Jeanette J.A. Holden, PhD, FCCMG


Jeanette was born in Vancouver and obtained her BSc and PhD with Dr. David Suzuki in Genetics. After completing a postdoctoral fellowship (funded by the Killam Foundation) at the Biozentrum in Basel, Switzerland, with Dr. Walter Gehring, she was a visiting scientist at Cambridge University in the UK, guest scientist at the Biozentrum in Szeged, Hungary and the University of Lund in Sweden, and lecturer at UBC, before coming to Queen’s University in 1978. From 1979-1986, she was the director of the Cytogenetics Service Lab at Kingston General Hospital and had academic appointments in the Departments of Biology and Pediatrics at Queen’s. Since 1986, she has been director of the Cytogenetics & DNA Research Lab (and the Autism Research Laboratory) at Ongwanada and professor of Psychiatry and Physiology at Queen’s. Dr. Holden’s main research is on the genetics of Autism Spectrum Disorders and various intellectual and behavioural disabilities, including Fragile X Syndrome and other forms of X-linked mental retardation (XLMR). Since 2001, she has been Program Director of the Autism Spectrum Disorders – Canadian-American Research Consortium (ASD-CARC), carrying out interdisciplinary research dedicated to “Unraveling the Mystery of Autism Spectrum Disorders” (www.AutismResearch.com). The Team has received major research grants from the Canadian Institutes of Health Research (CIHR), the Ontario Mental Health Foundation, and the Canada Foundation for Innovation, a CIHR Interdisciplinary Health Research Team grant and a CIHR Strategic Grant for Autism Research Training, co-funded by Autism Speaks/NAAR (www.AutismTraining.ca). She is working together with Autism Ontario, Autism Society Canada and other autism organizations to develop a Virtual Community of Autism Stakeholders (AutismConnects: www.AutismConnects.com). She served on the Board of Autism Ontario (formerly Autism Society Ontario) for many years until 2004, and continues as a member of its research committee. She is currently a Board Member of Autism Society Canada. Her brother, Jim – who is autistic – and her family are her inspiration for helping other individuals and families with ASD. She believes that by working together, the lives of all persons with disabilities will be enriched.



118.     Schutz CK, D Polley, PD Robinson, M Chalifoux, F Macciardi, BN White, JJA Holden (2002) Autism and the X-chromosome: No linkage to microsatellite loci detected using the affected sib-pair method.  Am J Med Genet 15: 36-41.

119.        Zhang H, X Liu, C Zhang, E Mundo, F Macciardi, JJA Holden (2002) The Reelin gene as a risk factor for autistic spectrum disorders. Mol Psychiatry 7: 1012-7

120.       Demark JL, MA Feldman, JJA Holden. Behavioural relationship between autism and fragile X syndrome. Am J Ment Retard. 108: 314-26. 

121.       Cohen, IL, X Liu, C Schutz, BN White, EC Jenkins, WT Brown, JJA Holden (2003). Association of Autism Severity with an MAOA Functional Polymorphism.  Clin Genet 64: 190-197.

122.        Kogan C, I Boutet, K Cornish, S Zangenehpour, KT Mullen, JJA Holden, VM Der Kaloustian, E Andermann, A Chaudhur (2004) Differential impact of the FMR1 gene on visual processing in fragile X syndrome Brain 127: 591-601. [Epub Jan 21 2004].

123.    Curlis Y, C Zhang, JJA Holden, K Kirby, D Loesch, RJ Mitchell (2005) A haplotype study of intermediate alleles at the fragile X (FMR1) gene: ATL1, FMRb and microsatellite haplotypes differ from those in common alleles.  Human Biology 77: 137-151   

124.        Mitchell RJ, C Zhang, JJA Holden, HR Slater, K Kirby, A Carmichael, KA Heading, Y Curlis, D Loesch (2005) FMR1 (fragile X) alleles in Tasmania: A screening study of the special educational needs (SEN) population.  Clin Genet 67: 38-46  

125.     Harvard C, P Malenfant P, M Koochek, S Lewis, JJA Holden, E Rajcan-Separovic (2005)  A variant Cri du Chat phenotype and autism spectrum disorder in a patient with de novo cryptic microdeletions involving 5p15.1 and 3p24.3-25 detected using the whole genomic array CGH. Clin Genet. 67:341-51. 

