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Indira B. Taylor

Observed names: I B Taylor, I.B. Taylor, Indira B Taylor, Indira B. Taylor, Taylor, Indira B.
OpenAlex ID: A5111901686
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis
2017 · Tobias Schwerd, Stephen R.F. Twigg, et al. · The Journal of Experimental Medicine · 209
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors
2009 · Anne Goriely, Ruth M S Hansen, et al. · Nature Genetics · 207
Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis
2016 · Aimee L. Fenwick, Maciej Kliszczak, et al. · The American Journal of Human Genetics · 119
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Clinical dividends from the molecular genetic diagnosis of craniosynostosis
2006 · Andrew O.M. Wilkie, Elena G. Bochukova, et al. · American Journal of Medical Genetics Part A · 106
The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males
2006 · Stephen R.F. Twigg, Kazuya Matsumoto, et al. · The American Journal of Human Genetics · 105
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Clinical dividends from the molecular genetic diagnosis of craniosynostosis†
2007 · Andrew O.M. Wilkie, Elena G. Bochukova, et al. · American Journal of Medical Genetics Part A · 89
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline
2013 · Eleni Giannoulatou, Gilean McVean, et al. · Proceedings of the National Academy of Sciences · 86
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype
2005 · Lampros A Mavrogiannis, Indira B Taylor, et al. · European Journal of Human Genetics · 85
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A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb
2008 · Dominic Furniss, Laura A. Lettice, et al. · Human Molecular Genetics · 82
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Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis
2004 · Sahan V. Rannan-Eliya, Indira B. Taylor, et al. · Human Genetics · 74
Rare mutations ofFGFR2causing apert syndrome: identification of the first partial gene deletion, and anAluelement insertion from a new subfamily
2008 · Elena G. Bochukova, Tony Roscioli, et al. · Human Mutation · 68
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Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery
2009 · D Furniss, S-h Kan, et al. · Journal of Medical Genetics · 45
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Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism
2007 · B. Collin, I.B. Taylor, et al. · British Journal of Dermatology · 27
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome
2004 · Thomy J L de Ravel, Indira B Taylor, et al. · European Journal of Human Genetics · 24
The Fibroblast Growth Factor Receptor 2 p. A la172 P he Mutation in Pfeiffer Syndrome— H istory Repeating Itself
2013 · Sally Jay, Akira Wiberg, et al. · American Journal of Medical Genetics Part A · 10
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Erratum: Clinical dividends from the molecular genetic diagnosis of craniosynostosis (Journal of Medical Genetics Part A 140A, (2631-2639))
2007 · Wilkie Aom., Elena G. Bochukova, et al. · American Journal of Medical Genetics Part A · 7
Paternal Age Effect and Selfish Mutations
2012 · Anne Goriely, G. Maher, et al. · Schizophrenia Research · 1
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis
2017 · Tobias Schwerd, Stephen R.F. Twigg, et al. · Newcastle University ePrints (Newcastle Univesity)
Works count: 22
Citation count: 1,344
H-index: 14
I10-index: 15
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