List of works - Kit Doudney

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

scientific article (publication date: 15 January 2003)

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

scientific article

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

scientific article

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

scientific article published in July 2005

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

article

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

scientific journal article

G-quadruplex structures and CpG methylation cause drop-out of the maternal allele in polymerase chain reaction amplification of the imprinted MEST gene promoter

scientific article

Autosomal-dominant ankyloglossia and tooth number anomalies

scientific article published on 30 December 2009

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

scientific article published on 4 July 2015

Genomic organization and embryonic expression of Igsf8, an immunoglobulin superfamily member implicated in development of the nervous system and organ epithelia

scientific article published in January 2003

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

scientific article published on 15 May 2018

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

article

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

scientific article published in June 2009

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

scientific article published on 10 March 2015

Potential link between copy number variation and abnormal genome wide DNA methylation profile in an individual with severe ADHD and a strong response to micronutrient treatment

scientific article published in June 2025

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

article

List of works by Kit Doudney

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

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

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

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

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

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

G-quadruplex structures and CpG methylation cause drop-out of the maternal allele in polymerase chain reaction amplification of the imprinted MEST gene promoter

Autosomal-dominant ankyloglossia and tooth number anomalies

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

Genomic organization and embryonic expression of Igsf8, an immunoglobulin superfamily member implicated in development of the nervous system and organ epithelia

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

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

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

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

Potential link between copy number variation and abnormal genome wide DNA methylation profile in an individual with severe ADHD and a strong response to micronutrient treatment

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