Philippe Stanier to Humans
This is a "connection" page, showing publications Philippe Stanier has written about Humans.
Connection Strength
0.447
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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.
Score: 0.027
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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.
Score: 0.023
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Pauws E, Stanier P. Sumoylation in Craniofacial Disorders. Adv Exp Med Biol. 2017; 963:323-335.
Score: 0.021
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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.
Score: 0.019
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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.
Score: 0.018
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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.
Score: 0.017
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Moore GE, Stanier P. Fat dads must not be blamed for their children's health problems. BMC Med. 2013 Feb 06; 11:30.
Score: 0.016
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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.
Score: 0.016
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Stanier P, Pauws E. Development of the lip and palate: FGF signalling. Front Oral Biol. 2012; 16:71-80.
Score: 0.015
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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.
Score: 0.015
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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.
Score: 0.015
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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.
Score: 0.013
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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.
Score: 0.011
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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.
Score: 0.011
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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.
Score: 0.009
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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.
Score: 0.009
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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.
Score: 0.008
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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.
Score: 0.007
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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.
Score: 0.006
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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.
Score: 0.006
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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.
Score: 0.006
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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.
Score: 0.006
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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.
Score: 0.006
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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).
Score: 0.006
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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).
Score: 0.006
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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).
Score: 0.006
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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.
Score: 0.006
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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.
Score: 0.006
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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.
Score: 0.005
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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.
Score: 0.005
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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.
Score: 0.005
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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.
Score: 0.005
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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.
Score: 0.005
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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.
Score: 0.005
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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.
Score: 0.005
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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.
Score: 0.004
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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.
Score: 0.004
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Copp AJ, Stanier P, Greene ND. Neural tube defects: recent advances, unsolved questions, and controversies. Lancet Neurol. 2013 Aug; 12(8):799-810.
Score: 0.004
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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.
Score: 0.004
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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.
Score: 0.004
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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.
Score: 0.004
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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.
Score: 0.004
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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.
Score: 0.004
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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.
Score: 0.004
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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.
Score: 0.003
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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.
Score: 0.003
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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.
Score: 0.003
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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.
Score: 0.003
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Greene ND, Stanier P, Copp AJ. Genetics of human neural tube defects. Hum Mol Genet. 2009 Oct 15; 18(R2):R113-29.
Score: 0.003
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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.
Score: 0.003
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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.
Score: 0.003
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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.
Score: 0.003
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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.
Score: 0.003
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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.
Score: 0.003
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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.
Score: 0.002
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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.
Score: 0.002
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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.
Score: 0.002
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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.
Score: 0.002
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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.
Score: 0.002
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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.
Score: 0.002
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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.
Score: 0.002
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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.
Score: 0.002