Fat dads must not be blamed for their children's health problems

por Moore, Gudrun E, Stanier, Philip
Publicado 2013

Genetics of human neural tube defects

por Greene, Nicholas D.E., Stanier, Philip, Copp, Andrew J.
Publicado 2009

Identification and validation of loss of function variants in clinical contexts

por Lescai, Francesco, Marasco, Elena, Bacchelli, Chiara, Stanier, Philip, Mantovani, Vilma, Beales, Philip
Publicado 2014

Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages

por Seda, Marian, Peskett, Emma, Demetriou, Charalambos, Bryant, Dale, Moore, Gudrun E., Stanier, Philip, Jenkins, Dagan
Publicado 2019

Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects

por Alvizi, Lucas, Ke, Xiayi, Brito, Luciano Abreu, Seselgyte, Rimante, Moore, Gudrun E., Stanier, Philip, Passos-Bueno, Maria Rita
Publicado 2017

Enrichment of Clinically Relevant Organisms in Spontaneous Preterm-Delivered Placentas and Reagent Contamination across All Clinical Groups in a Large Pregnancy Cohort in the Unite...

por Leon, Lydia J., Doyle, Ronan, Diez-Benavente, Ernest, Clark, Taane G., Klein, Nigel, Stanier, Philip, Moore, Gudrun E.
Publicado 2018

Vangl2–environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension

por Nychyk, Oleksandr, Galea, Gabriel L., Molè, Matteo, Savery, Dawn, Greene, Nicholas D. E., Stanier, Philip, Copp, Andrew J.
Publicado 2022

Evaluation of Allelic Expression of Imprinted Genes in Adult Human Blood

por Frost, Jennifer M., Monk, Dave, Stojilkovic-Mikic, Taita, Woodfine, Kathryn, Chitty, Lyn S., Murrell, Adele, Stanier, Philip, Moore, Gudrun E.
Publicado 2010

Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice

por Murdoch, Jennifer N., Damrau, Christine, Paudyal, Anju, Bogani, Debora, Wells, Sara, Greene, Nicholas D. E., Stanier, Philip, Copp, Andrew J.
Publicado 2014

A new biological and clinical resource for research into pregnancy complications: The Baby Bio Bank

por Leon, Lydia J., Solanky, Nita, Stalman, Susanne E., Demetriou, Charalambos, Abu-Amero, Sayeda, Stanier, Philip, Regan, Lesley, Moore, Gudrun E.
Publicado 2016

Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse

por Lee, Kevin K. L., Peskett, Emma, Quinn, Charlotte M., Aiello, Rosanna, Adeeva, Liliya, Moulding, Dale A., Stanier, Philip, Pauws, Erwin
Publicado 2018

Tbx22(null) mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes

por Pauws, Erwin, Hoshino, Aya, Bentley, Lucy, Prajapati, Suresh, Keller, Charles, Hammond, Peter, Martinez-Barbera, Juan-Pedro, Moore, Gudrun E., Stanier, Philip
Publicado 2009

Spina bifida-predisposing heterozygous mutations in Planar Cell Polarity genes and Zic2 reduce bone mass in young mice

por Orriss, Isabel R., Lanham, Stuart, Savery, Dawn, Greene, Nicholas D. E., Stanier, Philip, Oreffo, Richard, Copp, Andrew J., Galea, Gabriel L.
Publicado 2018

Is LMNB1 a Susceptibility Gene for Neural Tube Defects in Humans?

por Robinson, Alexis, Partridge, Darren, Malhas, Ashraf, De Castro, Sandra CP, Gustavsson, Peter, Thompson, Dominic N, Vaux, David J, Copp, Andrew J, Stanier, Philip, Bassuk, Alexander G, Greene, Nicholas DE
Publicado 2013

Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice

por De Castro, Sandra C P, Gustavsson, Peter, Marshall, Abigail R, Gordon, William M, Galea, Gabriel, Nikolopoulou, Evanthia, Savery, Dawn, Rolo, Ana, Stanier, Philip, Andersen, Bogi, Copp, Andrew J, Greene, Nicholas D E
Publicado 2018

High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta

por Daelemans, Caroline, Ritchie, Matthew E, Smits, Guillaume, Abu-Amero, Sayeda, Sudbery, Ian M, Forrest, Matthew S, Campino, Susana, Clark, Taane G, Stanier, Philip, Kwiatkowski, Dominic, Deloukas, Panos, Dermitzakis, Emmanouil T, Tavaré, Simon, Moore, Gudrun E, Dunham, Ian
Publicado 2010

Germline Melanocortin-1-Receptor Genotype Is Associated with Severity of Cutaneous Phenotype in Congenital Melanocytic Nevi: A Role for MC1R in Human Fetal Development

por Kinsler, Veronica A, Abu-Amero, Sayeda, Budd, Peter, Jackson, Ian J, Ring, Susan M, Northstone, Kate, Atherton, David J, Bulstrode, Neil W, Stanier, Philip, Hennekam, Raoul C, Sebire, Neil J, Moore, Gudrun E, Healy, Eugene
Publicado 2012

Paternally Expressed, Imprinted Insulin-Like Growth Factor-2 in Chorionic Villi Correlates Significantly with Birth Weight

por Demetriou, Charalambos, Abu-Amero, Sayeda, Thomas, Anna C., Ishida, Miho, Aggarwal, Reena, Al-Olabi, Lara, Leon, Lydia J., Stafford, Jaime L., Syngelaki, Argyro, Peebles, Donald, Nicolaides, Kypros H., Regan, Lesley, Stanier, Philip, Moore, Gudrun E.
Publicado 2014

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

por Piard, Juliette, Lespinasse, James, Vlckova, Marketa, Mensah, Martin A., Iurian, Sorin, Simandlova, Martina, Malikova, Marcela, Bartsch, Oliver, Rossi, Massimiliano, Lenoir, Marion, Nugues, Frédérique, Mundlos, Stefan, Kornak, Uwe, Stanier, Philip, Sousa, Sérgio B., Van Maldergem, Lionel
Publicado 2018

Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS

por Kinsler, Veronica A, Thomas, Anna C, Ishida, Miho, Bulstrode, Neil W, Loughlin, Sam, Hing, Sandra, Chalker, Jane, McKenzie, Kathryn, Abu-Amero, Sayeda, Slater, Olga, Chanudet, Estelle, Palmer, Rodger, Morrogh, Deborah, Stanier, Philip, Healy, Eugene, Sebire, Neil J, Moore, Gudrun E
Publicado 2013