List of works - Albert E Chudley

Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis

scientific article

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

scientific journal article

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

scientific article

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

scientific article

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

scientific article

Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality

scientific article published on March 2004

Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan

scientific article published on 14 December 2015

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

scientific journal article

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

scientific article

Comorbidity of fetal alcohol spectrum disorder: a systematic review and meta-analysis

scientific article published on 5 January 2016

The DLX1and DLX2 genes and susceptibility to autism spectrum disorders

scientific article

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

scientific article

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome

scientific article

CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

scientific article

DNA methylation signature of human fetal alcohol spectrum disorder.

scientific article published on 29 June 2016

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

scientific article

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

scientific article

Identifying fetal alcohol spectrum disorder in primary care

scientific article

Cost of fetal alcohol spectrum disorder diagnosis in Canada

scientific article

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid

scientific article

Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy

scientific article

Comparison of spatial working memory in children with prenatal alcohol exposure and those diagnosed with ADHD; A functional magnetic resonance imaging study

scientific article

Fetal alcohol spectrum disorder

scientific article

A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort

scientific article published on 24 September 2013

Challenges of diagnosis in fetal alcohol syndrome and fetal alcohol spectrum disorder in the adult

scientific article published on August 2007

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

scientific article

Congenital rickets caused by maternal vitamin D deficiency

scientific article published on September 2002

Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol Exposure

scientific article

Variation in rates of uptake of preventive options by Canadian women carrying the BRCA1 or BRCA2 genetic mutation.

scientific article

Human Brain Abnormalities Associated With Prenatal Alcohol Exposure and Fetal Alcohol Spectrum Disorder

scientific article published on September 2017

2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders

scientific article published on 13 July 2011

Visual search for feature conjunctions: an fMRI study comparing alcohol-related neurodevelopmental disorder (ARND) to ADHD

scientific article published on March 4, 2015

Normal distribution of palpebral fissure lengths in Canadian school age children.

scientific article published on 10 February 2010

Overview of the Genetic Basis and Epigenetic Mechanisms that Contribute to FASD Pathobiology

scientific article

The differential diagnosis of fetal alcohol spectrum disorder

scientific article published on February 10, 2014

Solvent abuse in pregnancy: a perinatal perspective.

scientific article

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).

scientific article

Genetics and cardiac anomalies: the heart of the matter

scientific article

Oncogenic codon 13 NRAS mutation in a primary mesenchymal brain neoplasm and nevus of a child with neurocutaneous melanosis.

scientific article

Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome

scientific article published on November 7, 2013

Screening and referral to identify children at risk for FASD: Search for new methods 2006-2013

scientific article published on 09 July 2014

Concordance of three methods for palpebral fissure length measurement in the assessment of fetal alcohol spectrum disorder

scientific article

Increased Nuchal Translucency Thickness: A Potential Indicator for Ritscher-Schinzel Syndrome

scientific article (publication date: 2008)

Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts.

scientific article

Fetal Alcohol Spectrum Disorder Diagnosis: Current Practices and Future Considerations

scientific article

List of works by Albert E Chudley

Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality

Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

Comorbidity of fetal alcohol spectrum disorder: a systematic review and meta-analysis

The DLX1and DLX2 genes and susceptibility to autism spectrum disorders

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome

CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

DNA methylation signature of human fetal alcohol spectrum disorder.

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Identifying fetal alcohol spectrum disorder in primary care

Cost of fetal alcohol spectrum disorder diagnosis in Canada

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid

Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy

Comparison of spatial working memory in children with prenatal alcohol exposure and those diagnosed with ADHD; A functional magnetic resonance imaging study

Fetal alcohol spectrum disorder

A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort

Challenges of diagnosis in fetal alcohol syndrome and fetal alcohol spectrum disorder in the adult

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

Congenital rickets caused by maternal vitamin D deficiency

Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol Exposure

Variation in rates of uptake of preventive options by Canadian women carrying the BRCA1 or BRCA2 genetic mutation.

Human Brain Abnormalities Associated With Prenatal Alcohol Exposure and Fetal Alcohol Spectrum Disorder

2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders

Visual search for feature conjunctions: an fMRI study comparing alcohol-related neurodevelopmental disorder (ARND) to ADHD

Normal distribution of palpebral fissure lengths in Canadian school age children.

Overview of the Genetic Basis and Epigenetic Mechanisms that Contribute to FASD Pathobiology

The differential diagnosis of fetal alcohol spectrum disorder

Solvent abuse in pregnancy: a perinatal perspective.

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).

Genetics and cardiac anomalies: the heart of the matter

Oncogenic codon 13 NRAS mutation in a primary mesenchymal brain neoplasm and nevus of a child with neurocutaneous melanosis.

Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome

Screening and referral to identify children at risk for FASD: Search for new methods 2006-2013

Concordance of three methods for palpebral fissure length measurement in the assessment of fetal alcohol spectrum disorder

Increased Nuchal Translucency Thickness: A Potential Indicator for Ritscher-Schinzel Syndrome

Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts.

Fetal Alcohol Spectrum Disorder Diagnosis: Current Practices and Future Considerations