A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith–Wiedemann syndrome
NJ Smilinich, CD Day, GV Fitzpatrick… - Proceedings of the …, 1999 - National Acad Sciences
Loss of imprinting at IGF2, generally through an H19-independent mechanism, is associated
with a large percentage of patients with the overgrowth and cancer predisposition condition …
with a large percentage of patients with the overgrowth and cancer predisposition condition …
[HTML][HTML] Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome
WN Cooper, A Luharia, GA Evans, H Raza… - European journal of …, 2005 - nature.com
Abstract Beckwith–Wiedemann Syndrome (BWS) results from mutations or epigenetic
events involving imprinted genes at 11p15. 5. Most BWS cases are sporadic and uniparental …
events involving imprinted genes at 11p15. 5. Most BWS cases are sporadic and uniparental …
The role of ontologies in biological and biomedical research: a functional perspective
R Hoehndorf, PN Schofield… - Briefings in …, 2015 - academic.oup.com
Ontologies are widely used in biological and biomedical research. Their success lies in their
combination of four main features present in almost all ontologies: provision of standard …
combination of four main features present in almost all ontologies: provision of standard …
Mouse genetic and phenotypic resources for human genetics
PN Schofield, R Hoehndorf, GV Gkoutos - Human mutation, 2012 - Wiley Online Library
The use of model organisms to provide information on gene function has proved to be a
powerful approach to our understanding of both human disease and fundamental …
powerful approach to our understanding of both human disease and fundamental …
[PDF][PDF] The human phenotype ontology: semantic unification of common and rare disease
The Human Phenotype Ontology (HPO) is widely used in the rare disease community for
differential diagnostics, phenotype-driven analysis of next-generation sequence-variation …
differential diagnostics, phenotype-driven analysis of next-generation sequence-variation …
PhenomeNET: a whole-phenome approach to disease gene discovery
R Hoehndorf, PN Schofield… - Nucleic acids research, 2011 - academic.oup.com
Phenotypes are investigated in model organisms to understand and reveal the molecular
mechanisms underlying disease. Phenotype ontologies were developed to capture and …
mechanisms underlying disease. Phenotype ontologies were developed to capture and …
[HTML][HTML] Deletions of chromosomal regulatory boundaries are associated with congenital disease
Background Recent data from genome-wide chromosome conformation capture analysis
indicate that the human genome is divided into conserved megabase-sized self-interacting …
indicate that the human genome is divided into conserved megabase-sized self-interacting …
The GA4GH Phenopacket schema defines a computable representation of clinical data
TG is a shareholder of Westlake Omics Inc. TI is a cofounder of Data4Cure, is on the
Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …
Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …
Post-publication sharing of data and tools
PN Schofield, T Bubela, T Weaver, L Portilla, SD Brown… - Nature, 2009 - nature.com
Post-publication sharing of data and tools | Nature Skip to main content Thank you for visiting
nature.com. You are using a browser version with limited support for CSS. To obtain the best …
nature.com. You are using a browser version with limited support for CSS. To obtain the best …
Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
JR Engel, A Smallwood, A Harper… - Journal of medical …, 2000 - jmg.bmj.com
Beckwith-Wiedemann syndrome (BWS) is a model imprinting disorder resulting from
mutations or epigenetic events involving imprinted genes at chromosome 11p15. 5. Thus …
mutations or epigenetic events involving imprinted genes at chromosome 11p15. 5. Thus …