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

Long-read Sequencing, Haplotype Determination, Allelic Variant +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 · 426 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

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 · 378 citations · Full text

Sequencing, Psychiatry, Clinical Genome +8

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 · 336 citations · Full text

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

Regenerative Medicine, Sclerostin, Developmental Biology +9