Gene Therapy: A Handbook for Physicians

Por Wilkie, Andrew O M
Publicado em 1996

Craniosynostosis

Por Johnson, David, Wilkie, Andrew O M
Publicado em 2011

Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

Por Goriely, Anne, Wilkie, Andrew O.M.
Publicado em 2012

Gonadal mosaicism and non‐invasive prenatal diagnosis for ‘reassurance’ in sporadic paternal age effect (PAE) disorders

Por Wilkie, Andrew O. M., Goriely, Anne
Publicado no Prenat Diagn (2017)

Genetic aspects of birth defects: new understandings of old problems

Por Prescott, Katrina R, Wilkie, Andrew O M
Publicado em 2007

A Genetic-Pathophysiological Framework for Craniosynostosis

Por Twigg, Stephen R.F., Wilkie, Andrew O.M.
Publicado no Am J Hum Genet (2015)

New insights into craniofacial malformations

Por Twigg, Stephen R.F., Wilkie, Andrew O.M.
Publicado no Hum Mol Genet (2015)

Efficient use of a ‘dead-end’ GA 5′ splice site in the human fibroblast growth factor receptor genes

Por Brackenridge, Simon, Wilkie, Andrew O.M., Screaton, Gavin R.
Publicado em 2003

Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog

Por Babbs, Christian, Furniss, Dominic, Morriss-Kay, Gillian M., Wilkie, Andrew O.M.
Publicado em 2008

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis

Por Bochukova, Elena G, Soneji, Shamit, Wall, Steven A, Wilkie, Andrew O M
Publicado em 2009

The Drosophila homologue of MEGF8 is essential for early development

Por Lloyd, Deborah L., Toegel, Markus, Fulga, Tudor A., Wilkie, Andrew O. M.
Publicado no Sci Rep (2018)

Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation

Por Antonopoulou, Ileana, Mavrogiannis, Lampros A, Wilkie, Andrew O M, Morriss-Kay, Gillian M
Publicado em 2004

Linkage of Otopalatodigital Syndrome Type 2 (OPD2) to Distal Xq28: Evidence for Allelism with OPD1

Por Robertson, Stephen P., Walsh, Sinead, Oldridge, Michael, Gunn, Tania, Becroft, David, Wilkie, Andrew O. M.
Publicado em 2001

“Selfish spermatogonial selection”: a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders

Por Goriely, Anne, McGrath, John J., Hultman, Christina M., Wilkie, Andrew O.M., Malaspina, Dolores
Publicado em 2013

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes

Por Maher, Geoffrey J., McGowan, Simon J., Giannoulatou, Eleni, Verrill, Clare, Goriely, Anne, Wilkie, Andrew O. M.
Publicado no Proc Natl Acad Sci U S A (2016)

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb

Por Furniss, Dominic, Lettice, Laura A., Taylor, Indira B., Critchley, Paul S., Giele, Henk, Hill, Robert E., Wilkie, Andrew O.M.
Publicado em 2008

Hearing loss in a mouse model of Muenke syndrome

Por Mansour, Suzanne L., Twigg, Stephen R.F., Freeland, Rowena M., Wall, Steven A., Li, Chaoying, Wilkie, Andrew O.M.
Publicado em 2009

TCF12 microdeletion in a 72‐year‐old woman with intellectual disability

Por Piard, Juliette, Rozé, Virginie, Czorny, Alain, Lenoir, Marion, Valduga, Mylène, Fenwick, Aimée L., Wilkie, Andrew O. M., Maldergem, Lionel Van
Publicado no Am J Med Genet A (2015)

Missense Mutations in the Homeodomain of HOXD13 Are Associated with Brachydactyly Types D and E

Por Johnson, David, Kan, Shih-hsin, Oldridge, Michael, Trembath, Richard C., Roche, Philippe, Esnouf, Robert M., Giele, Henk, Wilkie, Andrew O. M.
Publicado em 2003

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

Por Rimmer, Andy, Phan, Hang, Mathieson, Iain, Iqbal, Zamin, Twigg, Stephen R F, Wilkie, Andrew O M, McVean, Gil, Lunter, Gerton
Publicado no Nat Genet (2014)