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Works by Burkitt, Emma M.M.

Results: 4

1

Experiences and concerns of parents of children with a 16p11.2 deletion or duplication diagnosis: a reflexive thematic analysis.

Published in:

BMC Psychology, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40359-024-01609-9

By:

Butter, Charlotte E.;
Goldie, Caitlin L.;
Hall, Jessica H.;
Leadbitter, Kathy;
Burkitt, Emma M.M.;
van den Bree, Marianne B.M.;
Green, Jonathan M.

Publication type:

Article

2

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4315, doi. 10.1093/hmg/ddu148

By:

Flex, Elisabetta;
Jaiswal, Mamta;
Pantaleoni, Francesca;
Martinelli, Simone;
Strullu, Marion;
Fansa, Eyad K.;
Caye, Aurélie;
De Luca, Alessandro;
Lepri, Francesca;
Dvorsky, Radovan;
Pannone, Luca;
Paolacci, Stefano;
Zhang, Si-Cai;
Fodale, Valentina;
Bocchinfuso, Gianfranco;
Rossi, Cesare;
Burkitt-Wright, Emma M.M.;
Farrotti, Andrea;
Stellacci, Emilia;
Cecchetti, Serena

Publication type:

Article

3

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1102, doi. 10.1002/ajmg.a.35296

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

Publication type:

Article

4

Pierpont syndrome: A collaborative study.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2203, doi. 10.1002/ajmg.a.34147

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

Publication type:

Article