Stephen R.F. Twigg
John Radcliffe Hospital(GB)University of Oxford(GB)Mary Lyon Centre at MRC Harwell(GB)MRC Weatherall Institute of Molecular Medicine(GB)MRC Human Immunology Unit(GB)Oxford BioMedica (United Kingdom)(GB)
Publications by Year
Research Areas
Craniofacial Disorders and Treatments, Cleft Lip and Palate Research, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Hedgehog Signaling Pathway Studies
Most-Cited Works
- → Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications(2014)1,174 cited
- → Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans(2003)428 cited
- → Factors influencing success of clinical genome sequencing across a broad spectrum of disorders(2015)386 cited
- → Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome(2004)336 cited
- → Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification(2000)318 cited
- → Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis(2010)287 cited