Publications by authors named "Christian Babbs"

28Publications

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.

Br J Haematol 2019 05 5;185(3):436-449. Epub 2019 Mar 5.

MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1111/bjh.15817DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6519365PMC
May 2019

Characterizing and Modeling Bone Formation during Mouse Calvarial Development.

Phys Rev Lett 2019 Feb;122(4):048103

Department of Mechanical Engineering, University College London, Torrington Place, London, WC1E 7JE, United Kingdom.

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http://dx.doi.org/10.1103/PhysRevLett.122.048103DOI Listing
February 2019

Predicting calvarial growth in normal and craniosynostotic mice using a computational approach.

J Anat 2018 03 15;232(3):440-448. Epub 2017 Dec 15.

Department of Mechanical Engineering, University College London, London, UK.

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http://dx.doi.org/10.1111/joa.12764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5807955PMC
March 2018

An international registry of survivors with Hb Bart's hydrops fetalis syndrome.

Blood 2017 03 5;129(10):1251-1259. Epub 2017 Jan 5.

Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom; and.

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http://dx.doi.org/10.1182/blood-2016-08-697110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5345731PMC
March 2017

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

Authors:
Jenny C Taylor Hilary C Martin Stefano Lise John Broxholme Jean-Baptiste Cazier Andy Rimmer Alexander Kanapin Gerton Lunter Simon Fiddy Chris Allan A Radu Aricescu Moustafa Attar Christian Babbs Jennifer Becq David Beeson Celeste Bento Patricia Bignell Edward Blair Veronica J Buckle Katherine Bull Ondrej Cais Holger Cario Helen Chapel Richard R Copley Richard Cornall Jude Craft Karin Dahan Emma E Davenport Calliope Dendrou Olivier Devuyst Aimée L Fenwick Jonathan Flint Lars Fugger Rodney D Gilbert Anne Goriely Angie Green Ingo H Greger Russell Grocock Anja V Gruszczyk Robert Hastings Edouard Hatton Doug Higgs Adrian Hill Chris Holmes Malcolm Howard Linda Hughes Peter Humburg David Johnson Fredrik Karpe Zoya Kingsbury Usha Kini Julian C Knight Jonathan Krohn Sarah Lamble Craig Langman Lorne Lonie Joshua Luck Davis McCarthy Simon J McGowan Mary Frances McMullin Kerry A Miller Lisa Murray Andrea H Németh M Andrew Nesbit David Nutt Elizabeth Ormondroyd Annette Bang Oturai Alistair Pagnamenta Smita Y Patel Melanie Percy Nayia Petousi Paolo Piazza Sian E Piret Guadalupe Polanco-Echeverry Niko Popitsch Fiona Powrie Chris Pugh Lynn Quek Peter A Robbins Kathryn Robson Alexandra Russo Natasha Sahgal Pauline A van Schouwenburg Anna Schuh Earl Silverman Alison Simmons Per Soelberg Sørensen Elizabeth Sweeney John Taylor Rajesh V Thakker Ian Tomlinson Amy Trebes Stephen Rf Twigg Holm H Uhlig Paresh Vyas Tim Vyse Steven A Wall Hugh Watkins Michael P Whyte Lorna Witty Ben Wright Chris Yau David Buck Sean Humphray Peter J Ratcliffe John I Bell Andrew Om Wilkie David Bentley Peter Donnelly Gilean McVean

Nat Genet 2015 Jul 18;47(7):717-726. Epub 2015 May 18.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1038/ng.3304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601524PMC
July 2015

Mechanical properties of calvarial bones in a mouse model for craniosynostosis.

PLoS One 2015 12;10(5):e0125757. Epub 2015 May 12.

Medical and Biological Engineering, School of Engineering, University of Hull, Hull, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0125757PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429024PMC
February 2016

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

J Med Genet 2014 Nov 16;51(11):737-47. Epub 2014 Sep 16.

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK NIHR Biomedical Research Centre, Oxford, UK Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215269PMC
November 2014

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.

Hum Mutat 2011 Aug 12;32(8):930-8. Epub 2011 Jul 12.

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

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http://dx.doi.org/10.1002/humu.21521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170877PMC
August 2011

Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.

Dev Dyn 2009 Feb;238(2):331-42

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1002/dvdy.21790DOI Listing
February 2009

Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog.

Mech Dev 2008 May-Jun;125(5-6):517-26. Epub 2008 Jan 11.

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

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http://dx.doi.org/10.1016/j.mod.2008.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2428104PMC
August 2008

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.

Hum Genet 2007 Sep 14;122(2):191-9. Epub 2007 Jun 14.

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

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http://dx.doi.org/10.1007/s00439-007-0390-7DOI Listing
September 2007

The craniofacial phenotype of the Crouzon mouse: analysis of a model for syndromic craniosynostosis using three-dimensional MicroCT.

Cleft Palate Craniofac J 2006 Nov;43(6):740-8

Division of Plastic Surgery, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1597/05-212DOI Listing
November 2006

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Proc Natl Acad Sci U S A 2004 Jun 27;101(23):8652-7. Epub 2004 May 27.

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

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http://dx.doi.org/10.1073/pnas.0402819101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC423250PMC
June 2004

Developmental mechanisms underlying polydactyly in the mouse mutant Doublefoot.

J Anat 2003 Jan;202(1):21-6

Department of Human Anatomy and Genetics, South Parks Road, Oxford OX1 3QX, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1571056PMC
http://dx.doi.org/10.1046/j.1469-7580.2003.00132.xDOI Listing
January 2003