Using the PHP code extracts allows Academic Staff Profiles to be displayed in a number of different styles including the tabbed format shown below - the data is provided dynamically from the IRIS application, while maintaning the consistent look and feel of your site.
Dr Philip Stanier
Telephone:020 7905 2867
Extension:020 7905 2867
Address:Institute of Child Health UCL,
30 Guildford Street,
Appointments:GOSHCC Reader in Cranofacial Developmental Biology and Genetics, ICH - Neural Development Unit, Dept of Neurosciences & Mental Health
My research interests are focussed around identifying the genetic and molecular basis of common birth defects, particularly those affecting neural tube or craniofacial development. Our investigation of mouse models with severe neural tube defects (NTD) led to the discovery that the planar cell polarity pathway (PCP), first described in Drosophila, plays an essential role of in normal and abnormal neural tube development. Current research is investigating PCP genes for their role in human NTD. In addition, we are investigating the contribution of inborn errors of folate metabolism in cohorts of patients with open neural tubes (e.g. spina bifida aperta, anencephaly and craniorachischisis), as well as closed defects (spina bifida occulta). My lab also studies the genetics and cellular mechanism underlying cleft lip and/or palate, with a particular interest in X-linked cleft palate caused by mutations in the transcription factor TBX22.
- Development of Neural Tube Defects
- Genetics of early CNS malformations, cleft lip and cleft palate
- Pathogenesis of craniofacial birth defects.
Displaying 50 most recent publications. For the full list please visit UCL Discovery
- Copp AJ,Stanier P,Greene NDE (2013) Neural tube defects: Recent advances, unsolved questions, and controversies The Lancet Neurology, 12(8), 799 - 810. 10.1016/S1474-4422(13)70110-8.
- Kinsler V,Thomas A,Ishida M,Bulstrode N,Stanier P,Healy E,Sebire N,Moore G (2013) Somatic mosaicism for activating mutations in codon 61 of NRAS is responsible for multiple congenital melanocytic naevi and neurocutaneous melanosis, and underpins the increased risk of melanoma BRITISH JOURNAL OF DERMATOLOGY, 169, 1 - 1.
- Kinsler VA,Thomas A,Ishida M,Bulstrode NW,Stanier P,Healy E,Sebire NJ,Moore GE (2013) Multiple congenital melanocytic naevi and neurocutaneous melanosis are caused by post-zygotic activating mutations in codon 61 of NRAS, increasing the risk of melanoma in affected tissues JOURNAL OF INVESTIGATIVE DERMATOLOGY, 133, S160 - S160.
- Pauws E,Peskett E,Boissin C,Hoshino A,Mengrelis K,Carta E,Abruzzo MA,Lees M,Moore GE,Erickson RP,Stanier P (2013) X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. Clin Genet, 83(4), 352 - 358. 10.1111/j.1399-0004.2012.01930.x.
- Moore GE,Stanier P (2013) Fat dads must not be blamed for their children's health problems. BMC Med, 11, 30. 10.1186/1741-7015-11-30.
- Kinsler VA,Thomas AC,Ishida M,Bulstrode NW,Loughlin S,Hing S,Chalker J,McKenzie K,Abu-Amero S,Slater O,Chanudet E,Palmer R,Morrogh D,Stanier P,Healy E,Sebire NJ,Moore GE (2013) Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. J Invest Dermatol, 133(9), 2229 - 2236. 10.1038/jid.2013.70.
- Robinson R,Partridge D,Malhas A,De Castro SCP,Gustavsson P,Thompson DN,Vaux DJ,Copp AJ,Stanier P,Bassuk AG,Greene NDE (2013) Is LMNB1 a susceptibility gene for neural tube defects in humans? Birth Defects Research Part A: Clinical and Molecular Teratology. 10.1002/bdra.23141.
- Stanier P,Pauws E (2012) Development of the lip and palate: FGF signalling. Frontiers of Oral Biology, 16, 71 - 80.
