PubRank

Philip Stanier

Author PubWeight™ 45.86‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. Curr Biol 2003 3.31
2 Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. J Invest Dermatol 2013 2.74
3 Genetics of human neural tube defects. Hum Mol Genet 2009 2.28
4 Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse. Hum Mol Genet 2003 2.11
5 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 1.80
6 Neural tube defects: recent advances, unsolved questions, and controversies. Lancet Neurol 2013 1.68
7 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 1.56
8 Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet 2011 1.43
9 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 1.28
10 TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression. Am J Hum Genet 2007 1.23
11 Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. Hum Mol Genet 2002 1.20
12 High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta. BMC Genet 2010 1.18
13 Abnormal folate metabolism in foetuses affected by neural tube defects. Brain 2007 1.16
14 The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice. Development 2008 1.16
15 Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model. Hum Mol Genet 2007 1.15
16 Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expression. Hum Mol Genet 2009 1.12
17 The emerging role of epigenetic mechanisms in the etiology of neural tube defects. Epigenetics 2011 1.08
18 Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. Am J Hum Genet 2006 1.07
19 Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat 2011 1.06
20 Evaluation of allelic expression of imprinted genes in adult human blood. PLoS One 2010 1.05
21 Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans. Hum Mol Genet 2011 1.03
22 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 1.02
23 FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate. Trends Genet 2007 1.01
24 The effects of culture on genomic imprinting profiles in human embryonic and fetal mesenchymal stem cells. Epigenetics 2011 0.98
25 Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight. Am J Hum Genet 2012 0.98
26 Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. Hum Genet 2002 0.97
27 Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32. Hum Mol Genet 2002 0.92
28 Epithelial cell polarity genes are required for neural tube closure. Am J Med Genet C Semin Med Genet 2005 0.91
29 STOX1 is not imprinted and is not likely to be involved in preeclampsia. Nat Genet 2007 0.90
30 Cloning and characterization of Igsf9 in mouse and human: a new member of the immunoglobulin superfamily expressed in the developing nervous system. Genomics 2002 0.88
31 Epigenetic signatures of Silver-Russell syndrome. J Med Genet 2010 0.87
32 DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed. Mamm Genome 2002 0.85
33 Imprinted methylation profiles for proximal mouse chromosomes 11 and 7 as revealed by methylation-sensitive representational difference analysis. Mamm Genome 2003 0.81
34 Is LMNB1 a susceptibility gene for neural tube defects in humans? Birth Defects Res A Clin Mol Teratol 2013 0.78
35 SNPs in the CpG island of NAP1L2: a possible link between DNA methylation and neural tube defects? Am J Med Genet 2002 0.78
36 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 0.78
37 The speech gene FOXP2 is not imprinted. J Med Genet 2012 0.77
38 Fat dads must not be blamed for their children's health problems. BMC Med 2013 0.75
39 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 0.75