Indira B Taylor

Indira B Taylor

UNVERIFIED PROFILE

Are you Indira B Taylor?   Register this Author

Register author
Indira B Taylor

Indira B Taylor

Publications by authors named "Indira B Taylor"

Are you Indira B Taylor?   Register this Author

13Publications

604Reads

14Profile Views

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

Authors:
Tobias Schwerd Stephen R F Twigg Dominik Aschenbrenner Santiago Manrique Kerry A Miller Indira B Taylor Melania Capitani Simon J McGowan Elizabeth Sweeney Astrid Weber Liye Chen Paul Bowness Andrew Riordan Andrew Cant Alexandra F Freeman Joshua D Milner Steven M Holland Natalie Frede Miryam Müller Dirk Schmidt-Arras Bodo Grimbacher Steven A Wall E Yvonne Jones Andrew O M Wilkie Holm H Uhlig

J Exp Med 2017 Sep 26;214(9):2547-2562. Epub 2017 Jul 26.

Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, England, UK

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1084/jem.20161810DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584118PMC
September 2017

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

Authors:
Aimee L Fenwick Maciej Kliszczak Fay Cooper Jennie Murray Luis Sanchez-Pulido Stephen R F Twigg Anne Goriely Simon J McGowan Kerry A Miller Indira B Taylor Clare Logan Sevcan Bozdogan Sumita Danda Joanne Dixon Solaf M Elsayed Ezzat Elsobky Alice Gardham Mariette J V Hoffer Marije Koopmans Donna M McDonald-McGinn Gijs W E Santen Ravi Savarirayan Deepthi de Silva Olivier Vanakker Steven A Wall Louise C Wilson Ozge Ozalp Yuregir Elaine H Zackai Chris P Ponting Andrew P Jackson Andrew O M Wilkie Wojciech Niedzwiedz Louise S Bicknell

Am J Hum Genet 2016 07 30;99(1):125-38. Epub 2016 Jun 30.

MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh EH4 2XU, UK; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, Otago 9016, New Zealand. Electronic address:

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ajhg.2016.05.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5005452PMC
July 2016

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

Authors:
Eleni Giannoulatou Gilean McVean Indira B Taylor Simon J McGowan Geoffrey J Maher Zamin Iqbal Susanne P Pfeifer Isaac Turner Emma M M Burkitt Wright Jennifer Shorto Aysha Itani Karen Turner Lorna Gregory David Buck Ewa Rajpert-De Meyts Leendert H J Looijenga Bronwyn Kerr Andrew O M Wilkie Anne Goriely

Proc Natl Acad Sci U S A 2013 Dec 20;110(50):20152-7. Epub 2013 Nov 20.

Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, United Kingdom.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1073/pnas.1311381110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3864328PMC
December 2013

The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself.

Authors:
Sally Jay Akira Wiberg Marc Swan Tracy Lester Louise J Williams Indira B Taylor David Johnson Andrew O M Wilkie

Am J Med Genet A 2013 May 26;161A(5):1158-63. Epub 2013 Mar 26.

Department of Plastic Surgery, John Radcliffe Hospital, Oxford, UK.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.35842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652025PMC
May 2013

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

Authors:
Anne Goriely Ruth M S Hansen Indira B Taylor Inge A Olesen Grete Krag Jacobsen Simon J McGowan Susanne P Pfeifer Gilean A T McVean Ewa Rajpert-De Meyts Andrew O M Wilkie

Nat Genet 2009 Nov 25;41(11):1247-52. Epub 2009 Oct 25.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/ng.470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2817493PMC
November 2009

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

Authors:
Elena G Bochukova Tony Roscioli Dale J Hedges Indira B Taylor David Johnson David J David Prescott L Deininger Andrew O M Wilkie

Hum Mutat 2009 Feb;30(2):204-11

Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.

View Article

Download full-text PDF

 Source
http://doi.wiley.com/10.1002/humu.20825
Publisher Site
http://dx.doi.org/10.1002/humu.20825DOI Listing
February 2009

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb.

Authors:
Dominic Furniss Laura A Lettice Indira B Taylor Paul S Critchley Henk Giele Robert E Hill Andrew O M Wilkie

Hum Mol Genet 2008 Aug 7;17(16):2417-23. Epub 2008 May 7.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1093/hmg/ddn141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2486440PMC
August 2008

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Authors:
Andrew O M Wilkie Elena G Bochukova Ruth M S Hansen Indira B Taylor Sahan V Rannan-Eliya Jo C Byren Steven A Wall Lina Ramos Margarida Venâncio Jane A Hurst Anthony W O'rourke Louise J Williams Anneke Seller Tracy Lester

Am J Med Genet A 2007 Aug;143A(16):1941-9

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.31905DOI Listing
August 2007

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Authors:
Andrew O M Wilkie Elena G Bochukova Ruth M S Hansen Indira B Taylor Sahan V Rannan-Eliya Jo C Byren Steven A Wall Lina Ramos Margarida Venâncio Jane A Hurst Anthony W O'Rourke Louise J Williams Anneke Seller Tracy Lester

Am J Med Genet A 2006 Dec;140(23):2631-9

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.31366DOI Listing
December 2006

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

Authors:
Stephen R F Twigg Kazuya Matsumoto Alexa M J Kidd Anne Goriely Indira B Taylor Richard B Fisher A Jeannette M Hoogeboom Irene M J Mathijssen M Teresa Lourenco Jenny E V Morton Elizabeth Sweeney Louise C Wilson Han G Brunner John B Mulliken Steven A Wall Andrew O M Wilkie

Am J Hum Genet 2006 Jun 28;78(6):999-1010. Epub 2006 Apr 28.

Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, United Kingdom.

View Article

Download full-text PDF

 Source
http://linkinghub.elsevier.com/retrieve/pii/S000292970763921
Publisher Site
http://dx.doi.org/10.1086/504440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474108PMC
June 2006

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

Authors:
Lampros A Mavrogiannis Indira B Taylor Sally J Davies Feliciano J Ramos José L Olivares Andrew O M Wilkie

Eur J Hum Genet 2006 Feb;14(2):151-8

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

View Article

Download full-text PDF

 Source
http://www.nature.com/articles/5201526
Publisher Site
http://dx.doi.org/10.1038/sj.ejhg.5201526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1477589PMC
February 2006

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.

Authors:
Thomy J L de Ravel Indira B Taylor Alex J T Van Oostveldt Jean-Pierre Fryns Andrew O M Wilkie

Eur J Hum Genet 2005 Apr;13(4):503-5

Center for Human Genetics, UZ Gasthuisberg, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

 Source
http://www.nature.com/articles/5201325
Publisher Site
http://dx.doi.org/10.1038/sj.ejhg.5201325DOI Listing
April 2005

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.

Authors:
Sahan V Rannan-Eliya Indira B Taylor I Marieke De Heer Ans M W Van Den Ouweland Steven A Wall Andrew O M Wilkie

Hum Genet 2004 Aug 7;115(3):200-7. Epub 2004 Jul 7.

NDCLS, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe, Headington, Oxford, UK.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1007/s00439-004-1151-5DOI Listing
August 2004