Concepedia

Paul N. Schofield

PN

Statistics

Publications

150

Citations

8.4K

H-Index

45

Active since

1982

Affiliations

University of Cambridge(Current)

Jackson Laboratory

European Bioinformatics Institute

King Abdullah University of Science and Technology

University of Oxford

Paul N. Schofield is an author at University of Cambridge specializing in life sciences, genetics, and medicine.

ORCID

Publications per year

1982–2023

150

Publications

150

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

Sebastian Köhler, Sandra C. Doelken, Chris Mungall et al. · Nucleic Acids Research · 2013 · 837 citations · Full text

, , +14

A maternally methylated CpG island in <i>KvLQT1</i> is associated with an antisense paternal transcript and loss of imprinting in Beckwith–Wiedemann syndrome

Nancy J. Smilinich, Colleen D. Day, Galina V. Fitzpatrick et al. · Proceedings of the National Academy of Sciences · 1999 · 407 citations · Full text

, , +17

The mammalian gene function resource: the international knockout mouse consortium

Allan Bradley, Konstantinos Anastassiadis, A. Ayadi et al. · Mammalian Genome · 2012 · 328 citations · Full text

, , +15

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

Wendy N. Cooper, Anita Luharia, Gail A Evans et al. · European Journal of Human Genetics · 2005 · 303 citations

, , +7

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

Rolf Ohlsson, A. Nyström, Susan Pfeifer‐Ohlsson et al. · Nature Genetics · 1993 · 296 citations

, , +11

1–5 of 150