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Philippe Stanier MD, MBA

TitleAssistant Professor
InstitutionUMass Chan Medical School
DepartmentEmergency Medicine
AddressUMass Chan Medical School
55 Lake Avenue North
Worcester MA 01655
Phone508-421-1401
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    Other Positions
    InstitutionT.H. Chan School of Medicine
    DepartmentEmergency Medicine


    Collapse Biography 
    Collapse education and training
    Andrews University, Berrien Springs, MI, United StatesBSBiology
    Isenberg School of Management, UMass Amherst, Amherst, MA, United StatesMBA
    Loma Linda University, Loma Linda, CA, United StatesMD

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Nychyk O, Galea GL, Mol? M, Savery D, Greene NDE, Stanier P, Copp AJ. Vangl2-environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension. Dis Model Mech. 2022 01 01; 15(1). PMID: 34842271.
      Citations: 2     Fields:    Translation:Animals
    2. Polubothu S, Zecchin D, Al-Olabi L, Lionarons DA, Harland M, Horswell S, Thomas AC, Hunt L, Wlodarchak N, Aguilera P, Brand S, Bryant D, Carrera C, Chen H, Elgar G, Harwood CA, Howell M, Larue L, Loughlin S, MacDonald J, Malvehy J, Barberan SM, da Silva VM, Molina M, Morrogh D, Moulding D, Nsengimana J, Pittman A, Puig-Butill? JA, Parmar K, Sebire NJ, Scherer S, Stadnik P, Stanier P, Tell G, Waelchli R, Zarrei M, Puig S, Bataille V, Xing Y, Healy E, Moore GE, Di WL, Newton-Bishop J, Downward J, Kinsler VA. Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype. Genet Med. 2021 09; 23(9):1636-1647. PMID: 34145395.
      Citations: 1     Fields:    Translation:Humans
    3. Bryant D, Seda M, Peskett E, Maurer C, Pomeranz G, Ghosh M, Hawkins TA, Cleak J, Datta S, Hariri H, Eckert KM, Jafree DJ, Walsh C, Demetriou C, Ishida M, Alem?n-Charlet C, Vestito L, Seselgyte R, McDonald JG, Bitner-Glindzicz M, Hemberger M, Rihel J, Teboul L, Henne WM, Jenkins D, Moore GE, Stanier P. Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations. Sci Rep. 2020 08 13; 10(1):13763. PMID: 32792680.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    4. Demetriou C, Chanudet E, Joseph A, Topf M, Thomas AC, Bitner-Glindzicz M, Regan L, Stanier P, Moore GE. Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans. Hum Mol Genet. 2019 10 15; 28(20):3466-3474. PMID: 31504499.
      Citations: 8     Fields:    Translation:HumansCells
    5. Sommerlad B, Seselgyte R, Lees M, Pauws E, Stanier P, Sell D. Familial Absent Uvula With Velopharyngeal Incompetence-A New Syndrome? Cleft Palate Craniofac J. 2020 04; 57(4):514-519. PMID: 31607140.
      Citations: 1     Fields:    Translation:Humans
    6. Seda M, Peskett E, Demetriou C, Bryant D, Moore GE, Stanier P, Jenkins D. Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages. F1000Res. 2019; 8:273. PMID: 31231513.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    7. Howe LJ, Richardson TG, Arathimos R, Alvizi L, Passos-Bueno MR, Stanier P, Nohr E, Ludwig KU, Mangold E, Knapp M, Stergiakouli E, Pourcain BS, Smith GD, Sandy J, Relton CL, Lewis SJ, Hemani G, Sharp GC. Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate. Epigenomics. 2019 02; 11(2):133-145. PMID: 30638414.
      Citations: 14     Fields:    Translation:HumansCells
    8. De Castro SCP, Gustavsson P, Marshall AR, Gordon WM, Galea G, Nikolopoulou E, Savery D, Rolo A, Stanier P, Andersen B, Copp AJ, Greene NDE. Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice. Hum Mol Genet. 2018 12 15; 27(24):4218-4230. PMID: 30189017.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    9. Lee KKL, Peskett E, Quinn CM, Aiello R, Adeeva L, Moulding DA, Stanier P, Pauws E. Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse. Dis Model Mech. 2018 11 09; 11(11). PMID: 30266836.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    10. Lee KKL, Stanier P, Pauws E. Mouse Models of Syndromic Craniosynostosis. Mol Syndromol. 2019 Feb; 10(1-2):58-73. PMID: 30976280.