- Kinsler VA,Thomas AC,Ishida M,Bulstrode NW,Loughlin S,Hing S,Chalker J,Mckenzie K,Abu-Amero S,Slater O,Chanudet E,Palmer R,Morrogh D,Stanier P,Healy E,Sebire NJ,Moore GE (2012) Multiple congenital melanocytic naevi and neurocutaneous melanosis are caused by mosaicism for NRAS codon 61 mutations, leading to an increased risk of melanoma in affected tissues GENETICS RESEARCH, 94(6), 358 - 359.
- Thomas AC,Frost JM,Ishida M,Vargha-Khadem F,Moore GE,Stanier P (2012) The speech gene FOXP2 is not imprinted. J Med Genet, 49(11), 669 - 670. 10.1136/jmedgenet-2012-101242.
- Kinsler VA,Abu-Amero S,Budd P,Jackson IJ,Ring SM,Northstone K,Atherton DJ,Bulstrode NW,Stanier P,Hennekam RC,Sebire NJ,Moore GE,Healy E (2012) Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development. Journal of Investigative Dermatology, doi: 10.1038/jid.2012.95. [Epub ahead of print].
- Stanier P,Pauws E (2012) Development of the lip and palate: FGF signalling., 16, 71 - 80. 10.1159/000337618.
- Ishida M,Monk D,Duncan AJ,Abu-Amero S,Chong J,Pembrey ME,Hindmarsh PC,Moore GE,Ring SM,Whittaker JC,Stanier P (2012) Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight American Journal of Human Genetics, 90(4), 715 - 719. 10.1016/j.ajhg.2012.02.021.
- Narisawa A,Komatsuzaki S,Niihori T,Aoki Y,Matsubara Y,Kure S,Tominaga T,Kikuchi A,Fujiwara K,Tanemura M,Hata A,Suzuki Y,Relton CL,Grinham J,Leung K-Y,Partridge D,Robinson A,Stone V,Stanier P,Copp AJ,Greene NDE,Gustavsson P (2012) Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans Human Molecular Genetics, 21(7), 1496 - 1503. 10.1093/hmg/ddr585.
- Robinson A,Escuin S,Doudney K,Vekemans M,Stevenson RE,Greene ND,Copp AJ,Stanier P (2012) Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat, 33(2), 440 - 447. 10.1002/humu.21662.
- Kinsler V,Abu-Amero S,Budd P,Jackson I,Stanier P,Hennekam R,Sebire N,Moore G,Healy E (2012) Association between melanocortin-1-receptor (MC1R) genotype and phenotype of congenital melanocytic naevi reveals a wider role for MC1R in utero BRITISH JOURNAL OF DERMATOLOGY, 166(4), e21 - e21.
- Carta E,Pauws E,Thomas AC,Mengrelis K,Moore GE,Lees M,Stanier P (2012) Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate. Birth Defects Res A Clin Mol Teratol, 94(6), 459 - 463. 10.1002/bdra.23008.
- Ishida M,Monk D,Duncan A,Abu-Amero S,Chong J,Ring S,Pembrey M,Hindmarsh P,Whittaker J,Stanier P,Moore GE (2011) Inheritance of a copy number variant in the imprinted PHLDA2 gene promoter significantly increases fetal birth weight GENETICS RESEARCH, 93(6), 435 - 435.
- Kinsler V,Hennekam R,Sebire N,Abu-Amero S,Stanier P,Budd P,Jackson I,Moore G,Healy E (2011) Germline melanocortin-1 receptor variants are associated with severity of phenotype in individuals with congenital melanocytic naevi BRITISH JOURNAL OF DERMATOLOGY, 165, 117 - 117.
- Frost J,Monk D,Moschidou D,Guillot PV,Stanier P,Minger SL,Fisk NM,Moore HD,Moore GE (2011) The effects of culture on genomic imprinting profiles in human embryonic and fetal mesenchymal stem cells. Epigenetics, 6(1), 52 - 62. 10.4161/epi.6.1.13361.
