Hilary C Martin

Hilary C Martin

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Hilary C Martin

Hilary C Martin

Publications by authors named "Hilary C Martin"

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Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

Am J Hum Genet 2016 05 14;98(5):830-842. Epub 2016 Apr 14.

Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863475PMC
May 2016

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

Clin Immunol 2015 Oct 26;160(2):301-14. Epub 2015 Jun 26.

Nuffield Department of Medicine, University of Oxford, Oxford, UK; Oxford NIHR Biomedical Research Centre, John Radcliffe Hospital, Oxford, UK. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2015.05.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601528PMC
October 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

Human slack potassium channel mutations increase positive cooperativity between individual channels.

Cell Rep 2014 Dec 4;9(5):1661-1672. Epub 2014 Dec 4.

Department of Pharmacology, Yale University, New Haven, CT 06520, USA; Department of Cellular and Molecular Physiology, Yale University, New Haven, CT 06520, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294418PMC
December 2014

MicroRNA-182-5p targets a network of genes involved in DNA repair.

RNA 2013 Feb 18;19(2):230-42. Epub 2012 Dec 18.

Queensland Centre for Medical Genomics, Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD, Australia.

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http://dx.doi.org/10.1261/rna.034926.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3543090PMC
February 2013

Evolution of a membrane protein regulon in Saccharomyces.

Mol Biol Evol 2012 Jul 20;29(7):1747-56. Epub 2012 Jan 20.

Department of Molecular and Cell Biology, University of California, Berkeley, USA.

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http://dx.doi.org/10.1093/molbev/mss017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3375471PMC
July 2012