      Citations:    
    11. Leon LJ, Doyle R, Diez-Benavente E, Clark TG, Klein N, Stanier P, Moore GE. Enrichment of Clinically Relevant Organisms in Spontaneous Preterm-Delivered Placentas and Reagent Contamination across All Clinical Groups in a Large Pregnancy Cohort in the United Kingdom. Appl Environ Microbiol. 2018 07 15; 84(14). PMID: 29776928.
      Citations: 37     Fields:    Translation:HumansCells
    12. Bryant D, Liu Y, Datta S, Hariri H, Seda M, Anderson G, Peskett E, Demetriou C, Sousa S, Jenkins D, Clayton P, Bitner-Glindzicz M, Moore GE, Henne WM, Stanier P. SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20. Hum Mol Genet. 2018 06 01; 27(11):1927-1940. PMID: 29635513.
      Citations: 31     Fields:    Translation:HumansAnimalsCells
    13. Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, Chi? A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A. Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis. EMBO J. 2018 06 01; 37(11). PMID: 29764981.
      Citations: 73     Fields:    Translation:HumansAnimalsCells
    14. Stalman SE, Solanky N, Ishida M, Alem?n-Charlet C, Abu-Amero S, Alders M, Alvizi L, Baird W, Demetriou C, Henneman P, James C, Knegt LC, Leon LJ, Mannens MMAM, Mul AN, Nibbering NA, Peskett E, Rezwan FI, Ris-Stalpers C, van der Post JAM, Kamp GA, Pl?tz FB, Wit JM, Stanier P, Moore GE, Hennekam RC. Genetic Analyses in Small-for-Gestational-Age Newborns. J Clin Endocrinol Metab. 2018 03 01; 103(3):917-925. PMID: 29342293.
      Citations: 19     Fields:    Translation:HumansCells
    15. Orriss IR, Lanham S, Savery D, Greene NDE, Stanier P, Oreffo R, Copp AJ, Galea GL. Spina bifida-predisposing heterozygous mutations in Planar Cell Polarity genes and Zic2 reduce bone mass in young mice. Sci Rep. 2018 02 20; 8(1):3325. PMID: 29463853.
      Citations: 3     Fields:    Translation:Animals
    16. Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L. Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. Am J Med Genet A. 2018 03; 176(3):668-675. PMID: 29341480.
      Citations: 6     Fields:    Translation:Humans
    17. Goos JAC, Swagemakers SMA, Twigg SRF, van Dooren MF, Hoogeboom AJM, Beetz C, G?nther S, Magielsen FJ, Ockeloen CW, A Ramos-Arroyo M, Pfundt R, Yntema HG, van der Spek PJ, Stanier P, Wieczorek D, Wilkie AOM, van den Ouweland AMW, Mathijssen IMJ, Hurst JA. Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. Eur J Hum Genet. 2017 10; 25(10):1126-1133. PMID: 28905882.
      Citations: 4     Fields:    Translation:HumansCells
    18. Alvizi L, Ke X, Brito LA, Seselgyte R, Moore GE, Stanier P, Passos-Bueno MR. Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects. Sci Rep. 2017 05 26; 7(1):2441. PMID: 28550290.
      Citations: 28     Fields:    Translation:HumansCells
    19. Muggenthaler MM, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, Zahka K, Faqeih E, Blakley B, Jackson M, Lees M, Dolinsky V, Cross L, Stanier P, Salter C, Baple EL, Alkuraya FS, Crosby AH, Triggs-Raine B, Chioza BA. Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. PLoS Genet. 2017 Jan; 13(1):e1006470. PMID: 28081210.
      Citations: 8     Fields:    Translation:HumansAnimals
    20. Pauws E, Stanier P. Sumoylation in Craniofacial Disorders. Adv Exp Med Biol. 2017; 963:323-335. PMID: 28197921.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    21. Leon LJ, Solanky N, Stalman SE, Demetriou C, Abu-Amero S, Stanier P, Regan L, Moore GE. A new biological and clinical resource for research into pregnancy complications: The Baby Bio Bank. Placenta. 2016 10; 46:31-37. PMID: 27697219.
