A. Chudley

Most-cited papers

Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan
Jocelynn L. Cook, Courtney R. Green, C. Lilley, Sally M. Anderson +10 more
2016Canadian Medical Association Journal507 citations Open access
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Comorbidity of fetal alcohol spectrum disorder: a systematic review and meta-analysis.
S. Popova, S. Lange, K. Shield, A. Mihic +4 more
2016The Lancet445 citations
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An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
G. Wheway, M. Schmidts, D. A. Mans, K. Szymanska +72 more
2015Nature Cell Biology240 citations Open access
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Kabuki syndrome: international consensus diagnostic criteria
M. Adam, S. Banka, H. Bjornsson, O. Bodamer +10 more
2018Journal of Medical Genetics218 citations Open access
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Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
K. Boycott, C. Beaulieu, K. Kernohan, O. Gebril +22 more
2015American Journal of Human Genetics208 citations Open access
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TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Li-Jia Huang, K. Szymanska, Victor L Jensen, A. Janecke +39 more
2011American Journal of Human Genetics207 citations Open access
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Disruption at the PTCHD1 locus on Xp22.11 in autism spectrum disorder and intellectual disability
A. Noor, Annabel C. Whibley, C. Marshall, P. Gianakopoulos +52 more
2010Science Translational Medicine207 citations Open access
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Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
R. Hood, Matthew A. Lines, S. Nikkel, J. Schwartzentruber +24 more
2012American Journal of Human Genetics187 citations Open access
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CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
Kevin A. Strauss, R. N. Jinks, E. Puffenberger, S. Venkatesh +18 more
2015American Journal of Human Genetics151 citations Open access
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DNA methylation signature of human fetal alcohol spectrum disorder
E. Portales-Casamar, A. Lussier, Meaghan J. Jones, J. MacIsaac +11 more
2016Epigenetics & Chromatin140 citations Open access
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Face–brain asymmetry in autism spectrum disorders
P. Hammond, Cynthia J. Forster-Gibson, A. Chudley, J. Allanson +5 more
2008Molecular Psychiatry135 citations Open access
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GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.
D. Doherty, A. Chudley, G. Coghlan, G. Ishak +14 more
2012American Journal of Human Genetics118 citations Open access
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Population-based prevalence of fetal alcohol spectrum disorder in Canada
S. Popova, S. Lange, V. Poznyak, A. Chudley +4 more
2019BMC Public Health105 citations Open access
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Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol Exposure
S. Treit, Dongming Zhou, A. Chudley, G. Andrew +6 more
2016PLoS ONE100 citations Open access
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Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
R. Shaheen, H. Shamseldin, C. Loucks, M. Seidahmed +18 more
2014American Journal of Human Genetics91 citations Open access
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DNA methylation as a predictor of fetal alcohol spectrum disorder
A. Lussier, Alexander M. Morin, J. MacIsaac, Jenny Salmon +5 more
2018Clinical Epigenetics90 citations Open access
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The DLX1and DLX2 genes and susceptibility to autism spectrum disorders
Xudong Liu, Natalia Novosedlik, Ami Wang, Melissa L. Hudson +5 more
2009European Journal of Human Genetics88 citations Open access
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It’s a Shame! Stigma Against Fetal Alcohol Spectrum Disorder: Examining the Ethical Implications for Public Health Practices and Policies
E. Bell, G. Andrew, N. D. Di Pietro, A. Chudley +2 more
201687 citations
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The Coffin-Siris syndrome: A Proposed Diagnostic Approach and Assessment of 15 Overlapping Cases
Samantha A. Schrier, Joann N. Bodurtha, B. Burton, A. Chudley +8 more
2012American Journal of Medical Genetics. Part A82 citations Open access
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Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1
A. Slavotinek, S. Baranzini, D. Schanze, Cassandre Labelle-Dumais +19 more
2011Journal of Medical Genetics82 citations Open access
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A novel mutation in KIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort
Alison M. Elliott, L. Simard, G. Coghlan, A. Chudley +6 more
2013Journal of Medical Genetics81 citations
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Human Brain Abnormalities Associated With Prenatal Alcohol Exposure and Fetal Alcohol Spectrum Disorder
J. S. Jarmasz, Duaa Basalah, A. Chudley, M. D. Del Bigio
2017Journal of Neuropathology and Experimental Neurology79 citations Open access
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Autism severity is associated with child and maternal MAOA genotypes
I. Cohen, Xu-Dong Liu, M. Lewis, A. Chudley +5 more
2011Clinical Genetics75 citations
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Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders
P. Malenfant, Xudong Liu, Melissa L. Hudson, Y. Qiao +10 more
2011Journal of Autism and Developmental Disorders73 citations
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Cost of Fetal Alcohol Spectrum Disorder Diagnosis in Canada
S. Popova, S. Lange, L. Burd, A. Chudley +2 more
2013PLoS ONE70 citations Open access
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Infantile Muscular Dystrophy in Canadian Aboriginals is an αB-Crystallinopathy
M. D. Del Bigio, A. Chudley, H. B. Sarnat, C. Campbell +3 more
2011Annals of Neurology67 citations Open access
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Correlates of age at diagnosis of autism spectrum disorders in six Canadian regions.
