P. Stanier

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Atlas of Genetics and Cytogenetics in Oncology and Haematology

K. Ntzeros, P. Stanier, D. Mazis, 2015 .

Genetics of human neural tube defects

Andrew J. Copp, Philip Stanier, Nicholas D.E. Greene, 2009, Human molecular genetics.

Genome-wide methylation analysis in Silver–Russell syndrome patients

P. Stanier, W. Puszyk, R. Oakey, 2015, Human Genetics.

Genetic Basis of Neural Tube Defects

N. Greene, A. Copp, P. Stanier, 2020 .

Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages

D. Jenkins, P. Stanier, G. Moore, 2019, F1000Research.

Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate

S. Lewis, G. Smith, M. Passos-Bueno, 2019, Epigenomics.

DNA methylation mediates genetic liability to non-syndromic cleft lip/palate

S. Lewis, B. St Pourcain, M. Passos-Bueno, 2018, bioRxiv.

Genetics of cleft lip and/or cleft palate: association with other common anomalies.

P. Stanier, N. Setó-Salvia, 2014, European journal of medical genetics.

Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS

N. Sebire, E. Healy, V. Kinsler, 2013, The Journal of investigative dermatology.

Paternally Expressed, Imprinted Insulin-Like Growth Factor-2 in Chorionic Villi Correlates Significantly with Birth Weight

K. Nicolaides, D. Peebles, P. Stanier, 2013, PloS one.

An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands

P. Stanier, K. Abu-Amero, M. Preece, 1999, Journal of medical genetics.

High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta

Matthew E. Ritchie, P. Deloukas, S. Tavaré, 2010, BMC Genetics.

Sumoylation in Craniofacial Disorders.

P. Stanier, E. Pauws, 2009, Advances in experimental medicine and biology.

Genetic Analyses in Small-for-Gestational-Age Newborns

R. Hennekam, J. Wit, N. Solanky, 2018, The Journal of clinical endocrinology and metabolism.

Sequence and expression analysis of Nhlh1: a basic helix-loop-helix gene implicated in neurogenesis.

A. Copp, P. Stanier, N. Leblond-Bourget, 1999, Developmental genetics.

Spina bifida-predisposing heterozygous mutations in Planar Cell Polarity genes and Zic2 reduce bone mass in young mice

N. Greene, A. Copp, P. Stanier, 2018, Scientific Reports.

Fat dads must not be blamed for their children's health problems

P. Stanier, G. Moore, 2013, BMC Medicine.

Silver-Russell syndrome and ring chromosome 7

M. Preece, P. Stanier, D. Monk, 2000, Journal of medical genetics.

SIMPLE NON-INVASIVE METHOD TO OBTAIN DNA FOR GENE ANALYSIS

R. Williamson, P. Stanier, N. Lench, 1988, The Lancet.

articleHigh-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta

Matthew E. Ritchie, P. Deloukas, S. Tavaré, 2019 .

Epigenetic signatures of Silver–Russell syndrome

J. Whittaker, M. Preece, P. Stanier, 2010, Journal of Medical Genetics.

Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations

Thomas A. Hawkins, M. Bitner-Glindzicz, J. Rihel, 2019, Scientific Reports.

Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects

J. Whittaker, N. Greene, A. Copp, 2009, American journal of medical genetics. Part A.

Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice

S. Wells, N. Greene, A. Copp, 2014, Disease Models & Mechanisms.

Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome

G. Bell, P. Stanier, D. Monk, 2001, European Journal of Human Genetics.

Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues

P. Stanier, E. Wakeling, G. Moore, 1998, European Journal of Human Genetics.

A new biological and clinical resource for research into pregnancy complications: The Baby Bio Bank

N. Solanky, P. Stanier, L. Regan, 2016, Placenta.

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

E. Behr, H. Cross, M. Patton, 2017, PLoS genetics.

Conflicting reports of imprinting status of human GRB10 in developing brain: how reliable are somatic cell hybrids for predicting allelic origin of expression?