      Citations: 6     Fields:    Translation:Humans
    22. Mendioroz M, Do C, Jiang X, Liu C, Darbary HK, Lang CF, Lin J, Thomas A, Abu-Amero S, Stanier P, Temkin A, Yale A, Liu MM, Li Y, Salas M, Kerkel K, Capone G, Silverman W, Yu YE, Moore G, Wegiel J, Tycko B. Erratum to: Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models. Genome Biol. 2016 Jun 09; 17(1):123. PMID: 27282916.
      Citations: 1     Fields:    
    23. Mangold E, B?hmer AC, Ishorst N, Hoebel AK, G?ltepe P, Schuenke H, Klamt J, Hofmann A, G?lz L, Raff R, Tessmann P, Nowak S, Reutter H, Hemprich A, Kreusch T, Kramer FJ, Braumann B, Reich R, Schmidt G, J?ger A, Reiter R, Brosch S, Stavusis J, Ishida M, Seselgyte R, Moore GE, N?then MM, Borck G, Aldhorae KA, Lace B, Stanier P, Knapp M, Ludwig KU. Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. Am J Hum Genet. 2016 Apr 07; 98(4):755-62. PMID: 27018475.
      Citations: 46     Fields:    Translation:Humans
    24. Mendioroz M, Do C, Jiang X, Liu C, Darbary HK, Lang CF, Lin J, Thomas A, Abu-Amero S, Stanier P, Temkin A, Yale A, Liu MM, Li Y, Salas M, Kerkel K, Capone G, Silverman W, Yu YE, Moore G, Wegiel J, Tycko B. Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models. Genome Biol. 2015 Nov 25; 16:263. PMID: 26607552.
      Citations: 42     Fields:    Translation:HumansAnimalsCells
    25. Demetriou C, Abu-Amero S, White S, Peskett E, Markoff A, Stanier P, Moore GE, Regan L. Investigation of the Annexin A5 M2 haplotype in 500 white European couples who have experienced recurrent spontaneous abortion. Reprod Biomed Online. 2015 Nov; 31(5):681-8. PMID: 26371709.
      Citations: 6     Fields:    Translation:HumansCells
    26. Moore GE, Ishida M, Demetriou C, Al-Olabi L, Leon LJ, Thomas AC, Abu-Amero S, Frost JM, Stafford JL, Chaoqun Y, Duncan AJ, Baigel R, Brimioulle M, Iglesias-Platas I, Apostolidou S, Aggarwal R, Whittaker JC, Syngelaki A, Nicolaides KH, Regan L, Monk D, Stanier P. The role and interaction of imprinted genes in human fetal growth. Philos Trans R Soc Lond B Biol Sci. 2015 Mar 05; 370(1663):20140074. PMID: 25602077.
      Citations: 65     Fields:    Translation:Humans
    27. Thomas AC, Williams H, Set?-Salvia N, Bacchelli C, Jenkins D, O'Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C, Lescai F, Anderson G, Morrogh D, Ryten M, Duncan AJ, Pai YJ, Saraiva JM, Ramos F, Farren B, Saunders D, Vernay B, Gissen P, Straatmaan-Iwanowska A, Baas F, Wood NW, Hersheson J, Houlden H, Hurst J, Scott R, Bitner-Glindzicz M, Moore GE, Sousa SB, Stanier P. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):611-21. PMID: 25439728.
      Citations: 54     Fields:    Translation:HumansCells
    28. Murdoch JN, Damrau C, Paudyal A, Bogani D, Wells S, Greene ND, Stanier P, Copp AJ. Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice. Dis Model Mech. 2014 Oct; 7(10):1153-63. PMID: 25128525.
      Citations: 49     Fields:    Translation:Animals
    29. Set?-Salvia N, Stanier P. Genetics of cleft lip and/or cleft palate: association with other common anomalies. Eur J Med Genet. 2014 Aug; 57(8):381-93. PMID: 24768816.
      Citations: 43     Fields:    Translation:HumansAnimals
    30. Demetriou C, Abu-Amero S, Thomas AC, Ishida M, Aggarwal R, Al-Olabi L, Leon LJ, Stafford JL, Syngelaki A, Peebles D, Nicolaides KH, Regan L, Stanier P, Moore GE. Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight. PLoS One. 2014; 9(1):e85454. PMID: 24454871.
