joss, Shelagh, Weber, Astrid, Carmichael, Jenny, Turnpenny, Peter D., McKee, Shane, Forzano, Francesca, Ashraf, Tazeen, Bradbury, Kimberley, Shears, Deborah, Kini, Usha, de Burca, Anna, Blair, Edward, Taylor, Jenny C., Stewart, Helen
Published in Clinical genetics (01.06.2019)
Published in Clinical genetics (01.06.2019)
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Journal Article
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components
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
Published in Molecular genetics and metabolism (01.07.2013)
Published in Molecular genetics and metabolism (01.07.2013)
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Journal Article
Perceived fatigue in children and young adults with neurofibromatosis type 1
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
Published in Journal of paediatrics and child health (01.06.2020)
Published in Journal of paediatrics and child health (01.06.2020)
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Journal Article
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy
Pierpont, Elizabeth I., Bennett, Anton M., Schoyer, Lisa, Stronach, Beth, Anschutz, April, Borrie, Sarah C., Briggs, Benjamin, Burkitt‐Wright, Emma, Castel, Pau, Cirstea, Ion C., Draaisma, Fieke, Ellis, Michelle, Fear, Vanessa S., Frone, Megan N., Flex, Elisabetta, Gelb, Bruce D., Green, Tamar, Gripp, Karen W., Khoshkhoo, Sattar, Kieran, Mark W., Kleemann, Karolin, Klein‐Tasman, Bonita P., Kontaridis, Maria I., Kruszka, Paul, Leoni, Chiara, Liu, Clifford Z., Merchant, Nadia, Magoulas, Pilar L., Moertel, Christopher, Prada, Carlos E., Rauen, Katherine A., Roelofs, Renée, Rossignol, Rodrigue, Sevilla, Christine, Sevilla, Gigi, Sheedy, Ryan, Stieglitz, Elliot, Sun, Daochun, Tiemens, Dagmar, White, Forest, Wingbermühle, Ellen, Wolf, Cordula, Zenker, Martin, Andelfinger, Gregor
Published in American journal of medical genetics. Part A (01.04.2024)
Published in American journal of medical genetics. Part A (01.04.2024)
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Journal Article
The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience
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.
Published in Clinical otolaryngology (01.11.2021)
Published in Clinical otolaryngology (01.11.2021)
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Journal Article
Brittle cornea syndrome: recognition, molecular diagnosis and management
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
Published in Orphanet journal of rare diseases (04.05.2013)
Published in Orphanet journal of rare diseases (04.05.2013)
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Journal Article
Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
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
Published in American journal of human genetics (10.06.2011)
Published in American journal of human genetics (10.06.2011)
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Journal Article
The sixth international RASopathies symposium: Precision medicine—From promise to practice
Gripp, Karen W., Schill, Lisa, Schoyer, Lisa, Stronach, Beth, Bennett, Anton M., Blaser, Susan, Brown, Amanda, Burdine, Rebecca, Burkitt‐Wright, Emma, Castel, Pau, Darilek, Sandra, Dias, Alwyn, Dyer, Tuesdi, Ellis, Michelle, Erickson, Gregg, Gelb, Bruce D., Green, Tamar, Gross, Andrea, Ho, Alan, Holder, James Lloyd, Inoue, Shin‐Ichi, Jelin, Angie C., Kennedy, Annie, Klein, Richard, Kontaridis, Maria I., Magoulas, Pilar, McConnell, Darryl B., McCormick, Frank, Neel, Benjamin G., Prada, Carlos E., Rauen, Katherine A., Roberts, Amy, Rodriguez‐Viciana, Pablo, Rosen, Neal, Rumbaugh, Gavin, Sablina, Anna, Solman, Maja, Tartaglia, Marco, Thomas, Angelica, Timmer, William C., Venkatachalam, Kartik, Walsh, Karin S., Wolters, Pamela L., Yi, Jae‐Sung, Zenker, Martin, Ratner, Nancy
Published in American journal of medical genetics. Part A (01.03.2020)
Published in American journal of medical genetics. Part A (01.03.2020)
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Journal Article
Conference Proceeding
Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome
Urosevic, Jelena, Sauzeau, Vincent, Soto-Montenegro, MarÃa L, Reig, Santiago, Desco, Manuel, Wright, Emma M. Burkitt, Cañamero, Marta, Mulero, Francisca, Ortega, Sagrario, Bustelo, Xosé R, Barbacid, Mariano
Published in Proceedings of the National Academy of Sciences - PNAS (22.03.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (22.03.2011)
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Journal Article
Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val
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
Published in American journal of medical genetics. Part A (01.05.2012)
Published in American journal of medical genetics. Part A (01.05.2012)
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Journal Article
Clinical and neuroradiological characterisation of spinal lesions in adults with Neurofibromatosis type 1
Curtis-Lopez, Carlos M., Soh, Calvin, Ealing, John, Gareth Evans, D., Burkitt Wright, Emma M.M., Vassallo, Grace, Karabatsou, Konstantina, Joshi George, K.
Published in Journal of clinical neuroscience (01.07.2020)
Published in Journal of clinical neuroscience (01.07.2020)
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Journal Article
Pierpont syndrome: A collaborative study
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
Published in American journal of medical genetics. Part A (01.09.2011)
Published in American journal of medical genetics. Part A (01.09.2011)
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Journal Article
Brittle cornea syndrome: current perspectives
Walkden, Andrew, Burkitt-Wright, Emma, Au, Leon
Published in Clinical ophthalmology (Auckland, N.Z.) (01.08.2019)
Published in Clinical ophthalmology (Auckland, N.Z.) (01.08.2019)
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Journal Article
A retrospective regional study of aqueduct stenosis and fourth ventricle outflow obstruction in the paediatric complex neurofibromatosis type 1 population; Aetiology, clinical presentation and management
Murphy, Christopher, Vassallo, Grace, Burkitt-Wright, Emma, Hupton, Eileen, Eelloo, Judith, Lewis, Lauren, Huson, Susan, Stivaros, Stavros, Kamaly-Asl, Ian
Published in Clinical neurology and neurosurgery (01.06.2020)
Published in Clinical neurology and neurosurgery (01.06.2020)
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Journal Article
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study
Forde, Claire, Burkitt-Wright, Emma, Turnpenny, Peter D, Haan, Eric, Ealing, John, Mansour, Sahar, Holder, Muriel, Lahiri, Nayana, Dixit, Abhijit, Procter, Annie, Pacot, Laurence, Vidaud, Dominique, Capri, Yline, Gerard, Marion, Dollfus, Hélène, Schaefer, Elise, Quelin, Chloé, Sigaudy, Sabine, Busa, Tiffany, Vera, Gabriella, Damaj, Lena, Messiaen, Ludwine, Stevenson, David A, Davies, Peter, Palmer-Smith, Sheila, Callaway, Alison, Wolkenstein, Pierre, Pasmant, Eric, Upadhyaya, Meena
Published in European journal of human genetics : EJHG (01.03.2022)
Published in European journal of human genetics : EJHG (01.03.2022)
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