S. Apostolidou, H. Ropers, T. Eggermann, 2001, American journal of human genetics.

Imprinted genes and their role in human fetal growth

S. Apostolidou, P. Stanier, D. Monk, 2006, Cytogenetic and Genome Research.

Investigation of the GRB2, GRB7, and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q

S. Apostolidou, M. Preece, P. Stanier, 2002, Journal of medical genetics.

Investigation of the GRB 2 , GRB 7 , and CSH 1 genes as candidates for the Silver-Russell syndrome ( SRS ) on chromosome 17 q

S. Apostolidou, M. Preece, P. Stanier, 2002 .

Vangl2–environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension

N. Greene, A. Copp, P. Stanier, 2021, Disease models & mechanisms.

Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model.

N. Greene, A. Copp, P. Stanier, 2007, Human molecular genetics.

BIROn - Birkbeck Institutional Research Online identiﬁes variants in that are associated with fetal loss

M. Bitner-Glindzicz, A. Joseph, P. Stanier, 2020 .

Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans.

M. Bitner-Glindzicz, M. Topf, A. Joseph, 2019, Human molecular genetics.

Physical and transcriptional map of a 3-Mb region of mouse chromosome 1 containing the gene for the neural tube defect mutant loop-tail (Lp).

A. Copp, P. Stanier, J. Eddleston, 1999, Genomics.

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.

F. Muntoni, Haiyan Zhou, P. Stanier, 2006, American journal of human genetics.

Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice

N. Greene, B. Andersen, A. Copp, 2018, Human molecular genetics.

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

N. Greene, A. Copp, C. Relton, 2011, Human molecular genetics.

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

R. Stevenson, N. Greene, A. Copp, 2012, Human mutation.

Analysis of the planar cell polarity gene Vangl2 and its co‐expressed paralogue Vangl1 in neural tube defect patients

R. Stevenson, N. Greene, A. Copp, 2005, American journal of medical genetics. Part A.

The search for the gene for Silver‐Russell syndrome

M. Preece, P. Stanier, D. Monk, 1999, Acta paediatrica (Oslo, Norway : 1992). Supplement.

The effects of culture on genomic imprinting profiles in human embryonic and fetal mesenchymal stem cells

P. Stanier, D. Monk, N. Fisk, 2011, Epigenetics.

Molecular cloning and characterization of a highly conserved human 67-kDa laminin receptor pseudogene mapping to Xq21.3.

P. Stanier, G. Moore, C. Braybrook, 1998, Gene.

Identification and validation of loss of function variants in clinical contexts

P. Beales, F. Lescai, C. Bacchelli, 2013, Molecular genetics & genomic medicine.

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.

S. Scherer, D. Bourc’his, P. Stanier, 2008, Genome research.

DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed

G. Kelsey, P. Stanier, D. Monk, 2002, Mammalian Genome.

Author and Subject Index

P. Czernichow, S. Bernasconi, R. Trembath, 1998, Hormone Research in Paediatrics.

Neonatal buccal cell collection for DNA analysis

N. Modi, P. Stanier, G. Moore, 2005, Archives of Disease in Childhood - Fetal and Neonatal Edition.

Severe neural tube defects due to failure of closure initiation can arise without abnormality of neuroepithelial convergent extension

N. Greene, A. Copp, P. Stanier, 2021, bioRxiv.

Linkage mapping of Lims1l, the murine homolog of the human LIM domain gene PINCH, to mouse Chromosome 10

A. Copp, P. Stanier, J. Eddleston, 1998, Cytogenetic and Genome Research.

Expression of CYP2E1 during human fetal development: methylation of the CYP2E1 gene in human fetal and adult liver samples.

A. Boobis, P. Stanier, G. Moore, 1992, Biochemical pharmacology.

Characterisation of the growth regulating gene IMP3, a candidate for Silver-Russell syndrome

M. Preece, P. Stanier, D. Monk, 2002, Journal of medical genetics.

Genome-wide methylation analysis in Silver–Russell syndrome patients

P. Stanier, W. Puszyk, R. Oakey, 2015, Human Genetics.

An analysis of common isodisomic regions in five mUPD 16 probands

P. Stanier, K. Abu-Amero, G. Moore, 1999, Journal of medical genetics.

A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia

P. Stanier, G. Moore, E. Pauws, 2009, Journal of Medical Genetics.

TBX22 mutations are a frequent cause of cleft palate

M. Patton, J. Murray, A. Richieri‐Costa, 2004, Journal of Medical Genetics.

A common polymorphism in exon 16 of the human insulin-like growth factor-1 receptor gene (IGF1R).

