K. Miller

发表

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

Davis J. McCarthy, Calliope A. Dendrou, Lisa J. Murray, 2015, Nature Genetics.

Eeyore: A Novel Mouse Model of Hereditary Deafness

H. Dahl, K. Miller, Louise H. Williams, 2013, PloS one.

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

H. Dahl, K. Miller, Louise H. Williams, 2013, Hearing Research.

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

A. V. D. van den Ouweland, M. Lequin, S. Twigg, 2015, American journal of human genetics.

Prediction and characterisation of a highly conserved, remote and cAMP responsive enhancer that regulates Msx1 gene expression in cardiac neural crest and outflow tract.

J. Barrow, S. Davidson, A. MacKenzie, 2008, Developmental biology.

A Mouse Splice-Site Mutant and Individuals with Atypical Chromosome 22q11.2 Deletions Demonstrate the Crucial Role for Crkl in Craniofacial and Pharyngeal Development

Z. Stark, J. Bertram, P. Farlie, 2014, Molecular Syndromology.

Characterisation of a β-tubulin gene from the monogenean parasite, Gyrodactylus salaris Malmberg, 1957

C. Collins, C. O. Cunningham, K. Miller, 2004, Parasitology Research.

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

S. Holland, D. Schmidt-Arras, S. Twigg, 2017, The Journal of experimental medicine.

A highly conserved Wnt-dependent TCF4 binding site within the proximal enhancer of the anti-myogenic Msx1 gene supports expression within Pax3-expressing limb bud muscle precursor cells.

J. Barrow, S. Davidson, A. MacKenzie, 2007, Developmental biology.

Inner Ear Morphology Is Perturbed in Two Novel Mouse Models of Recessive Deafness

H. Dahl, K. Miller, E. Rose, 2012, PloS one.

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

D. Horn, J. Clayton-Smith, Jenny C. Taylor, 2016, American journal of human genetics.

Postgenomic bioinformatic analysis of yeast artificial chromosome sequence.

Kerry Miller, Scott Davidson, Alasdair MacKenzie, 2006, Methods in molecular biology.

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

Rachel L. Taylor, R. Pfundt, M. Reijnders, 2018, American journal of human genetics.

Diagnostic value of exome and whole genome sequencing in craniosynostosis

J. Hurst, Jenny C. Taylor, S. Twigg, 2016, Journal of Medical Genetics.

A Mutation in Synaptojanin 2 Causes Progressive Hearing Loss in the ENU-Mutagenised Mouse Strain Mozart

M. Bahlo, C. Mitchell, H. Dahl, 2011, PloS one.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

E. Zackai, C. Ponting, L. Sánchez-Pulido, 2016, American journal of human genetics.

Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome

J. Bertram, P. Farlie, M. Freckmann, 2013, PLoS genetics.

Is there a functional link between gene interdigitation and multi-species conservation of synteny blocks?

A. MacKenzie, K. Miller, J. M. Collinson, 2004, BioEssays : news and reviews in molecular, cellular and developmental biology.

bfb, a Novel ENU-Induced blebs Mutant Resulting from a Missense Mutation in Fras1

J. Bertram, P. Farlie, K. Miller, 2013, PloS one.

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis

A. Wilkie, A. D. de Brouwer, K. Miller, 2021, Journal of Medical Genetics.

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

D. Newgreen, P. Farlie, K. Miller, 2015, Gene expression patterns : GEP.

Genome-Wide ENU Mutagenesis in Combination with High Density SNP Analysis and Exome Sequencing Provides Rapid Identification of Novel Mouse Models of Developmental Disease

A. Hart, M. Wallace, B. Whittle, 2013, PloS one.

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

P. Farlie, K. Miller, C. Gordon, 2015, Developmental dynamics : an official publication of the American Association of Anatomists.

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

Nils Koelling, Marie Bernkopf, Eduardo Calpena, 2019, Bioinform..

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

H. Dahl, K. Miller, Louise H. Williams, 2012, The American journal of pathology.

Molecular Pathogenesis of Genetic and Inherited Diseases Identification of Three Novel Hearing Loss Mouse Strains with Mutations in the Tmc 1 Gene

H. Dahl, K. Miller, Louise H. Williams, 2012 .

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

M. Bahlo, H. Dahl, K. Miller, 2011, The American journal of pathology.

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

Nils Koelling, Marie Bernkopf, Eduardo Calpena, 2019, Bioinform..