H. Coo, Hélène Ouellette-Kuntz, Lam Miu, C.-T. Yu +8 more
2012Chronic diseases and injuries in Canada57 citations Open access
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Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation.
J. Gronwald, K. Glass, B. Rosen, B. Karlan +76 more
2016Fertility and Sterility56 citations Open access
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Clinical genetics and the Hutterite population: A review of Mendelian disorders
K. Boycott, J. Parboosingh, B. Chodirker, R. B. Lowry +8 more
2008American Journal of Medical Genetics. Part A51 citations
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Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay
Eric A. Muller, S. Aradhya, Joan F. Atkin, Erin P. Carmany +12 more
2012American Journal of Medical Genetics. Part A47 citations Open access
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Normal distribution of palpebral fissure lengths in Canadian school age children.
S. Clarren, A. Chudley, L. Wong, J. Friesen +1 more
2010The Canadian journal of clinical pharmacology = Journal canadien de pharmacologie clinique47 citations
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Comparison of spatial working memory in children with prenatal alcohol exposure and those diagnosed with ADHD; A functional magnetic resonance imaging study
Krisztina L. Malisza, J. Buss, R. Bolster, Patricia Dreessen de Gervai +5 more
2012Journal of Neurodevelopmental Disorders44 citations Open access
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Unique disease heritage of the Dutch‐German Mennonite population
N. Orton, A. Innes, A. Chudley, N. Bech-Hansen
2008American Journal of Medical Genetics. Part A44 citations
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A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype
Li-Li Li, N. Hamel, K. Baker, Michael J. McGuffin +18 more
2015Journal of Medical Genetics43 citations
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Overview of the Genetic Basis and Epigenetic Mechanisms that Contribute to FASD Pathobiology.
V. R. B. Liyanage, Kyle Curtis, R. Zachariah, A. Chudley +1 more
2017Current Topics in Medicinal Chemistry41 citations
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SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.
David A. Parry, Clare V. Logan, A. Stegmann, Z. Abdelhamed +10 more
2013American Journal of Human Genetics39 citations Open access
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Fetal alcohol spectrum disorder: counting the invisible – mission impossible?
A. Chudley
2008Archives of Disease in Childhood38 citations
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2p15–p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders
Xudong Liu, P. Malenfant, Chelsea Reesor, Alana Lee +10 more
2011European Journal of Human Genetics35 citations Open access
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Functional magnetic resonance imaging of facial information processing in children with autistic disorder, attention deficit hyperactivity disorder and typically developing controls
K. Malisza, Christine A. Clancy, Deborah Shiloff, J. Holden +5 more
2011International Journal of Adolescent Medicine and Health35 citations
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Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH
C. Tyson, Y. Qiao, C. Harvard, Xudong Liu +19 more
2008Molecular Cytogenetics32 citations Open access
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Visual search for feature conjunctions: an fMRI study comparing alcohol-related neurodevelopmental disorder (ARND) to ADHD
Carrie R O’Conaill, K. Malisza, J. Buss, R. Bolster +4 more
2015Journal of Neurodevelopmental Disorders31 citations Open access
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The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers
Kwang-Pil Ko, Shana J. Kim, T. Huzarski, J. Gronwald +61 more
2018International Journal of Cancer30 citations Open access
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Health, Social, Education, and Justice Outcomes of Manitoba First Nations Children Diagnosed with Fetal Alcohol Spectrum Disorder: A Population-Based Cohort Study of Linked Administrative Data
M. Brownell, J. Enns, A. Hanlon-Dearman, D. Chateau +7 more
2018Canadian journal of psychiatry. Revue canadienne de psychiatrie28 citations Open access
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The differential diagnosis of fetal alcohol spectrum disorder.
Tom Leibson, G. Neuman, A. Chudley, G. Koren
2014Journal of population therapeutics and clinical pharmacology = Journal de la therapeutique des populations et de la pharamcologie clinique27 citations
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Trends in Telehealth versus On-site Clinical Genetics Appointments in Manitoba: A Comparative Study
Alison M. Elliott, A. Mhanni, S. Marles, C. Greenberg +3 more
2012Journal of Genetic Counseling25 citations Open access
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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
D. Dyment, A. O'Donnell-Luria, Pankaj B. Agrawal, Zeynep Coban Akdemir +70 more
2020American Journal of Medical Genetics. Part A20 citations Open access
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Oncogenic codon 13 NRAS mutation in a primary mesenchymal brain neoplasm and nevus of a child with neurocutaneous melanosis
Francis Shih, S. Yip, P. McDonald, A. Chudley +1 more
2014Acta Neuropathologica Communications20 citations Open access
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Use of health, education, and social services by individuals with fetal alcohol spectrum disorder.
M. Brownell, B. Hanlon-Dearman, L. Macwilliam, A. Chudley +3 more
2013Journal of population therapeutics and clinical pharmacology = Journal de la therapeutique des populations et de la pharamcologie clinique20 citations
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Diagnosis of fetal alcohol spectrum disorder: current practices and future considerations.
A. Chudley
2018Biochemistry and cell biology = Biochimie et biologie cellulaire19 citations
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Functional Evaluation of Hidden Figures Object Analysis in Children with Autistic Disorder
K. Malisza, Christine A. Clancy, Deborah Shiloff, Derek Foreman +6 more
2011Journal of Autism and Developmental Disorders19 citations
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