P. Stanier, M. Preece, E. Wakeling, 1997, Molecular and Cellular Probes.

Neural tube defects: recent advances, unsolved questions, and controversies

N. Greene, A. Copp, P. Stanier, 2013, The Lancet Neurology.

FIRST-TRIMESTER PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS WITH LINKED DNA PROBES

M. Farrall, P. Scambler, C. Rodeck, 1986, The Lancet.

Mutation of Celsr1 Disrupts Planar Polarity of Inner Ear Hair Cells and Causes Severe Neural Tube Defects in the Mouse

Steve D. M. Brown, E. Fisher, K. Steel, 2003, Current Biology.

Germline Melanocortin-1-Receptor Genotype Is Associated with Severity of Cutaneous Phenotype in Congenital Melanocytic Nevi: A Role for MC1R in Human Fetal Development

S. Ring, I. Jackson, R. Hennekam, 2012, The Journal of investigative dermatology.

LINKAGE OF COL1A2 COLLAGEN GENE TO CYSTIC FIBROSIS, AND ITS CLINICAL IMPLICATIONS

M. Farrall, P. Scambler, R. Williamson, 1985, The Lancet.

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

X. Estivill, M. Farrall, P. Scambler, 1987, Nature.

Limited evolutionary conservation of imprinting in the human placenta.

S. Apostolidou, G. Kelsey, P. Stanier, 2006, Proceedings of the National Academy of Sciences of the United States of America.

The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice

E. Zwarthoff, P. Stanier, M. Meester-Smoor, 2008, Development.

Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects

X. Ke, M. Passos-Bueno, P. Stanier, 2017, Scientific Reports.

Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus

X. Estivill, R. Williamson, P. Stanier, 1988, Human Genetics.

Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss‐of‐function vs missense variants

P. Beales, M. Passos-Bueno, M. Lees, 2017, Clinical genetics.

Elevated placental expression of the imprinted PHLDA2 gene is associated with low birth weight

J. Whittaker, S. Apostolidou, P. Stanier, 2007, Journal of Molecular Medicine.

Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models

J. Wegiel, B. Tycko, W. Silverman, 2015, Genome Biology.

Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes

P. Hammond, C. Keller, P. Stanier, 2009, Human molecular genetics.

Comparative Physical and Transcript Maps of ∼1 Mb around loop-tail, a Gene for Severe Neural Tube Defects on Distal Mouse Chromosome 1 and Human Chromosome 1q22–q23

S. Gregory, A. Copp, P. Stanier, 2001 .

Genetic basis of neural tube defects: the mouse gene loop-tail maps to a region of chromosome 1 syntenic with human 1q21-q23.

A. Copp, P. Stanier, G. Moore, 1995, Genomics.

Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification.

A. Copp, P. Stanier, C. Paternotte, 2001, Human molecular genetics.

Genomic organization and embryonic expression of igsf8, an immunoglobulin superfamily member implicated in development of the nervous system and organ epithelia

A. Copp, D. Gerrelli, P. Stanier, 2003, Molecular and Cellular Neuroscience.

Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts.

Philip Stanier, P. Stanier, G. Moore, 2004, Human molecular genetics.

Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions

P. Stanier, M. Hitchins, G. Moore, 2001, Journal of medical genetics.

No evidence for mosaicism in Silver-Russell syndrome

P. Stanier, D. Monk, M. Preece, 2001, Journal of medical genetics.

Imprinted methylation profiles for proximal mouse Chromosomes 11 and 7 as revealed by methylation-sensitive representational difference analysis

G. Kelsey, P. Stanier, D. Monk, 2003, Mammalian Genome.

Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.

J. Clayton-Smith, P. Stanier, D. Monk, 2002, Human Genetics.

Maternal uniparental disomy 7 in Silver-Russell syndrome.

R. Trembath, P. Stanier, M. Preece, 1997, Journal of medical genetics.

Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark.

Philip Stanier, Philippe Arnaud, David Monk, 2003, Human molecular genetics.