      Citations: 21     Fields:    Translation:HumansCells
    31. Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlov? M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. Nat Genet. 2014 Jan; 46(1):70-6. PMID: 24241535.
      Citations: 41     Fields:    Translation:HumansAnimalsCells
    32. Lescai F, Marasco E, Bacchelli C, Stanier P, Mantovani V, Beales P. Identification and validation of loss of function variants in clinical contexts. Mol Genet Genomic Med. 2014 Jan; 2(1):58-63. PMID: 24498629.
      Citations: 10     Fields:    
    33. Copp AJ, Stanier P, Greene ND. Neural tube defects: recent advances, unsolved questions, and controversies. Lancet Neurol. 2013 Aug; 12(8):799-810. PMID: 23790957.
      Citations: 219     Fields:    Translation:HumansAnimals
    34. Robinson A, Partridge D, Malhas A, De Castro SC, Gustavsson P, Thompson DN, Vaux DJ, Copp AJ, Stanier P, Bassuk AG, Greene ND. Is LMNB1 a susceptibility gene for neural tube defects in humans? Birth Defects Res A Clin Mol Teratol. 2013 Jun; 97(6):398-402. PMID: 23733478.
      Citations: 9     Fields:    Translation:HumansCells
    35. 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. Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. J Invest Dermatol. 2013 Sep; 133(9):2229-36. PMID: 23392294.
      Citations: 84     Fields:    Translation:HumansCells
    36. Moore GE, Stanier P. Fat dads must not be blamed for their children's health problems. BMC Med. 2013 Feb 06; 11:30. PMID: 23388448.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    37. Thomas AC, Frost JM, Ishida M, Vargha-Khadem F, Moore GE, Stanier P. The speech gene FOXP2 is not imprinted. J Med Genet. 2012 Nov; 49(11):669-70. PMID: 23033221.
      Citations: 4     Fields:    Translation:Humans
    38. Stanier P, Pauws E. Development of the lip and palate: FGF signalling. Front Oral Biol. 2012; 16:71-80. PMID: 22759671.
      Citations: 27     Fields:    Translation:HumansCells
    39. 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. Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development. J Invest Dermatol. 2012 Aug; 132(8):2026-32. PMID: 22572819.
      Citations: 19     Fields:    Translation:Humans
    40. Carta E, Pauws E, Thomas AC, Mengrelis K, Moore GE, Lees M, Stanier P. Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate. Birth Defects Res A Clin Mol Teratol. 2012 Jun; 94(6):459-63. PMID: 22492558.
      Citations: 1     Fields:    Translation:Humans
    41. Ishida M, Monk D, Duncan AJ, Abu-Amero S, Chong J, Ring SM, Pembrey ME, Hindmarsh PC, Whittaker JC, Stanier P, Moore GE. Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight. Am J Hum Genet. 2012 Apr 06; 90(4):715-9. PMID: 22444668.
      Citations: 21     Fields:    Translation:HumansCells
    42. Robinson A, Escuin S, Doudney K, Vekemans M, Stevenson RE, Greene ND, Copp AJ, Stanier P. Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat. 2012 Feb; 33(2):440-7. PMID: 22095531.
      Citations: 89     Fields:    Translation:HumansAnimalsCells
    43. Narisawa A, Komatsuzaki S, Kikuchi A, Niihori T, Aoki Y, Fujiwara K, Tanemura M, Hata A, Suzuki Y, Relton CL, Grinham J, Leung KY, Partridge D, Robinson A, Stone V, Gustavsson P, Stanier P, Copp AJ, Greene ND, Tominaga T, Matsubara Y, Kure S. Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans. Hum Mol Genet. 2012 Apr 01; 21(7):1496-503. PMID: 22171071.
      Citations: 58     Fields:    Translation:HumansAnimals
    44. Greene ND, Stanier P, Moore GE. The emerging role of epigenetic mechanisms in the etiology of neural tube defects. Epigenetics. 2011 Jul; 6(7):875-83. PMID: 21613818.
      Citations: 36     Fields:    Translation:HumansAnimalsCells
    45. 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. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet. 2011 Mar; 43(3):197-203. PMID: 21258343.
