Stephen R.F. Twigg

Overview

Best Publications

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

  A Rimmer;H Phan;I Mathieson;Z Iqbal

  1106
  Citations

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

  Stephen P. Robertson;Stephen P. Robertson;Stephen R.F. Twigg;Andrew J. Sutherland-Smith;Valérie Biancalana

  441
  Citations

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

  Jenny C. Taylor;Jenny C. Taylor;Hilary C. Martin;Stefano Lise;John Broxholme

  418
  Citations

• Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

  Stephen R. F. Twigg;Rui Kan;Christian Babbs;Elena G. Bochukova

  364
  Citations

• Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

  Andrew O. M. Wilkie;Jo C. Byren;Jane A. Hurst;Jayaratnam Jayamohan

  331
  Citations

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

  Andrew O.M. Wilkie;Zequn Tang;Navaratnam Elanko;Sinead Walsh

  329
  Citations

• De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

  Michael Oldridge;Elaine H. Zackai;Donna M. McDonald-McGinn;Sachiko Iseki

  323
  Citations

• Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis

  Shih-hsin Kan;Navaratnam Elanko;David Johnson;Laura Cornejo-Roldan

  301
  Citations

• A Genetic-Pathophysiological Framework for Craniosynostosis

  Stephen R.F. Twigg;Andrew O.M. Wilkie

  283
  Citations

• A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1

  David Johnson;Sharon W. Horsley;Dominique M. Moloney;Michael Oldridge

  250
  Citations

• Mutations in TCF12 , encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

  Vikram P Sharma;Aimée L Fenwick;Mia S Brockop;Mia S Brockop;Simon J McGowan

  219
  Citations

• Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

  Stephen R F Twigg;Elena Vorgia;Elena Vorgia;Simon J McGowan;Ioanna Peraki;Ioanna Peraki

  175
  Citations

• Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

  Stephen R.F. Twigg;Sarah L. Versnel;Gudrun Nürnberg;Melissa M. Lees

  172
  Citations

• Genotype-Phenotype Correlation for Nucleotide Substitutions in the IgII-IgIII Linker of FGFR2

  Michael Oldridge;Peter W. Lunt;Elaine H. Zackai;Donna M. McDonald-McGinn

  159
  Citations

• New insights into craniofacial malformations

  Twigg;AO Wilkie

  158
  Citations

• Diagnostic value of exome and whole genome sequencing in craniosynostosis.

  Kerry A Miller;Stephen R F Twigg;Simon J McGowan;Julie M Phipps

  141
  Citations

• A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects

  Francine P Favaro;Lucas Alvizi;Roseli Maria Zechi-Ceide;Débora Romeo Bertola

  120
  Citations

• The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

  Stephen R.F. Twigg;Kazuya Matsumoto;Kazuya Matsumoto;Alexa M.J. Kidd;Anne Goriely

  112
  Citations

• Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

  Aimee L. Fenwick;Maciej Kliszczak;Maciej Kliszczak;Fay Cooper;Jennie Murray

  110
  Citations

• A cryptic t(5;11)(q35;p15.5) in 2 children with acute myeloid leukemia with apparently normal karyotypes, identified by a multiplex fluorescence in situ hybridization telomere assay.

  Jill Brown;Mays Jawad;Stephen R.F. Twigg;Kaan Saracoglu

  109
  Citations