Stephen R.F. Twigg

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

Andy Rimmer, Hang Phan, Iain Mathieson et al. · Nature Genetics · 2014 · 1.2K citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith et al. · Nature Genetics · 2003 · 429 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Jenny C. Taylor, Hilary C. Martin, Stefano Lise et al. · Nature Genetics · 2015 · 388 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations of ephrin-B1 ( <i>EFNB1</i> ), a marker of tissue boundary formation, cause craniofrontonasal syndrome

Stephen R.F. Twigg, Rui Kan, Christian Babbs et al. · Proceedings of the National Academy of Sciences · 2004 · 340 citations · Full text

Dentistry, Genetics, Molecular Genetics +17

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

Andrew O.M. Wilkie, Zequn Tang, Navaratnam Elanko et al. · Nature Genetics · 2000 · 318 citations

Dentistry, Genetics, Molecular Genetics +16