      Citations: 100     Fields:    Translation:Animals
    46. Frost J, Monk D, Moschidou D, Guillot PV, Stanier P, Minger SL, Fisk NM, Moore HD, Moore GE. The effects of culture on genomic imprinting profiles in human embryonic and fetal mesenchymal stem cells. Epigenetics. 2011 Jan; 6(1):52-62. PMID: 20864803.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    47. Frost JM, Monk D, Stojilkovic-Mikic T, Woodfine K, Chitty LS, Murrell A, Stanier P, Moore GE. Evaluation of allelic expression of imprinted genes in adult human blood. PLoS One. 2010 Oct 21; 5(10):e13556. PMID: 21042416.
      Citations: 17     Fields:    Translation:Humans
    48. 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, Tavar? S, Moore GE, Dunham I. High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta. BMC Genet. 2010 Apr 19; 11:25. PMID: 20403199.
      Citations: 34     Fields:    Translation:Humans
    49. Abu-Amero S, Wakeling EL, Preece M, Whittaker J, Stanier P, Moore GE. Epigenetic signatures of Silver-Russell syndrome. J Med Genet. 2010 Mar; 47(3):150-4. PMID: 20305090.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    50. Greene ND, Stanier P, Copp AJ. Genetics of human neural tube defects. Hum Mol Genet. 2009 Oct 15; 18(R2):R113-29. PMID: 19808787.
      Citations: 134     Fields:    Translation:HumansAnimals
    51. Pauws E, Hoshino A, Bentley L, Prajapati S, Keller C, Hammond P, Martinez-Barbera JP, Moore GE, Stanier P. Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes. Hum Mol Genet. 2009 Nov 01; 18(21):4171-9. PMID: 19648291.
      Citations: 47     Fields:    Translation:HumansAnimalsCells
    52. Monk D, Arnaud P, Frost J, Hills FA, Stanier P, Feil R, Moore GE. Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expression. Hum Mol Genet. 2009 Aug 15; 18(16):3066-74. PMID: 19487367.
      Citations: 33     Fields:    Translation:HumansCells
    53. Liu W, Lan Y, Pauws E, Meester-Smoor MA, Stanier P, Zwarthoff EC, Jiang R. The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice. Development. 2008 Dec; 135(23):3959-68. PMID: 18948418.
      Citations: 39     Fields:    Translation:AnimalsCells
    54. Monk D, Wagschal A, Arnaud P, M?ller PS, Parker-Katiraee L, Bourc'his D, Scherer SW, Feil R, Stanier P, Moore GE. 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 Res. 2008 Aug; 18(8):1270-81. PMID: 18480470.
      Citations: 42     Fields:    Translation:HumansAnimalsCells
    55. Pauws E, Stanier P. FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate. Trends Genet. 2007 Dec; 23(12):631-40. PMID: 17981355.
      Citations: 24     Fields:    Translation:HumansCells
    56. Gustavsson P, Greene ND, Lad D, Pauws E, de Castro SC, Stanier P, Copp AJ. Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model. Hum Mol Genet. 2007 Nov 01; 16(21):2640-6. PMID: 17720888.
      Citations: 45     Fields:    Translation:AnimalsCells
    57. Andreou AM, Pauws E, Jones MC, Singh MK, Bussen M, Doudney K, Moore GE, Kispert A, Brosens JJ, Stanier P. TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression. Am J Hum Genet. 2007 Oct; 81(4):700-12. PMID: 17846996.
      Citations: 35     Fields:    Translation:HumansAnimalsCells
    58. Dunlevy LP, Chitty LS, Burren KA, Doudney K, Stojilkovic-Mikic T, Stanier P, Scott R, Copp AJ, Greene ND. Abnormal folate metabolism in foetuses affected by neural tube defects. Brain. 2007 Apr; 130(Pt 4):1043-9. PMID: 17438019.
      Citations: 30     Fields:    Translation:HumansAnimalsCells
    59. 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. STOX1 is not imprinted and is not likely to be involved in preeclampsia. Nat Genet. 2007 Mar; 39(3):279-80; author reply 280-1. PMID: 17325670.
      Citations: 17     Fields:    Translation:HumansCells
    60. Zhou H, Brockington M, Jungbluth H, Monk D, Stanier P, Sewry CA, Moore GE, Muntoni F. Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. Am J Hum Genet. 2006 Nov; 79(5):859-68. PMID: 17033962.
