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Number of items: 41.
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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Copp, AJ;
Stanier, P;
Greene, NDE;
(2013)
Neural tube defects: recent advances, unsolved questions, and controversies.
The Lancet Neurology
, 12
(8)
pp. 799-810.
10.1016/S1474-4422(13)70110-8.
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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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De Castro, SCP;
Gustavsson, P;
Marshall, AR;
Gordon, WM;
Galea, G;
Nikolopoulou, E;
Savery, D;
... Greene, NDE; + view all
(2018)
Over-expression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.
Human Molecular Genetics
, 27
(24)
pp. 4218-4230.
10.1093/hmg/ddy313.
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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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Fratta, P;
Sivakumar, P;
Humphrey, J;
Lo, K;
Ricketts, T;
Oliveira, H;
Brito-Armas, JM;
... Acevedo-Arozena, A; + view all
(2018)
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
EMBO Journal
, 2018
, Article e98684. 10.15252/embj.201798684.
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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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Goos, JAC;
Swagemakers, SMA;
Twigg, SRF;
van Dooren, MF;
Hoogeboom, AJM;
Beetz, C;
Günther, S;
... Hurst, J; + view all
(2017)
Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia.
European Journal of Human Genetics
, 25
pp. 1126-1133.
10.1038/ejhg.2017.107.
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Greene, N. D.E.;
Stanier, P.;
Copp, A. J.;
(2009)
Genetics of human neural tube defects.
Human Molecular Genetics
, 18
(R2)
R113-R129.
10.1093/hmg/ddp347.
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Howe, LJ;
Richardson, TG;
Arathimos, R;
Alvizi, L;
Passos-Bueno, M-R;
Stanier, PM;
Nohr, E;
... Sharp, GC; + view all
(2019)
Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate.
Epigenomics
10.2217/epi-2018-0091.
(In press).
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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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Lee, KKL;
Peskett, E;
Quinn, CM;
Aiello, R;
Adeeva, L;
Moulding, DA;
Stanier, P;
(2018)
Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse.
Disease Models & Mechanisms
10.1242/dmm.035311.
(In press).
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Lee, KKL;
Stanier, P;
Pauws, E;
(2018)
Mouse Models of Syndromic Craniosynostosis.
Molecular Syndromology
, 10
pp. 58-73.
10.1159/000491004.
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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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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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Muggenthaler, MM;
Chowdhury, B;
Hasan, SN;
Cross, HE;
Mark, B;
Harlalka, GV;
Patton, MA;
... Chioza, BA; + view all
(2017)
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
PLoS Genetics
, 13
(1)
, Article e1006470. 10.1371/journal.pgen.1006470.
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Murdoch, JN;
Damrau, C;
Paudyal, A;
Bogani, D;
Wells, S;
Greene, ND;
Stanier, P;
(2014)
Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice.
Dis Model Mech
, 7
(10)
1153 - 1163.
10.1242/dmm.016758.
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Nychyk, O;
Galea, GL;
Molè, M;
Savery, D;
Greene, NDE;
Stanier, P;
Copp, AJ;
(2021)
Vangl2-environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension.
Disease Models & Mechanisms
10.1242/dmm.049194.
(In press).
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Orriss, IR;
Lanham, S;
Savery, D;
Greene, NDE;
Stanier, P;
Oreffo, R;
Copp, AJ;
(2018)
Spina bifida-predisposing heterozygous mutations in Planar Cell Polarity genes and Zic2 reduce bone mass in young mice.
Scientific Reports
, 8
, Article 3325. 10.1038/s41598-018-21718-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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Piard, J;
Lespinasse, J;
Vlckova, M;
Mensah, MA;
Lurian, S;
Simandlova, M;
Malikova, M;
... Van Maldergem, L; + view all
(2018)
Cutis Laxa and Excessive Bone Growth due to de novo mutations in PTDSS1.
American Journal of Medical Genetics Part A
, 176A
pp. 668-675.
10.1002/ajmg.a.38604.
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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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Renaud, M;
Tranchant, C;
Torres Martin, JV;
Mochel, F;
Synofzik, M;
van de Warrenburg, B;
Pandolfo, M;
... the Working Group, RADIAL; + view all
(2017)
Recessive Ataxia Diagnosis Algorithm for the Next Generation Sequencing Era.
Annals of Neurology
, 82
(6)
pp. 892-899.
10.1002/ana.25084.
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Robinson, A;
Partridge, D;
Malhas, A;
De Castro, SC;
Gustavsson, P;
Thompson, DN;
Vaux, DJ;
... Greene, ND; + view all
(2013)
Is LMNB1 a susceptibility gene for neural tube defects in humans?
Birth Defects Research Part A: Clinical and Molecular Teratology
, 97
(6)
pp. 398-402.
10.1002/bdra.23141.
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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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Sommerlad, B;
Seselgyte, R;
Lees, M;
Pauws, E;
Stanier, P;
Sell, D;
(2019)
Familial absent uvula with velopharyngeal incompetence - a new syndrome?
The Cleft Palate-Craniofacial Journal
10.1177/1055665619880401.
(In press).
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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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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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