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Number of items: 37.
Article
Alvizi, L;
Ke, X;
Brito, LA;
Seselgyte, R;
Moore, GE;
Stanier, P;
Passos-Bueno, MR;
(2017)
Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects.
Scientific Reports
, 7
, Article 244. 10.1038/s41598-017-02721-0.
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Bryant, D;
Liu, Y;
Datta, S;
Hariri, H;
Seda, M;
Anderson, G;
Peskett, E;
... Stanier, PM; + view all
(2018)
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
Human Molecular Genetics
, 27
(11)
pp. 1927-1940.
10.1093/hmg/ddy101.
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Bryant, D;
Seda, M;
Peskett, E;
Maurer, C;
Pomeranz, G;
Ghosh, M;
Hawkins, TA;
... Stanier, P; + view all
(2020)
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
Scientific Reports
, 10
(1)
, Article 13763. 10.1038/s41598-020-70797-2.
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Casanova, MA;
Monteagudo-Sánchez, A;
Guerineau, LR;
Court, F;
Serrano, IG;
Martorell, L;
Zurriaga, CR;
... Hernando, JM; + view all
(2017)
Maternal mutations of FOXF1 cause Alveolar capillary dysplasia despite not being imprinted.
Human Mutation
, 38
(6)
pp. 615-620.
10.1002/humu.23213.
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Cottrell, E;
Cabrera, CP;
Ishida, M;
Chatterjee, S;
Greening, J;
Wright, N;
Bossowski, A;
... Storr, HL; + view all
(2020)
Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.
European Journal of Endocrinology
, 183
(6)
pp. 581-595.
10.1530/EJE-20-0474.
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Daelemans, C;
Ritchie, ME;
Smits, G;
Abu-Amero, S;
Sudbery, IM;
Forrest, MS;
Campino, S;
... Dunham, I; + view all
(2010)
High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.
BMC Genetics
, 11
, Article 25. 10.1186/1471-2156-11-25.
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Demetriou, C;
Abu-Amero, S;
Thomas, AC;
Ishida, M;
Aggarwal, R;
Al-Olabi, L;
Leon, LJ;
... Moore, GE; + view all
(2014)
Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight.
PLoS One
, 9
(1)
, Article e85454. 10.1371/journal.pone.0085454.
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Demetriou, C;
Chanudet, E;
GOSgene, .;
Joseph, A;
Topf, M;
Thomas, AC;
Bitner-Glindzicz, M;
... Moore, GE; + view all
(2019)
Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans.
Human Molecular Genetics
, 28
(20)
pp. 3466-3474.
10.1093/hmg/ddz203.
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Derakhshan, Maria;
Kessler, Noah J;
Ishida, Miho;
Demetriou, Charalambos;
Brucato, Nicolas;
Moore, Gudrun E;
Fall, Caroline HD;
... Silver, Matt J; + view all
(2022)
Tissue- and ethnicity-independent hypervariable DNA methylation states show evidence of establishment in the early human embryo.
Nucleic Acids Research
, Article gkac503. 10.1093/nar/gkac503.
(In press).
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Frost, JM;
Monk, D;
Stojilkovic-Mikic, T;
Woodfine, K;
Chitty, LS;
Murrell, A;
Stanier, P;
(2010)
Evaluation of allelic expression of imprinted genes in adult human blood.
PLoS One
, 5
(10)
, Article e13556. 10.1371/journal.pone.0013556.
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Frost, JM;
Moore, GE;
(2010)
The importance of imprinting in the human placenta.
PLoS Genetics
, 6
(7)
, Article e1001015. 10.1371/journal.pgen.1001015.
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Frost, JM;
Udayashankar, R;
Moore, HD;
Moore, GE;
(2010)
Telomeric NAP1L4 and OSBPL5 of the KCNQ1 cluster, and the DECORIN gene are not imprinted in human trophoblast stem cells.
PLOS One
, 5
(7)
, Article e11595. 10.1371/journal.pone.0011595.
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Ishida, M;
Cullup, T;
Boustred, C;
James, C;
Docker, J;
English, C;
GOSgene, .;
... Stanier, PM; + view all
(2018)
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.