      Citations: 44     Fields:    Translation:HumansAnimalsCells
    61. Doudney K, Stanier P. Epithelial cell polarity genes are required for neural tube closure. Am J Med Genet C Semin Med Genet. 2005 May 15; 135C(1):42-7. PMID: 15800847.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
    62. Stanier P, Moore GE. Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts. Hum Mol Genet. 2004 Apr 01; 13 Spec No 1:R73-81. PMID: 14722155.
      Citations: 123     Fields:    Translation:Humans
    63. Monk D, Smith R, Arnaud P, Preece MA, Stanier P, Beechey CV, Peters J, Kelsey G, Moore GE. Imprinted methylation profiles for proximal mouse chromosomes 11 and 7 as revealed by methylation-sensitive representational difference analysis. Mamm Genome. 2003 Dec; 14(12):805-16. PMID: 14724735.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    64. Curtin JA, Quint E, Tsipouri V, Arkell RM, Cattanach B, Copp AJ, Henderson DJ, Spurr N, Stanier P, Fisher EM, Nolan PM, Steel KP, Brown SD, Gray IC, Murdoch JN. Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. Curr Biol. 2003 Jul 01; 13(13):1129-33. PMID: 12842012.
      Citations: 261     Fields:    Translation:AnimalsCells
    65. Arnaud P, Monk D, Hitchins M, Gordon E, Dean W, Beechey CV, Peters J, Craigen W, Preece M, Stanier P, Moore GE, Kelsey G. Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark. Hum Mol Genet. 2003 May 01; 12(9):1005-19. PMID: 12700169.
      Citations: 61     Fields:    Translation:HumansAnimalsCells
    66. Murdoch JN, Henderson DJ, Doudney K, Gaston-Massuet C, Phillips HM, Paternotte C, Arkell R, Stanier P, Copp AJ. Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse. Hum Mol Genet. 2003 Jan 15; 12(2):87-98. PMID: 12499390.
      Citations: 131     Fields:    Translation:AnimalsCells
    67. Murdoch JN, Doudney K, Gerrelli D, Wortham N, Paternotte C, Stanier P, Copp AJ. Genomic organization and embryonic expression of Igsf8, an immunoglobulin superfamily member implicated in development of the nervous system and organ epithelia. Mol Cell Neurosci. 2003 Jan; 22(1):62-74. PMID: 12595239.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    68. Hitchins MP, Bentley L, Monk D, Beechey C, Peters J, Kelsey G, Ishino F, Preece MA, Stanier P, Moore GE. DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed. Mamm Genome. 2002 Dec; 13(12):686-91. PMID: 12514746.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    69. Braybrook C, Lisgo S, Doudney K, Henderson D, Mar?ano AC, Strachan T, Patton MA, Villard L, Moore GE, Stanier P, Lindsay S. Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. Hum Mol Genet. 2002 Oct 15; 11(22):2793-804. PMID: 12374769.
      Citations: 31     Fields:    Translation:HumansAnimalsCells
    70. Monk D, Bentley L, Hitchins M, Myler RA, Clayton-Smith J, Ismail S, Price SM, Preece MA, Stanier P, Moore GE. Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. Hum Genet. 2002 Oct; 111(4-5):376-87. PMID: 12384779.
      Citations: 20     Fields:    Translation:HumansCells
    71. Nakabayashi K, Bentley L, Hitchins MP, Mitsuya K, Meguro M, Minagawa S, Bamforth JS, Stanier P, Preece M, Weksberg R, Oshimura M, Moore GE, Scherer SW. Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32. Hum Mol Genet. 2002 Jul 15; 11(15):1743-56. PMID: 12095916.
      Citations: 15     Fields:    Translation:HumansCells
    72. Rogner UC, Danoy P, Matsuda F, Moore GE, Stanier P, Avner P. SNPs in the CpG island of NAP1L2: a possible link between DNA methylation and neural tube defects? Am J Med Genet. 2002 Jul 01; 110(3):208-14. PMID: 12116227.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    73. Doudney K, Murdoch JN, Braybrook C, Paternotte C, Bentley L, Copp AJ, Stanier P. Cloning and characterization of Igsf9 in mouse and human: a new member of the immunoglobulin superfamily expressed in the developing nervous system. Genomics. 2002 May; 79(5):663-70. PMID: 11991715.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
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