Paul N. Schofield

Overview

Best Publications

• The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

  Sebastian Köhler;Sandra C. Doelken;Christopher J. Mungall;Sebastian Bauer

  923
  Citations

• A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome.

  Nancy J. Smilinich;Colleen D. Day;Galina V. Fitzpatrick;Germaine M. Caldwell

  514
  Citations

• IGF2 is parentally imprinted during human embryogenesis and in the Beckwith–Wiedemann syndrome

  Rolf Ohlsson;Anders Nyström;Susan Pfeifer-Ohlsson;Virpi Töhönen

  343
  Citations

• Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.

  Wendy N Cooper;Anita Luharia;Gail A Evans;Hussain Raza

  340
  Citations

• The mammalian gene function resource: the international knockout mouse consortium

  Allan Bradley;Konstantinos Anastassiadis;Abdelkader Ayadi;James F. Battey

  333
  Citations

• The role of ontologies in biological and biomedical research: a functional perspective

  Robert Hoehndorf;Paul N. Schofield;Georgios V. Gkoutos

  303
  Citations

• Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

  Jacqueline R Engel;Alan Smallwood;Antonita Harper;Michael J Higgins

  250
  Citations

• PhenomeNET: a whole-phenome approach to disease gene discovery

  Robert Hoehndorf;Paul Schofield;Georgios Vasileios Gkoutos

  246
  Citations

• The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

  Tudor Groza;Sebastian Köhler;Dawid Moldenhauer;Nicole Vasilevsky

  241
  Citations

• Prepublication data sharing.

  E Birney;T J Hudson;Green

  240
  Citations

• Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.

  Wayne W K Lam;Izuho Hatada;Sachiko Ohishi;Tsunehiro Mukai

  233
  Citations

• Molecular and functional characterization of amylin, a peptide associated with type 2 diabetes mellitus

  A N Roberts;B Leighton;J A Todd;D Cockburn

  197
  Citations

• Post-publication sharing of data and tools

  Paul N Schofield;Tania Bubela;Thomas A Weaver;Lili Portilla

  172
  Citations

• Deletions of chromosomal regulatory boundaries are associated with congenital disease

  Jonas Ibn-Salem;Jonas Ibn-Salem;Sebastian Köhler;Michael I. Love;Ho Ryun Chung

  160
  Citations

• Imprinting of IGF2 and H19: Lack of Reciprocity in Sporadic Beckwith-Wiedemann Syndrome

  Johanna A. Joyce;Wayne K. Lam;Wayne K. Lam;Daniel J. Catchpoole;Paul Jenks

  147
  Citations

• The Units Ontology: a tool for integrating units of measurement in science

  Georgios V. Gkoutos;Paul N. Schofield;Robert Hoehndorf

  131
  Citations

• Temporal changes in the expression of the insulin-like growth factor II gene associated with tissue maturation in the human fetus.

  A.L. Brice;J.E. Cheetham;V.N. Bolton;N.C. Hill

  129
  Citations

• A mouse homoeo box gene is expressed during embryogenesis and in adult kidney.

  Ian J. Jackson;Paul Schofield;Paul Schofield;Brigid Hogan

  126
  Citations

• Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis.

  Frances M. Richards;Paul N. Schofield;Stewart Fleming;Eamonn R. Maher

  125
  Citations

• Abnormal skeletal and cardiac development, cardiomyopathy, muscle atrophy and cataracts in mice with a targeted disruption of the Nov (Ccn3) gene

  Emma Heath;Dalal Tahri;Elisabetta Andermarcher;Paul Schofield

  120
  Citations