K. Doudney

发表

Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy

V. Cameron, T. Merriman, J. Pearson, 2017, Scientific Reports.

Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy

V. Cameron, T. Merriman, J. Pearson, 2017, bioRxiv.

Sudden Cardiac Death due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 Authors

McFarland, T. Meitinger, T. Strom, 2016 .

Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects

J. Whittaker, N. Greene, A. Copp, 2009, American journal of medical genetics. Part A.

A family with pseudodominant Friedreich’s ataxia showing marked variation of phenotype between affected siblings

Michael K. Hutchinson, S. Webb, M. Pook, 1999, Journal of neurology, neurosurgery, and psychiatry.

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

R. Stevenson, N. Greene, A. Copp, 2012, Human mutation.

Analysis of the planar cell polarity gene Vangl2 and its co‐expressed paralogue Vangl1 in neural tube defect patients

R. Stevenson, N. Greene, A. Copp, 2005, American journal of medical genetics. Part A.

TBX22 mutations are a frequent cause of cleft palate

M. Patton, J. Murray, A. Richieri‐Costa, 2004, Journal of Medical Genetics.

Comparing the variants of takotsubo syndrome: an observational study of the ECG and structural changes from a New Zealand tertiary hospital

M. Kennedy, P. Bridgman, C. Lacey, 2019, BMJ Open.

The Friedreich's ataxia gene encodes a novel phosphatidylinositol–4–phosphate 5–kinase

R. Williamson, J. Hsuan, S. Minogue, 1996, Nature Genetics.

Comparative Physical and Transcript Maps of ∼1 Mb around loop-tail, a Gene for Severe Neural Tube Defects on Distal Mouse Chromosome 1 and Human Chromosome 1q22–q23

S. Gregory, A. Copp, P. Stanier, 2001 .

Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification.

A. Copp, P. Stanier, C. Paternotte, 2001, Human molecular genetics.

Genomic organization and embryonic expression of igsf8, an immunoglobulin superfamily member implicated in development of the nervous system and organ epithelia

A. Copp, D. Gerrelli, P. Stanier, 2003, Molecular and Cellular Neuroscience.

Autosomal-dominant Ankyloglossia and Tooth Number Anomalies

L. M. de Paula, K. Doudney, J. Grinham, 2010, Journal of dental research.

Cloning and characterization of Igsf9 in mouse and human: a new member of the immunoglobulin superfamily expressed in the developing nervous system.

A. Copp, P. Stanier, C. Paternotte, 2002, Genomics.

Mutations in the Planar Cell Polarity Genes CELSR 1 and SCRIB are Associated with the Severe Neural Tube Defect

R. Stevenson, N. Greene, A. Copp, 2012 .

Abnormal folate metabolism in foetuses affected by neural tube defects.

Katie A. Burren, N. Greene, A. Copp, 2006, Brain : a journal of neurology.

Epithelial cell polarity genes are required for neural tube closure

P. Stanier, K. Doudney, 2005, American journal of medical genetics. Part C, Seminars in medical genetics.

Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse.

A. Copp, D. Henderson, P. Stanier, 2003, Human molecular genetics.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Robert W. Taylor, D. Fisk, R. Weintraub, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

Robert W. Taylor, W. Chung, D. Fisk, 2021, Genetics in Medicine.

TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.

J. Brosens, A. Kispert, P. Stanier, 2007, American journal of human genetics.

PPA2 gene is involved in neonatal fatal acute dilated cardiomyopathy

A. Rötig, S. Lyonnet, J. Amiel, 2018, Archives of Cardiovascular Diseases Supplements.

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.

M. Patton, T. Strachan, S. Lindsay, 2002, Human molecular genetics.

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia

P. Goodfellow, M. Patton, P. Stanier, 2001, Nature Genetics.

G-Quadruplex Structures and CpG Methylation Cause Drop-Out of the Maternal Allele in Polymerase Chain Reaction Amplification of the Imprinted MEST Gene Promoter

Michael R. Eccles, Kit Doudney, M. Eccles, 2014, PloS one.

Exome sequencing and array-based comparative genomic hybridisation analysis of preferential 6-methylmercaptopurine producers

M. Kennedy, M. Barclay, E. Chua, 2015, The Pharmacogenomics Journal.

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

Colin A. Johnson, E. R. Baumgartner, T. Meitinger, 2016, American journal of human genetics.

Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy

V. Cameron, T. Merriman, J. Pearson, 2017, bioRxiv.

Valproic acid exposure leads to upregulation and increased promoter histone acetylation of sepiapterin reductase in a serotonergic cell line

M. Kennedy, M. Hampton, Al Deng, 2015, Neuropharmacology.

Upstream genetic variant near INSIG2, influences response to carnitine supplementation in bipolar patients with valproate-induced weight gain

K. Doudney, A. Aitchison, A. Miller, 2009, Acta Neuropsychiatrica.

Friedreich's ataxia: a defect in signal transduction?

R. Williamson, M. Pook, D. Wilkes, 1995, Human molecular genetics.

Genetic Recombination Events Which Position the Friedreich Ataxia Locus Proximal to the D 9 S I 5 / D 9 S 5 Linkage Group on Chromosome 9 q

M. Farrall, G. Sirugo, M. Pandolfo, 2006 .

Exon-intron structure of a 2.7-kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity.

M. Pook, R. Hillermann, S. Chamberlain, 1997, Genomics.

Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q.

M. Farrall, G. Sirugo, R. Williamson, 1993, American journal of human genetics.