Clinical Genetics
, 93
(4)
pp. 870-879.
10.1111/cge.13189.
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Ishida, M;
Monk, D;
Duncan, AJ;
Abu-Amero, S;
Chong, J;
Ring, SM;
Pembrey, ME;
... Moore, GE; + view all
(2012)
Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight.
The American Journal of Human Genetics
, 90
(4)
715 - 719.
10.1016/j.ajhg.2012.02.021.
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Kantaputra, PN;
Paramee, M;
Kaewkhampa, A;
Hoshino, A;
Lees, M;
McEntagart, M;
Masrour, N;
... Stanier, P; + view all
(2011)
Cleft Lip with Cleft Palate, Ankyloglossia, and Hypodontia are Associated with TBX22 Mutations.
J DENT RES
, 90
(4)
450 - 455.
10.1177/0022034510391052.
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Kinsler, VA;
Thomas, AC;
Ishida, M;
Bulstrode, NW;
Loughlin, S;
Hing, S;
Chalker, J;
... Moore, GE; + view all
(2013)
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.
Journal of Investigative Dermatology
, 133
(9)
pp. 2229-2236.
10.1038/jid.2013.70.
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Leon, LJ;
Doyle, R;
Diez-Benavente, E;
Clark, TG;
Klein, N;
Stanier, P;
Moore, GE;
(2018)
Enrichment of clinically relevant organisms in spontaneous preterm delivered placenta and reagent contamination across all clinical groups in a large UK pregnancy cohort.
Applied and Environmental Microbiology
, 84
(14)
10.1128/AEM.00483-18.
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Leon, LJ;
Solanky, N;
Stalman, SE;
Demetriou, C;
Abu-Amero, S;
Stanier, P;
Regan, L;
(2016)
A new biological and clinical resource for research into pregnancy complications: The Baby Bio Bank.
Placenta
, 46
pp. 31-37.
10.1016/j.placenta.2016.08.085.
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Lokulo-Sodipe, O;
Ballard, L;
Child, J;
Inskip, HM;
Byrne, CD;
Ishida, M;
Moore, GE;
... Temple, IK; + view all
(2020)
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.
Journal of Medical Genetics
10.1136/jmedgenet-2019-106561.
(In press).
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Mangold, E;
Böhmer, AC;
Ishorst, N;
Hoebel, AK;
Gültepe, P;
Schuenke, H;
Klamt, J;
... Ludwig, KU; + view all
(2016)
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
American Journal of Human Genetics
, 98
(4)
pp. 755-762.
10.1016/j.ajhg.2016.02.013.
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Mendioroz, M;
Do, C;
Jiang, X;
Liu, C;
Darbary, HK;
Lang, CF;
Lin, J;
... Tycko, B; + view all
(2015)
Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models.
Genome Biology
, 16
, Article 263. 10.1186/s13059-015-0827-6.
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Moore, GE;
Ishida, M;
Demetriou, C;
Al-Olabi, L;
Leon, LJ;
Thomas, AC;
Abu-Amero, S;
... Stanier, P; + view all
(2015)
The role and interaction of imprinted genes in human fetal growth.
Philos Trans R Soc Lond B Biol Sci
, 370
(1663)
, Article 20140074 . 10.1098/rstb.2014.0074.
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Moore, GE;
Stanier, P;
(2013)
Fat dads must not be blamed for their children's health problems.
BMC Medicine
, 11
, Article 30. 10.1186/1741-7015-11-30.
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Padidela, R;
Bryan, SM;
Abu-Amero, S;
Hudson-Davies, RE;
Achermann, JC;
Moore, GE;
Hindmarsh, PC;
(2012)
The growth hormone receptor gene deleted for exon three (GHRd3) polymorphism is associated with birth and placental weight.
Clinical Endocrinology
, 76
(2)
236 - 240.
10.1111/j.1365-2265.2011.04207.x.
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Pauws, E;
Hoshino, A;
Bentley, L;
Prajapati, S;
Keller, C;
Hammond, P;
Martinez-Barbera, J-P;
... Stanier, P; + view all
(2009)
Tbx22(null) mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.
