Stephen R.F. Twigg

Stephen R.F. Twigg publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Stephen R.F. Twigg sits on this spectrum.

Stephen R.F. Twigg D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Stephen R.F. Twigg sits on this spectrum.

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