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

por Wilkie, Andrew O. M., Goriely, Anne
Publicado 2017

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 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 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 2018

The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors

por Maher, Geoffrey J, Bernkopf, Marie, Koelling, Nils, Wilkie, Andrew O M, Meistrich, Marvin L, Goriely, Anne
Publicado 2019

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels

por Tooze, Rebecca S., Calpena, Eduardo, Weber, Astrid, Wilson, Louise C., Twigg, Stephen R. F., Wilkie, Andrew O. M.
Publicado 2023

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function

por Tooze, Rebecca S, Calpena, Eduardo, Twigg, Stephen R F, D’Arco, Felice, Wakeling, Emma L, Wilkie, Andrew O M
Publicado 2023

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 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 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 2015

Gastrointestinal disorders in Curry–Jones syndrome: Clinical and molecular insights from an affected newborn

por Wigby, Kristen, Twigg, Stephen R. F., Broderick, Ryan, Davenport, Katherine P., Wilkie, Andrew O. M., Bickler, Stephen W., Jones, Marilyn C.
Publicado 2017

amplimap: a versatile tool to process and analyze targeted NGS data

por Koelling, Nils, Bernkopf, Marie, Calpena, Eduardo, Maher, Geoffrey J, Miller, Kerry A, Ralph, Hannah K, Goriely, Anne, Wilkie, Andrew O M
Publicado 2019

amplimap: a versatile tool to process and analyze targeted NGS data

por Koelling, Nils, Bernkopf, Marie, Calpena, Eduardo, Maher, Geoffrey J, Miller, Kerry A, Ralph, Hannah K, Goriely, Anne, Wilkie, Andrew O M
Publicado 2020

Selfish Spermatogonial Selection: Evidence from an Immunohistochemical Screen in Testes of Elderly Men

por Lim, Jasmine, Maher, Geoffrey J., Turner, Gareth D. H., Dudka-Ruszkowska, Wioleta, Taylor, Stephen, Meyts, Ewa Rajpert-De, Goriely, Anne, Wilkie, Andrew O. M.
Publicado 2012

Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay

por Jenkins, Dagan, Baynam, Gareth, De Catte, Luc, Elcioglu, Nursel, Gabbett, Michael T, Hudgins, Louanne, Hurst, Jane A, Jehee, Fernanda Sarquis, Oley, Christine, Wilkie, Andrew O M
Publicado 2011

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis

por Nabais Sá, Maria J, Miller, Kerry A, McQuaid, Mary, Koelling, Nils, Wilkie, Andrew O M, Wurtele, Hugo, de Brouwer, Arjan P M, Oliveira, Jorge
Publicado 2022

Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome

por Zhou, Yan, Koelling, Nils, Fenwick, Aimée L., McGowan, Simon J., Calpena, Eduardo, Wall, Steven A., Smithson, Sarah F., Wilkie, Andrew O.M., Twigg, Stephen R.F.
Publicado 2018

Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly—Mental Retardation Syndrome

por Vodopiutz, Julia, Zoller, Heinz, Fenwick, Aimée L., Arnhold, Richard, Schmid, Max, Prayer, Daniela, Müller, Thomas, Repa, Andreas, Pollak, Arnold, Aufricht, Christoph, Wilkie, Andrew O.M., Janecke, Andreas R.
Publicado 2013

‘Sifting the significance from the data’ - the impact of high-throughput genomic technologies on human genetics and health care

por Clarke, Angus J, Cooper, David N, Krawczak, Michael, Tyler-Smith, Chris, Wallace, Helen M, Wilkie, Andrew O M, Raymond, Frances Lucy, Chadwick, Ruth, Craddock, Nick, John, Ros, Gallacher, John, Chiano, Mathias
Publicado 2012

Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis

por Justice, Cristina M., Musolf, Anthony M., Cuellar, Araceli, Lattanzi, Wanda, Simeonov, Emil, Kaneva, Radka, Paschall, Justin, Cunningham, Michael, Wilkie, Andrew O. M., Wilson, Alexander F., Romitti, Paul A., Boyadjiev, Simeon A.
Publicado 2022