Simon McGowan

• A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

  Journal article

  Schwerd T. et al, (2017), J Exp Med, 214, 2547 - 2562

• Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.

  Journal article

  Kim S. et al, (2017), Hum Mol Genet, 26, 2118 - 2132

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

  Journal article

  Miller KA. et al, (2017), J Med Genet, 54, 260 - 268

• Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

  Journal article

  Goos JA. et al, (2016), Hum Mutat, 37, 732 - 736

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

  Journal article

  Fenwick AL. et al, (2016), Am J Hum Genet, 99, 125 - 138

• A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

  Journal article

  Twigg SRF. et al, (2016), Am J Hum Genet, 98, 1256 - 1265

• Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.

  Journal article

  Maher GJ. et al, (2016), Proc Natl Acad Sci U S A, 113, 2454 - 2459

• Multiplexed analysis of chromosome conformation at vastly improved sensitivity.

  Journal article

  Davies JO. et al, (2016), Nat Methods, 13, 74 - 80

• Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.

  Journal article

  Twigg SR. et al, (2015), Am J Hum Genet, 97, 378 - 388

• Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

  Journal article

  Belaya K. et al, (2015), Brain, 138, 2493 - 2504

• Carbonic anhydrase IX induction defines a heterogeneous cancer cell response to hypoxia and mediates stem cell-like properties and sensitivity to HDAC inhibition.

  Journal article

  Ledaki I. et al, (2015), Oncotarget, 6, 19413 - 19427

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

  Journal article

  Taylor JC. et al, (2015), Nat Genet, 47, 717 - 726

• Clinical and Hematologic Impact of Fetal and Perinatal Variables on Mutant GATA1 Clone Size in Neonates with Down Syndrome

  Journal article

  Bhatnagar N. et al, (2014), BLOOD, 124

• De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

  Journal article

  Babbs C. et al, (2014), J Med Genet, 51, 737 - 747

• Understanding functional miRNA-target interactions in vivo by site-specific genome engineering.

  Journal article

  Bassett AR. et al, (2014), Nat Commun, 5

• Cardamine hirsuta: a versatile genetic system for comparative studies.

  Journal article

  Hay AS. et al, (2014), Plant J, 78, 1 - 15

• Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment.

  Journal article

  Hughes JR. et al, (2014), Nat Genet, 46, 205 - 212

• Combinatorial HLA-peptide bead libraries for high throughput identification of CD8+ T cell specificity

  Journal article

  Pan X. et al, (2014), Journal of Immunological Methods, 403, 72 - 78

• Combinatorial HLA-peptide bead libraries for high throughput identification of CD8⁺ T cell specificity.

  Journal article

  Pan X. et al, (2014), J Immunol Methods, 403, 72 - 78

• A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.

  Journal article

  Favaro FP. et al, (2014), Am J Hum Genet, 94, 120 - 128

• Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.

  Journal article

  Giannoulatou E. et al, (2013), Proc Natl Acad Sci U S A, 110, 20152 - 20157

• GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia.

  Journal article

  Roberts I. et al, (2013), Blood, 122, 3908 - 3917

• Dynamic analysis of gene expression and genome-wide transcription factor binding during lineage specification of multipotent progenitors

  Journal article

  May G. et al, (2013), Cell Stem Cell, 13, 754 - 768

• Dynamic analysis of gene expression and genome-wide transcription factor binding during lineage specification of multipotent progenitors.

  Journal article

  May G. et al, (2013), Cell Stem Cell, 13, 754 - 768

• MIG: Multi-Image Genome viewer.

  Journal article

  McGowan SJ. et al, (2013), Bioinformatics, 29, 2477 - 2478

• Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.

  Journal article

  Babbs C. et al, (2013), Haematologica, 98, 1383 - 1387

• Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

  Journal article

  Twigg SR. et al, (2013), Hum Mol Genet, 22, 1654 - 1662

• Rapid, comprehensive diagnosis for unexplained anaemia

  Journal article

  Roy N. et al, (2013), BRITISH JOURNAL OF HAEMATOLOGY, 161, 1 - 1

• Atypical congenital dyserythropoietic anaemia: a novel mutation in LPIN2 causes Majeed syndrome with incomplete penetrance

  Journal article

  Roy N. et al, (2013), BRITISH JOURNAL OF HAEMATOLOGY, 161, 11 - 11

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

  Journal article

  Twigg SRF. et al, (2013), Nature Genetics, 45, 308 - 313

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

  Journal article

  Twigg SR. et al, (2013), Nat Genet, 45, 308 - 313

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

  Journal article

  Sharma VP. et al, (2013), Nat Genet, 45, 304 - 307

• Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

  Journal article

  Cossins J. et al, (2013), Brain, 136, 944 - 956

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

  Conference paper

  Sharma VP. et al, (2013), LANCET, 381, 114 - 114

• Quantitative phosphoproteome analysis unveils LAT as a modulator of CD3ζ and ZAP-70 tyrosine phosphorylation.

  Journal article

  Salek M. et al, (2013), PLoS One, 8

• High-resolution analysis of cis-acting regulatory networks at the α-globin locus

  Journal article

  Hughes JR. et al, (2013), Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 368

• High-resolution analysis of cis-acting regulatory networks at the α-globin locus.