126.      Stepp ML, AL Cason, M Finnis, M Mangelsdorf, E Holinski-Feder, D Macgregor, A MacMillan, JJA Holden, J Gecz, RE Stevenson, CE Schwartz (2005) XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. BMC Med Genet. 6:16.

127.     D'Amelio M, I Ricci, R Sacco, X Liu, L D'Agruma, LA Muscarella, V Guarnieri, R Militerni, C Bravaccio, M Elia, C Schneider, R Melmed, S Trillo, T Pascucci, S Puglisi-Allegra, KL Reichelt, F Macciardi, JJA Holden, AM Persico (2005) Paraoxonase gene variants are associated with autism in North America, but not in Italy: possible regional specificity in gene-environment interactions. Mol Psychiatry 10: 1006-1016 [EPub July 19 2005]

128.       Ouellette-Kuntz H, N Garcin, ME Lewis, P Minnes, C Martin, JJA Holden (2005) Addressing health disparities through promoting equity for individuals with intellectual disability.  Can J Publ Health 96, Suppl 2: S8-22 (Review).

129.      Koochek M, C Harvard, MJ Hildebrand, M Van Allen, H Wingert, E Mickelson, JJA Holden, E Rajcan-Separovic, ME Lewis (2006) 15q Duplication associated with autism in a multiplex families with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH. Clin Genet 69: 124-134.

130.          Mercer L, S Creighton, JJA Holden, MES Lewis (2006) Parental perspectives on the causes of an autism spectrum disorder in their children. J Genet Couns. 15: 41-50.

131.          Ouellette-Kuntz H, H Coo, CT Yu, AE Chudley, A Noonan, M Breitenbach, N Ramji, T Prosick, A Bedard, JJA Holden (2006) Prevalence of Pervasive Developmental Disorders in Two Canadian Provinces. J Policy Practice Intellectual Disabil 3: 164-172.  

132.     Rajcan-Separovic E, C Harvard, B McGillivray, J Hall, Y Qiao, J Hurlburt, J Hildebrand, E Mickelson, JJA Holden, MES Lewis (2007) Clinical and molecular cytogenetic characterization of a newly recognized microdeletion syndrome involving 2p15-16.1. J Med Genet 44:269-276 [Epub Sept 8 2006]

133.         Ouellette-Kuntz H, H Coo, JE Lloyd, L Kasmara, JJA Holden, MES Lewis (2007) Trends in special education code assignment for autism: Implications for prevalence estimates. J Autism Dev Disord 37: 1941-1948 [Epub Jan 11, 2007]

134.    Hettinger J, X, Liu, JJA Holden (2008) The G22A polymorphism of the ADA gene and susceptibility to autism spectrum disorders. J |Autism Dev Disord 38: 14-19 [Epub Mar 6 2007]

135.   Qiao Y, X Liu, C Harvard, SL Nolin, WT Brown, M Koochek, JJA Holden, ME Lewis, E Rajcan-Separovic (2007) Large-scale copy number variants (CNVs): Distribution in normal subjects and FISH/real-time qPCR analysis. BMC Genomics 8: 167-  [Epub June 12, 2007)

136.          Fisch GS, N Carpenter, PN Howard-Peebles, JJA Holden, J Tarleton, R Simensen, W Nance (2007) Studies of age-correlated features of cognitive-behavioral development in children and adolescents with genetic disorders.  Am J Med Genet 143A: 2478-2489.

