Paul N. Schofield

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 · 834 citations · Full text

Engineering, Genetics, Updated Hpo Database +19

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 · 406 citations · Full text

The mammalian gene function resource: the international knockout mouse consortium

Allan Bradley, Konstantinos Anastassiadis, A. Ayadi et al. · Mammalian Genome · 2012 · 317 citations · Full text

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 · 302 citations

Genetic Disorder, Genetics, Pathogenesis +5

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

Developmental Biology, Tissue Development, Genetics +12