Cloning and characterization of Igsf9 in mouse and human: a new member of the immunoglobulin superfamily expressed in the developing nervous system.

A. Copp, P. Stanier, C. Paternotte, 2002, Genomics.

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly

N. Greene, A. Copp, P. Stanier, 2018, Clinical genetics.

Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expression.

P. Stanier, D. Monk, R. Feil, 2009, Human molecular genetics.

Microsoft Word-8224284-file00.docx

S. Wells, N. Greene, A. Copp, 2014 .

Is LMNB1 a Susceptibility Gene for Neural Tube Defects in Humans?

A. Bassuk, N. Greene, A. Copp, 2013, Birth defects research. Part A, Clinical and molecular teratology.

Mutations in the Planar Cell Polarity Genes CELSR 1 and SCRIB are Associated with the Severe Neural Tube Defect

R. Stevenson, N. Greene, A. Copp, 2012 .

The emerging role of epigenetic mechanisms in the etiology of neural tube defects

N. Greene, P. Stanier, G. Moore, 2011, Epigenetics.

The Relationship Between Genotype and Phenotype: Some Basic Concepts

Philip Stanier, Gudrun E. Moore, P. Stanier, 2010 .

Abnormal folate metabolism in foetuses affected by neural tube defects.

Katie A. Burren, N. Greene, A. Copp, 2006, Brain : a journal of neurology.

Genotype and Phenotype: Some Basic Concepts

P. Stanier, G. Moore, 2006 .

Epithelial cell polarity genes are required for neural tube closure

P. Stanier, K. Doudney, 2005, American journal of medical genetics. Part C, Seminars in medical genetics.

Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse.

A. Copp, D. Henderson, P. Stanier, 2003, Human molecular genetics.

Circletail, a new mouse mutant with severe neural tube defects: chromosomal localization and interaction with the loop-tail mutation.

A. Copp, C. Mason, P. Stanier, 2001, Genomics.

Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.

M. Nöthen, M. Knapp, P. Stanier, 2016, American journal of human genetics.

Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype

S. Scherer, J. Malvehy, S. Puig, 2021, Genetics in Medicine.

Inherited duplications of PPP2R3B promote naevi and melanoma via a novel C21orf91-driven proliferative phenotype

S. Scherer, J. Malvehy, S. Puig, 2019, bioRxiv.

Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis

Eric T. Wang, Nicolas L. Fawzi, E. Wang, 2018, The EMBO journal.

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

T. Clark, N. Klein, P. Stanier, 2018, Applied and Environmental Microbiology.

Report of the fifth international workshop on human chromosome 1 mapping 1999

T. Matise, S. Gregory, J. Vance, 1997, Cytogenetic and Genome Research.

Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse

P. Stanier, D. Moulding, E. Peskett, 2018, Disease Models & Mechanisms.

Mouse Models of Syndromic Craniosynostosis

P. Stanier, E. Pauws, K. K. Lee, 2018, Molecular Syndromology.

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.

M. Bitner-Glindzicz, F. Baas, H. Williams, 2014, American journal of human genetics.

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

M. Bitner-Glindzicz, D. Jenkins, P. Clayton, 2018, Human molecular genetics.

The genetic aetiology of Silver–Russell syndrome

P. Stanier, D. Monk, M. Preece, 2007, Journal of Medical Genetics.

Imprinting of IGF2 P0 transcript and novel alternatively spliced INS-IGF2 isoforms show differences between mouse and human.

S Apostolidou, P Stanier, D Monk, 2006, Human molecular genetics.

Biallelic expression of IGFBP1 andIGFBP3, two candidate genes for the Silver-Russell syndrome

P Stanier, M. Preece, P. Stanier, 2000, Journal of medical genetics.

Genetics of Silver-Russell Syndrome

R. Trembath, M. Preece, P. Stanier, 1998, Hormone Research in Paediatrics.

Lack of Hemizygosity for the Insulin-Like Growth Factor I Receptor Gene in a Quantitative Study of 33 Silver Russell Syndrome Probands and Their Families

R. Trembath, P. Stanier, E. Wakeling, 1997, European journal of human genetics : EJHG.

The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome

Z Birjandi, L Bentley, K Nakabayashi, 2003, Journal of medical genetics.

Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32.

S. Scherer, R. Weksberg, M. Meguro, 2002, Human molecular genetics.

Identification and characterization of an imprinted antisense RNA ( MESTIT 1 ) in the human MEST locus on chromosome 7 q 32

S. Scherer, R. Weksberg, M. Meguro, 2002 .

Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome.

P Stanier, D Monk, E L Wakeling, 1999, American journal of human genetics.

Isolation of a human gene with protein sequence similarity to human and murine int‐1 and the Drosophila segment polarity mutant wingless.

P Stanier, X. Estivill, G. Bell, 1988, The EMBO journal.

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

R. Pfundt, J. Hurst, A. V. D. van den Ouweland, 2017, European Journal of Human Genetics.

Evaluation of Allelic Expression of Imprinted Genes in Adult Human Blood

A. Murrell, P. Stanier, L. Chitty, 2010, PloS one.

TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.

J. Brosens, A. Kispert, P. Stanier, 2007, American journal of human genetics.

Cleft Lip with Cleft Palate, Ankyloglossia, and Hypodontia are Associated with TBX22 Mutations

M. Lees, M. McEntagart, P. Stanier, 2011, Journal of dental research.

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

M. Ryten, R. Scott, P. Beales, 2013, Nature Genetics.

Linkage analysis of 62 X‐chromosomal loci excludes the X chromosome in an Icelandic family showing apparent X‐linked recessive inheritance of neural tube defects

M. Farrall, S. Forbes, P. Stanier, 1994, Clinical Genetics.

X‐linked CHARGE‐like Abruzzo–Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations

M. Lees, P. Stanier, E. Peskett, 2013, Clinical genetics.

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.

M. Patton, T. Strachan, S. Lindsay, 2002, Human molecular genetics.

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia

P. Goodfellow, M. Patton, P. Stanier, 2001, Nature Genetics.

Development of the lip and palate: FGF signalling.

P. Stanier, E. Pauws, 2012, Frontiers of oral biology.

FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate.

Philip Stanier, Erwin Pauws, P. Stanier, 2007, Trends in genetics : TIG.

Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region

G. Howell, P. Stanier, M. Ross, 2001, Human Genetics.

Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight.

Philip Stanier, Sayeda Abu-Amero, David Monk, 2012, American journal of human genetics.

Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family

M. Farrall, M. Lees, P. Stanier, 2019, Journal of dental research.

Disruption of FOXF2 as a likely cause of absent uvula in a large Egyptian family

M. Lees, P. Stanier, D. Morrogh, 2019 .

Evidence that insulin is imprinted in the human yolk sac.

P Stanier, E. Jauniaux, G. Bell, 2001, Diabetes.

Investigation of the Annexin A 5 M 2 haplotype in 500 white European recurrent miscarriage couples

P. Stanier, L. Regan, G. Moore, 2016 .

Investigation of the Annexin A5 M2 haplotype in 500 white European couples who have experienced recurrent spontaneous abortion.

P. Stanier, L. Regan, G. Moore, 2015, Reproductive biomedicine online.

MKI67 (marker of proliferation Ki-67)

K. Ntzeros, P. Stanier, D. Mazis, 2015 .

Phosphorylase kinase deﬁcient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations

P. Stanier, D. Monk, M. Hitchins, 2000 .

Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

H. Peeters, M. Bitner-Glindzicz, R. Hennekam, 2011, Nature Genetics.

STOX1 is not imprinted and is not likely to be involved in preeclampsia

S. Apostolidou, P. Stanier, C. Ris-Stalpers, 2007, Nature Genetics.

The role and interaction of imprinted genes in human fetal growth

K. Nicolaides, J. Whittaker, S. Apostolidou, 2015, Philosophical Transactions of the Royal Society B: Biological Sciences.

Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues

P Stanier, K Nakabayashi, D Monk, 2004, Journal of Medical Genetics.

TO JMG Genomic imprinting of PPP 1 R 9 A encoding neurabin I in skeletal muscle and extraembryonic tissues

S. Scherer, M. Oshimura, Y. Yoshikawa, 2004 .

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

S. Mundlos, U. Kornak, P. Stanier, 2018, American journal of medical genetics. Part A.

Novel RFLPs and microsatellite repeats increase informativity at four loci mapping to Xq22-q25

S. Forbes, P. Stanier, G. Moore, 1994, Human Genetics.

SNPs in the CpG island of NAP1L2: a possible link between DNA methylation and neural tube defects?

