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Author/Creator McGowan, Simon J

1. De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. Issue 11 (16th September 2014)

Authors:
Babbs, Christian; Lloyd, Deborah; Pagnamenta, Alistair T; Twigg, Stephen R F; Green, Joanne; McGowan, Simon J; Mirza, Ghazala; Naples, Rebecca; Sharma, Vikram P; Volpi, Emanuela V; Buckle, Veronica J; Wall, Steven A; Knight, Samantha J L; Parr, Jeremy R; Wilkie, Andrew O M
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 11(2014)
Page Start:
737
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Diagnostic value of exome and whole genome sequencing in craniosynostosis. Issue 4 (24th November 2016)

Authors:
Miller, Kerry A; Twigg, Stephen R F; McGowan, Simon J; Phipps, Julie M; Fenwick, Aimée L; Johnson, David; Wall, Steven A; Noons, Peter; Rees, Katie E M; Tidey, Elizabeth A; Craft, Judith; Taylor, John; Taylor, Jenny C; Goos, Jacqueline A C; Swagemakers, Sigrid M A; Mathijssen, Irene M J; van der ...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 4(2017)
Page Start:
260
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. Issue 2 (12th January 2021)

Authors:
Calpena, Eduardo; Wurmser, Maud; McGowan, Simon J; Atique, Rodrigo; Bertola, Débora R; Cunningham, Michael L; Gustafson, Jonas A; Johnson, David; Morton, Jenny E V; Passos-Bueno, Maria Rita; Timberlake, Andrew T; Lifton, Richard P; Wall, Steven A; Twigg, Stephen R F; Maire, Pascal; Wilkie, Andrew...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 2(2022)
Page Start:
165
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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