Kerry A Miller

Kerry A Miller

UNVERIFIED PROFILE

Are you Kerry A Miller?   Register this Author

Register author
Kerry A Miller

Kerry A Miller

Publications by authors named "Kerry A Miller"

Are you Kerry A Miller?   Register this Author

20Publications

693Reads

8Profile Views

amplimap: a versatile tool to process and analyze targeted NGS data.

Bioinformatics 2019 Jul 26. Epub 2019 Jul 26.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/bioinformatics/btz582DOI Listing
July 2019

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:

View Article

Download full-text PDF

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

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:

View Article

Download full-text PDF

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

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:

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/dvdy.24299
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029440110040
Publisher Site
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.

View Article

Download full-text PDF

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