Publications by authors named "Kerry A Miller"

21Publications

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.

Am J Hum Genet 2015 Sep;97(3):378-88

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564895PMC
September 2015

Olfr603, an orphan olfactory receptor, is expressed in multiple specific embryonic tissues.

Gene Expr Patterns 2015 Sep-Nov;19(1-2):30-5. Epub 2015 Jun 23.

Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville and Department of Paediatrics, University of Melbourne, Parkville, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.gep.2015.06.002DOI Listing
September 2016

YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis.

Dev Dyn 2015 Aug 16;244(8):1022-30. Epub 2015 Jul 16.

Murdoch Children's Research Institute, Melbourne, Australia.

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http://doi.wiley.com/10.1002/dvdy.24299
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http://dx.doi.org/10.1002/dvdy.24299DOI Listing
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

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

Mol Syndromol 2014 Dec 8;5(6):276-86. Epub 2014 Nov 8.

Murdoch Childrens Research Institute, Department of Plastic and Maxillofacial Surgery, Royal Children's Hospital, Parkville, Vic., Australia ; Department of Paediatrics, University of Melbourne, Parkville, Vic., Australia.

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http://dx.doi.org/10.1159/000368865DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281577PMC
December 2014

Eeyore: a novel mouse model of hereditary deafness.

PLoS One 2013 23;8(9):e74243. Epub 2013 Sep 23.

Genetic Hearing Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0074243PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3781070PMC
July 2014

Characterization of a novel ENU-generated myosin VI mutant mouse strain with congenital deafness and vestibular dysfunction.

Hear Res 2013 May 26;299:53-62. Epub 2013 Feb 26.

Genetic Hearing Research Laboratory, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria 3052, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S03785955130005
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http://dx.doi.org/10.1016/j.heares.2013.02.006DOI Listing
May 2013

Inner ear morphology is perturbed in two novel mouse models of recessive deafness.

PLoS One 2012 12;7(12):e51284. Epub 2012 Dec 12.

Genetic Hearing Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0051284PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520982PMC
June 2013

Identification of three novel hearing loss mouse strains with mutations in the Tmc1 gene.

Am J Pathol 2012 Apr 11;180(4):1560-9. Epub 2012 Feb 11.

Genetic Hearing Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.ajpath.2011.12.034DOI Listing
April 2012

An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice.

Am J Pathol 2011 Aug 2;179(2):903-14. Epub 2011 Jun 2.

Genetic Hearing Research Laboratory, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S00029440110040
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http://dx.doi.org/10.1016/j.ajpath.2011.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157152PMC
August 2011

A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart.

PLoS One 2011 Mar 15;6(3):e17607. Epub 2011 Mar 15.

Genetic Hearing Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0017607PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3057978PMC
March 2011