P. Avner, F. Matsuda, P. Danoy, 2002, American journal of medical genetics.

Tbx22(null) mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes (vol 18, pg 4171, 2009)

P. Hammond, C. Keller, P. Stanier, 2010 .

Spina bifida-predisposing heterozygous mutations in Planar Cell Polarity genes and Zic2 reduce bone mass in young mice

N. Greene, A. Copp, P. Stanier, 2018, Scientific Reports.

The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X.

S. Forbes, R. Williamson, P. Stanier, 1993, Genomics.

Determination of twin zygosity by DNA hybridisation to wild type bacteriophage M13

P. Stanier, P. Bennett, G. Moore, 1992, British journal of obstetrics and gynaecology.

Rewriting the Boundaries: Contemporary British Experimental Theatre and its Relation to Postmodern Cultural Theory.

P. Stanier, 2007 .

Prognostic model to predict postoperative acute kidney injury in patients undergoing major gastrointestinal surgery based on a national prospective observational cohort study

A. Sales, T. Rockall, H. Khan, 2018, BJS open.

Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene.

P. Scambler, S. Halford, R. Williamson, 1991, Genomics.

Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate.

M. Lees, P. Stanier, G. Moore, 2012, Birth defects research. Part A, Clinical and molecular teratology.

Association between peri‐operative angiotensin‐converting enzyme inhibitors and angiotensin‐2 receptor blockers and acute kidney injury in major elective non‐cardiac surgery: a multicentre, prospective cohort study

D. Menon, S. Bell, Lin Sun, 2018, Anaesthesia.

Challenges of one-year longitudinal follow-up of a prospective, observational cohort study using an anonymised database: recommendations for trainee research collaboratives

A. Sales, T. Rockall, H. Khan, 2019, BMC medical research methodology.

Two unusual cases of first trimester prenatal diagnosis of cystic fibrosis using DNA probes

M. Farrall, R. Williamson, P. Stanier, 1987, Prenatal diagnosis.

Identification and validation of loss of function variants in clinical contexts

P. Beales, F. Lescai, C. Bacchelli, 2014, Molecular genetics & genomic medicine.

The Distance Covered

P. Stanier, 2010 .

Identification and Validation of Loss of Function Variants in Clinical Contexts

F. Lescai, C. Bacchelli, P. Stanier, 2022 .

Molecular genetic etiology of twin reversed arterial perfusion sequence.

N. Fisk, P. Stanier, P. Bennett, 1996, American journal of obstetrics and gynecology.

Paralogous sm22alpha (Tagln) genes map to mouse chromosomes 1 and 9: further evidence for a paralogous relationship.

A. Copp, P. Stanier, J. Eddleston, 1998, Genomics.

Localization of the mouse gene encoding tyrosine kinase receptor type 10 on distal Chromosome 1

A. Copp, P. Stanier, J. Eddleston, 1997, Mammalian Genome.

Persistence of cytomegalovirus in mononuclear cells in peripheral blood from blood donors.

D. Taylor, P. Stanier, A. Kitchen, 1989, BMJ.

Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate.

M. Lees, P. Stanier, G. Moore, 2012, Birth defects research. Part A, Clinical and molecular teratology.

High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta

Matthew E. Ritchie, P. Deloukas, S. Tavaré, 2010, BMC Genetics.

The genetic aetiology of Silver–Russell syndrome

P. Stanier, D. Monk, G. Moore, 2007, Journal of Medical Genetics.

Enrichment of clinically relevant organisms in spontaneous preterm delivered placenta and reagent contamination across all clinical groups in a large UK pregnancy cohort

P. Stanier, G. Moore, R. Doyle, 2018 .

A new polymorphism at the DXS178 locus.

P. Stanier, G. E. Moore, R. Newton, 1991, Nucleic acids research.

Polymorphic dinucleotide repeat at the DXS3 locus.

A. Ivens, S. Forbes, P. Stanier, 1991, Nucleic acids research.