World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
64
Citations
12591
World Ranking
2810
National Ranking
354

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

His primary areas of study are Genetics, Gene, Genomic imprinting, Neural tube and Mutation. His research in Candidate gene, Chromosome 7, Silver–Russell syndrome, Allele and Phenotype are components of Genetics. His Gene research incorporates elements of Computational biology and Cystic fibrosis.

Philip Stanier combines subjects such as Endocrinology, Internal medicine, Fetal membrane, Regulation of gene expression and Imprinting with his study of Genomic imprinting. His Craniorachischisis study, which is part of a larger body of work in Neural tube, is frequently linked to Neurulation, bridging the gap between disciplines. His Mutation study combines topics from a wide range of disciplines, such as Neural crest cell migration, TBX22 and Craniofacial.

His most cited work include:

  • Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. (493 citations)
  • Neural tube defects: recent advances, unsolved questions, and controversies (344 citations)
  • Simple non-invasive method to obtain DNA for gene analysis. (285 citations)

What are the main themes of his work throughout his whole career to date?

The scientist’s investigation covers issues in Genetics, Gene, Genomic imprinting, Mutation and Neural tube. His Genetics research focuses on Candidate gene, Locus, DNA methylation, Silver–Russell syndrome and Allele. His DNA methylation research incorporates themes from Regulation of gene expression, Methylation and Epigenetics.

His biological study spans a wide range of topics, including Neural tube defect and Cell biology. His Genomic imprinting study incorporates themes from Gene duplication, Placenta and Imprinting. His work carried out in the field of Neural tube brings together such families of science as Spina bifida and Mutant.

He most often published in these fields:

  • Genetics (57.35%)
  • Gene (29.90%)
  • Genomic imprinting (21.08%)

What were the highlights of his more recent work (between 2012-2020)?

  • Genetics (57.35%)
  • Gene (29.90%)
  • Mutation (12.75%)

In recent papers he was focusing on the following fields of study:

Philip Stanier mostly deals with Genetics, Gene, Mutation, DNA methylation and Phenotype. Allele, Missense mutation, Neural tube, Autosomal recessive cerebellar ataxia and Candidate gene are the subjects of his Genetics studies. His Gene research includes elements of Microbiome, Ureaplasma, Mycoplasma and Cohort.

The study incorporates disciplines such as TBX22, Loss function and RNA splicing in addition to Mutation. The DNA methylation study combines topics in areas such as Chromosome, Methylation, Epigenetics and Genome. His studies in Phenotype integrate themes in fields like Cancer research, Zebrafish and Cell biology.

Between 2012 and 2020, his most popular works were:

  • Neural tube defects: recent advances, unsolved questions, and controversies (344 citations)
  • Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS (178 citations)
  • Genetics of cleft lip and/or cleft palate: Association with other common anomalies (83 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Genetics

His primary areas of investigation include Genetics, Mutation, Gene, Allele and DNA methylation. His Genetics research includes themes of Cerebellum and Cerebellar atrophy. His Mutation research is multidisciplinary, relying on both RNA splicing, Cutis laxa and Exon.

His work on Dwarfism as part of general Gene study is frequently linked to Phosphatidylserine, therefore connecting diverse disciplines of science. Philip Stanier has included themes like Gene mutation, SCRIB and Mutant, Genetic screen in his Allele study. His DNA methylation research is multidisciplinary, incorporating elements of Methylation, Epigenetics and Heritability.

Best Publications

  • Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse.

    John A. Curtin;Elizabeth Quint;Vicky Tsipouri;Ruth M. Arkell

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

    Philip Stanier;Gudrun E. Moore

  • Genetics of human neural tube defects

    Nicholas D.E. Greene;Philip Stanier;Andrew J. Copp

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

    Xavier Estivill;Martin Farrall;Peter J. Scambler;Gillian M. Bell

  • Simple non-invasive method to obtain DNA for gene analysis.

    Nicholas Lench;Philip Stanier;Robert Williamson

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

    Jennifer N. Murdoch;Kit Doudney;Caroline Paternotte;Andrew J. Copp

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

    Jennifer N Murdoch;Deborah J Henderson;Kit Doudney;Carles Gaston-Massuet

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

    Claire Braybrook;Kit Doudney;Ana Carolina B. Marçano;Alfred Arnason

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

    Veronica A Kinsler;Anna C Thomas;Miho Ishida;Neil W Bulstrode

  • Limited evolutionary conservation of imprinting in the human placenta

    D. Monk;P. Arnaud;S. Apostolidou;F. A. Hills

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

    Caroline Rooryck;Anna Diaz-Font;Daniel P S Osborn;Elyes Chabchoub

  • The genetic aetiology of Silver–Russell syndrome

    Sayeda Abu-Amero;David Monk;Jennifer Frost;Michael Preece

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

    Alexis Robinson;Sarah Escuin;Kit Doudney;Michel Vekemans

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

    Philippe Arnaud;David Monk;Megan Hitchins;Emma Gordon

  • TBX22 mutations are a frequent cause of cleft palate

    A C B Marçano;K Doudney;C Braybrook;R Squires

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

    S. Apostolidou;S. Abu-Amero;K. O’Donoghue;J. Frost

  • Duplication of 7p11.2-p13, Including GRB10, in Silver-Russell Syndrome

    David Monk;David Monk;Emma L Wakeling;Emma L Wakeling;Virginia Proud;Megan Hitchins

  • Genetics of cleft lip and/or cleft palate: Association with other common anomalies

    Núria Setó-Salvia;Philip Stanier

  • The role and interaction of imprinted genes in human fetal growth

    Gudrun E. Moore;Miho Ishida;Charalambos Demetriou;Lara Al-Olabi

  • Maternal uniparental disomy 7 in Silver-Russell syndrome.

    M A Preece;S M Price;V Davies;L Clough

Frequent Co-Authors

Gudrun E. Moore
Gudrun E. Moore University College London
Andrew J. Copp
Andrew J. Copp University College London
Nicholas D. E. Greene
Nicholas D. E. Greene University College London
Neil J. Sebire
Neil J. Sebire Great Ormond Street Hospital
Eugene Healy
Eugene Healy University of Southampton
Nicholas J. Lench
Nicholas J. Lench University College London
John C. Whittaker
John C. Whittaker Grinnell College
Martin Farrall
Martin Farrall University of Oxford
Michael A. Patton
Michael A. Patton St George's, University of London
Gavin Kelsey
Gavin Kelsey Babraham Institute

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