Human Molecular Genetics
, 18
(21)
pp. 4171-4179.
10.1093/hmg/ddp368.
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Polubothu, S;
Zecchin, D;
Al-Olabi, L;
Lionarons, DA;
Harland, M;
Horswell, S;
Thomas, AC;
... Kinsler, VA; + view all
(2021)
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Genetics in Medicine
10.1038/s41436-021-01204-y.
(In press).
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Savastano, CP;
Brito, LA;
Faria, ÁC;
Setó-Salvia, N;
Peskett, E;
Musso, CM;
Alvizi, L;
... Passos-Bueno, MR; + view all
(2017)
Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.
Clinical Genetics
, 91
(5)
pp. 683-689.
10.1111/cge.12823.
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Seda, M;
Peskett, E;
Demetriou, C;
Bryant, D;
Moore, G;
Stanier, P;
Jenkins, D;
(2019)
Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages.
Child Health Open Research
, 8
, Article 273. 10.12688/f1000research.17314.1.
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Seselgyte, R;
Bryant, D;
Demetriou, C;
Ishida, M;
Peskett, E;
Moreno, N;
Morrogh, D;
... Stanier, P; + view all
(2019)
Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family.
Journal of Dental Research
, 98
(6)
pp. 659-665.
10.1177/0022034519837245.
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Solanky, N;
Ishida, M;
Aléman-Charlet, C;
Abu-Amero, S;
Alders, M;
Alvizi, L;
Baird, W;
... Hennekam, RC; + view all
(2018)
Genetic Analyses in Small for Gestational Age Newborns.
Journal of Clinical Endocrinology and Metabolism
, 103
(3)
pp. 917-925.
10.1210/jc.2017-01843.
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Suntharalingham, Jenifer P;
Del Valle, Ignacio;
Buonocore, Federica;
McGlacken-Byrne, Sinead M;
Brooks, Tony;
Ogunbiyi, Olumide K;
Liptrot, Danielle;
... Achermann, John C; + view all
(2025)
The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.
Communications Biology
, 8
, Article 249. 10.1038/s42003-025-07699-4.
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Suntharalingham, JP;
Ishida, M;
Buonocore, F;
del Valle, I;
Solanky, N;
Demetriou, C;
Regan, L;
... Achermann, JC; + view all
(2019)
Analysis of CDKN1C in fetal growth restriction and pregnancy loss.
F1000Research
, 8
, Article 90. 10.12688/f1000research.15016.1.
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Thomas, AC;
Williams, H;
Seto-Salvia, N;
Bacchelli, C;
Jenkins, D;
O'Sullivan, M;
Mengrelis, K;
... Stanier, PM; + view all
(2014)
Mutations in SNX14 cause a distinctive autosomal recessive cerebellar ataxia and intellectual disability syndrome.
The American Journal of Human Genetics
, 95
(5)
pp. 611-621.
10.1016/j.ajhg.2014.10.007.
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Waelchi, R;
Williams, J;
Cole, T;
Dattani, M;
Hindmarsh, P;
Kennedy, H;
Martinez, A;
... Kinsler, V; + view all
(2015)
Growth and hormonal profiling in children with congenital melanocytic naevi.
British Journal of Dermatology
, 173
pp. 1471-1478.
10.1111/bjd.14091.
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Wakeling, EL;
Brioude, F;
Lokulo-Sodipe, O;
O'Connell, SM;
Salem, J;
Bliek, J;
Canton, APM;
... Netchine, I; + view all
(2016)
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Nature Reviews Endocrinology
, 13
(2)
pp. 105-124.
10.1038/nrendo.2016.138.
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Wood, AJ;
Roberts, RG;
Monk, D;
Moore, GE;
Schulz, R;
Oakey, RJ;
(2007)
A screen for retrotransposed imprinted genes reveals an association between X chromosome homology and maternal germ-line methylation.
PLoS Genetics
, 3
(2)
, Article e20. 10.1371/journal.pgen.0030020.
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Book chapter
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Stanier, PM;
Seselgyte, R;
Moore, GE;
Pauws, E;
(2018)
TBX22-Associated Syndrome.
In:
UNSPECIFIED
(In press).
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