Aimee L Fenwick

Aimee L Fenwick

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Aimee L Fenwick

Aimee L Fenwick

Publications by authors named "Aimee L Fenwick"

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15Publications

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Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.

Hum Mutat 2018 10 7;39(10):1360-1365. Epub 2018 Aug 7.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1002/humu.23598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175480PMC
October 2018

TCF12 microdeletion in a 72-year-old woman with intellectual disability.

Am J Med Genet A 2015 Aug 13;167A(8):1897-901. Epub 2015 Apr 13.

Centre de génétique humaine, Université de Franche-Comté, Besançon, France.

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http://dx.doi.org/10.1002/ajmg.a.37083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654244PMC
August 2015

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

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.

BMC Med Genet 2012 Nov 9;13:104. Epub 2012 Nov 9.

Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK.

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http://dx.doi.org/10.1186/1471-2350-13-104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3532175PMC
November 2012

A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome.

BMC Med Genet 2011 Sep 23;12:122. Epub 2011 Sep 23.

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

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2350-12-122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3192734PMC
September 2011