- Rooryck C,Diaz-Font A,Osborn DP,Chabchoub E,Hernandez-Hernandez V,Shamseldin H,Kenny J,Waters A,Jenkins D,Kaissi AA,Leal GF,Dallapiccola B,Carnevale F,Bitner-Glindzicz M,Lees M,Hennekam R,Stanier P,Burns AJ,Peeters H,Alkuraya FS,Beales PL (2011) Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet, 43(3), 197 - 203. 10.1038/ng.757.
- Kantaputra PN,Paramee M,Kaewkhampa A,Hoshino A,Lees M,McEntagart M,Masrour N,Moore GE,Pauws E,Stanier P (2011) Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations. J Dent Res, 90(4), 450 - 455. 10.1177/0022034510391052.
- GREENE N,Stanier P,Moore GE (2011) The emerging role of epigenetic mechanisms in the aetiology of neural tube defects. Epigenetics, 6, 875 - 883.
- Kinsler V,Hennekam R,Sebire N,Abu-Amero S,Stanier P,Budd P,Jackson I,Moore G,Healy E (2010) Germline melanocortin-1-receptor variants are associated with severity of phenotype in individuals with congenital melanocytic naevi JOURNAL OF INVESTIGATIVE DERMATOLOGY, 130, S75 - S75.
- Daelemans C,Ritchie ME,Smits G,Abu-Amero S,Sudbery IM,Forrest MS,Campino S,Clark TG,Stanier P,Kwiatkowski D,Deloukas P,Dermitzakis ET,Tavaré S,Moore GE,Dunham I (2010) High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta. BMC Genet, 11, 25. 10.1186/1471-2156-11-25.
- Abu-Amero S,Wakeling EL,Preece M,Whittaker J,Stanier P,Moore GE (2010) Epigenetic signatures of Silver Russell syndrome Journal of Medical Genetics, 47(3), 150 - 154.
- Robinson A,Doudney K,Greene NDE,Stanier P,Copp AJ (2010) Identification of putative neural tube defect-causing mutations in planar cell polarity genes GENETICS RESEARCH, 92(1), 72 - 73.
- Frost JM,Monk D,Stojilkovic-Mikic T,Woodfine K,Chitty LS,Murrell A,Stanier P,Moore GE (2010) Evaluation of allelic expression of imprinted genes in adult human blood. PLoS One, 5(10), e13556. 10.1371/journal.pone.0013556.
- Acevedo AC,da Fonseca JAC,Grinham J,Doudney K,Gomes RR,de Paula LM,Stanier P (2010) Autosomal-dominant Ankyloglossia and Tooth Number Anomalies J DENT RES, 89(2), 128 - 132. 10.1177/0022034509356401.
- Greene ND,Stanier P,Copp AJ (2009) Genetics of human neural tube defects Human Molecular Genetics, 18, R113 - R129.
- Pauws E,Moore GE,Stanier P (2009) A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia. Journal of Medical Genetics, 46(8), 555 - 561.
- Pauws E,Hoshino A,Bentley L,Prajapati S,Keller C,Martinez-Barbera JP,Moore GE,Stanier P (2009) Loss of Tbx22 causes submucous cleft palate, ankyloglossia and choanal atresia Mechanisms of Development, 126, S122 - S122.
- Doudney K,Grinham J,Whittaker J,Lynch SA,Thompson D,Moore GE,Copp AJ,Greene ND,Stanier P (2009) Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects. American Journal of Medical Genetics Part A, 149A(7), 1585 - 1589.
- Monk D,Arnaud P,Frost J,Hills FA,Stanier P,Feil R,Moore GE (2009) Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expression Human Molecular Genetics, 18(16), 3066 - 3074.
- Daelemans C,Ritchie M,Abu-Amero S,Susbury IM,Stanier P,Forrest MS,Deloukas P,Tavare S,Moore GE,Dunham I (2009) Assessment of candidate imprinted genes in the human term placenta Genetical Research, 91, 136 - 136.
- Pauws E,Hoshino A,Bentley L,Prajapati S,Keller C,Hammond P,Martinez-Barbera JP,Moore GE,Stanier P (2009) Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes. Hum Mol Genet, 18(21), 4171 - 4179. 10.1093/hmg/ddp368.