  Journal article

  Hughes JR. et al, (2013), Philos Trans R Soc Lond B Biol Sci, 368

• Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

  Journal article

  Cossins J. et al, (2013), Brain, 136, 944 - 956

• Mutations in multidomain protein MEGF8 identify a carpenter syndrome subtype associated with defective lateralization

  Journal article

  Twigg SRF. et al, (2012), American Journal of Human Genetics, 91, 897 - 905

• Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

  Journal article

  Twigg SR. et al, (2012), Am J Hum Genet, 91, 897 - 905

• Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

  Journal article

  Belaya K. et al, (2012), Am J Hum Genet, 91, 193 - 201

• Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates

  Journal article

  Belaya K. et al, (2012), American Journal of Human Genetics, 91, 193 - 201

• Identification of serotype-specific T cell responses to highly conserved regions of the dengue viruses.

  Journal article

  Malavige GN. et al, (2012), Clin Exp Immunol, 168, 215 - 223

• PATERNAL AGE EFFECT AND SELFISH MUTATIONS

  Journal article

  Goriely A. et al, (2012), SCHIZOPHRENIA RESEARCH, 136, S4 - S4

• Intragenic enhancers act as alternative promoters.

  Journal article

  Kowalczyk MS. et al, (2012), Mol Cell, 45, 447 - 458

• The Effect of Advanced Paternal Age on Genetic Risks Is Mediated through Dysregulation of HRAS Signalling in the Testis.

  Conference paper

  Goriely A. et al, (2011), ENVIRONMENTAL AND MOLECULAR MUTAGENESIS, 52, S52 - S52

• Cardiac iron overload in transfusion-dependent patients with myelodysplastic syndromes.

  Journal article

  Roy NB. et al, (2011), Br J Haematol, 154, 521 - 524

• Heterogeneity of tumor response to hypoxia: Carbonic anhydrase 9 induction defines subpopulation of hypoxic cells with high Wnt signalling, stem cell properties and drug resistance

  Journal article

  Ledaki I. et al, (2011), CANCER RESEARCH, 71

• Global gene expression analysis of human erythroid progenitors

  Conference paper

  Merryweather-Clarke AT. et al, (2011), BRITISH JOURNAL OF HAEMATOLOGY, 153, 6 - 6

• Global gene expression analysis of human erythroid progenitors.

  Journal article

  Merryweather-Clarke AT. et al, (2011), Blood, 117, e96 - 108

• T cell receptor (TCR)-induced tyrosine phosphorylation dynamics identifies THEMIS as a new TCR signalosome component.

  Journal article

  Brockmeyer C. et al, (2011), J Biol Chem, 286, 7535 - 7547

• Self-organization and regulation of intrinsically disordered proteins with folded N-termini.

  Journal article

  Simister PC. et al, (2011), PLoS Biol, 9

• Replication error deficient and proficient colorectal cancer gene expression differences caused by 3'UTR polyT sequence deletions.

  Journal article

  Wilding JL. et al, (2010), Proc Natl Acad Sci U S A, 107, 21058 - 21063

• Genome-wide identification of TAL1's functional targets: insights into its mechanisms of action in primary erythroid cells.

  Journal article

  Kassouf MT. et al, (2010), Genome Res, 20, 1064 - 1083

• Gene set analysis of lung samples provides insight into pathogenesis of progressive, fibrotic pulmonary sarcoidosis.

  Journal article

  Lockstone HE. et al, (2010), Am J Respir Crit Care Med, 181, 1367 - 1375

• CPFP: a central proteomics facilities pipeline.

  Journal article

  Trudgian DC. et al, (2010), Bioinformatics, 26, 1131 - 1132

• Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

  Journal article

  Goriely A. et al, (2009), Nat Genet, 41, 1247 - 1252

• Ankylosing spondylitis monocytes show upregulation of proteins involved in inflammation and the ubiquitin proteasome pathway.

  Journal article

  Wright C. et al, (2009), Ann Rheum Dis, 68, 1626 - 1632

• A METHOD FOR THE HIGH-RESOLUTION IDENTIFICATION OF ACTIVE CIS ELEMENTS FOR ANY GIVEN GENE AND ITS APPLICATION TO THE HUMAN ALPHA GLOBIN LOCUS

  Conference paper

  Hughes JR. et al, (2009), CELLULAR ONCOLOGY, 31, 101 - 101

• Antigen Spondylitis monocytes show upregulation of proteins involved in antigen presentation

  Journal article

  Bowness P. et al, (2008), CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, 26, 727 - 727

• The repertoire of minimal mobile elements in the Neisseria species and evidence that these are involved in horizontal gene transfer in other bacteria.

  Journal article

  Snyder LA. et al, (2007), Mol Biol Evol, 24, 2802 - 2815

• The small FNR regulon of Neisseria gonorrhoeae: comparison with the larger Escherichia coli FNR regulon and interaction with the NarQ-NarP regulon.

  Journal article

  Whitehead RN. et al, (2007), BMC Genomics, 8

• Many expressed genes in bacteria and yeast are transcribed only once per cell cycle.

  Journal article

  Bon M. et al, (2006), FASEB J, 20, 1721 - 1723

• Many expressed genes in bacteria and yeast are transcribed only once per cell cycle

  Journal article

  Bon M. et al, (2006), FASEB Journal, 20

• Ubiquitin-mediated fluctuations in MHC class II facilitate efficient germinal center B cell responses

  Journal article

  Bannard OM., Journal of Experimental Medicine

Recent Publications

• A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

  Journal article

  Schwerd T. et al, (2017), J Exp Med, 214, 2547 - 2562

• Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.

  Journal article

  Kim S. et al, (2017), Hum Mol Genet, 26, 2118 - 2132

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

  Journal article

  Miller KA. et al, (2017), J Med Genet, 54, 260 - 268

• Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

  Journal article

  Goos JA. et al, (2016), Hum Mutat, 37, 732 - 736

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

  Journal article

  Fenwick AL. et al, (2016), Am J Hum Genet, 99, 125 - 138