- Pauws E,Stanier P (2009) Sumoylation in craniofacial disorders.
- Daelemans C,Ritchie ME,Abu-Amero S,Sudbery IM,Stanier P,Forrest MS,Deloukas P,Tavare S,Moore GE,Dunham I (2009) Assessment of candidate imprinted genes in the human term placenta JOURNAL OF MEDICAL GENETICS, 46, S88 - S88.
- Pauws E,Stanier P (2009) Loss of Tbx22 causes submucous cleft palate and ankyloglossia Genetical Research, 91, 133 - 133.
- Liu W,Lan Y,Pauws E,Meester-Smoor MA,Stanier P,Zwarthoff EC,Jiang R (2008) The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice. Development, 135(23), 3959 - 3968.
- Monk D,Wagschal A,Arnaud P,Iglelias-Platas I,Muller P,Parker-Katiraee L,Bourc his D,Scherer SW,Stanier P,Moore GE (2008) Evolutionary comparison of epigenetic profiles at large imprinted domains reveals differing mechanisms of allelic silencing Cellular Oncology, 30, 227 - 227.
- Pauws E,Stanier P (2008) TBX22 and X-linked cleft palate and ankyloglossia, 878 - 882.
- Monk D,Wagschal A,Arnaud P,Muller PS,Parker-Katiraee L,Bourc'his D,Scherer SW,Feil R,Stanier P,Moore GE (2008) Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing Genome Research, 18(8), 1270 - 1281.
- Abu-Amero S,Monk D,Frost J,Preece M,Stanier P,Moore G (2008) The genetic aetiology of Silver-Russell syndrome1 Journal of Medical Genetics, 45(4), 193 - 199.
- Gustavsson P,Greene NDE,Lad D,Pauws E,de Castro SC,Stanier P,Copp AJ (2007) Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model Human Molecular Genetics, 16(21), 2640 - 2646. 10.1093/hmg/ddm221.
- Dunlevy LP,Chitty LS,Burren KA,Doudney K,Stojilkovic-Mikic T,Stanier P,Scott R,Copp AJ,Greene ND (2007) Abnormal folate metabolism in foetuses affected by neural tube defects Brain, 130(Pt 4), 1043 - 1049. 10.1093/brain/awm028.
- Iglesias-Platas I,Monk D,Jebbink J,Buimer M,Boer K,van der Post J,Hills F,Apostolidou S,Ris-Stalpers C,Stanier P,Moore GE (2007) STOX1 is not imprinted and is not likely to be involved in preeclampsia. Nat Genet, 39(3), 279 - 280. 10.1038/ng0307-279.
- Apostolidou S,Abu-Amero S,O Donoghue K,Frost J,Olofsdottir O,Chavele KM,Whittaker JC,Loughna P,Stanier P,Moore GE (2007) Elevated maternal expression of the imprinted PHLDA2 gene is associated with low birth weight. Journal of Molecular Medicine, 85(4), 379 - 387.
- Pauws E,Stanier P (2007) FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate2 Trends Genet., 23(12), 631 - 640.
- Andreou AM,Pauws E,Jones MC,Singh MK,Bussen M,Doudney K,Moore GE,Kispert A,Brosens JJ,Stanier P (2007) TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression The American Journal of Human Genetics, 81(4), 700 - 712. 10.1086/521033.
- 1990: Doctor of Philosophy, St Mary's Hospital Medical School
- 1985: Bachelor of Science, Bristol Polytechnic
- Bioinformatic analysis
- Cell culture
- Cross-sectional and cohort studies
- Gene expression profiling - tissue level
- Genetic screens
- Genetically encoded reporters/indicators
- Genomic analyses
- Image analysis
- Linkage, mapping and positional cloning
- Molecular and Genetic analysis of birth defects
- Molecular imaging
- Spina bifida
- Spinal cord
- Transgenic mice
- cleft lip
- cleft palate