137.      Coo H, H Ouellette-Kuntz, JE Lloyd, L Kasmara, JJA Holden, ME Lewis (2008) Trends in Autism Prevalence: Diagnostic Substitution Revisited. J Autism Dev Disord. 38: 1036-1046 [Epub Nov 2, 2007]

138.     Hettinger JA, X Liu, CE Schwartz, RC Michaelis, JJA Holden (2008) A DRD1 haplotype is associated with risk for autism spectrum disorders in male-only affected sib-pair families. Am J Med Genet B (Neuropsychiatric Genetics) 147B: 628-636 [Epub Jan 18 2008]

139.          Hammond P, C Forster-Gibson, AE Chudley, JE Allanson, TJ Hutton, SA Farrell, J McKenzie,  JJA Holden, MES Lewis. Face-brain asymmetry in autism spectrum disorders. Molecular Psychiatry 13: 614-623 [[Epub Mar 4 2008]

140.       Shen JJ, PH Lee, JJA Holden, H Shatkay (2007) Using cluster ensemble and validation to identify subtypes of pervasive developmental disorders. J Am Med Inform Assoc, Oct.11: 666-670

141.          Qiao Y, X Liu, C Harvard, MJ Hildebrand, E Rajcan-Separovic, JJA Holden, MES Lewis (2008) Autism-associated familal microdeletion of Xp11.22.. Clinical Genetics 74: 134-144 [Epub May 21 2008] 

142.          Liu X, N Novosedlik, M Hudson, A Wang, IL Cohen, A Chudley, C Forster-Gibson, MES Lewis, JJA Holden (2008) The DLX1 and DLX2 genes and susceptibility to autism spectrum disorders. Eur J Hum Genet, in press

143.       Qiao Y, C Harvard, N Riendeau, C Fawcett, X Liu, JJA Holden, MES Lewis, E Rajcan-Separovic (2008) Putatively benign copy number variants in subjects with idiopathic autism spectrum disorders and/or intellectual disability. Cytogen Genome Res, in press



7. Forster-Gibson CJ, BA Lee, K Harrison, JJA Holden (2001) Neuropsychiatric Genetics. In “Catalysts for University Education in Developmental Disabilities”. Eds. Bruce D. McCreary, Patti Peppin, Barbara Stanton. Copyright: Developmental Consulting Program, Queen’s University.  ISBN: 0-88911-936-8. pp 39-57.

8. Lee BA, J MacKenzie, JJA Holden (2002) Fragile X syndrome. In “Developmental Disabilities in Ontario”, ed. I Brown, M Percy.  The Ontario Association on Developmental Disabilities.

9. Holden JJA, X Liu (2004) The Roles of Dopamine and Norepinephrine in Autism – from Behaviour and Pharmacotherapy to Genetics.  In “The Neurobiology of Autism”, eds. M Bauman and T Kemper, The Johns Hopkins University Press, pp 276-299.

10. Ouellette-Kuntz H, N Garcin, S Lewis, P Minnes, C Freeman, JJA Holden (2004 electronic; print 2005) Addressing Health Disparities through Promoting Equity for Individuals with Intellectual Disability. Can J Public Health. 96 Suppl 2:S8-22. Review. (M Beiser, editor) http://www.igh.ualberta.ca/RHD/synthesis.htm 

11. Holden JJA, X Liu (2004) The Genetics of Autism Spectrum Disorders.  In “Children, Youth and Adults with Asperger Syndrome”, K Stoddart, Editor, Jessica Kingsley Publishers, pp 268-281.   

12. Holden JJA, MMM Mazzocco (2006) Fragile X syndrome. In “Intellectual and Developmental Disabilities”, ed. I Brown, M Percy, Paul H. Brookes Publishing, in press.




Mar 7: Understanding the Autism Spectrum and Empowering Families. Autism Society of New South Wales, Sydney, Australia

Mar 9: Novel approaches to identifying genes for Autism Spectrum Disorders, Dept. Psychology, University of Tasmania, Hobart, Tasmania, Australia

Mar 13: Thinking Outside the Box and Empowering Families: New Insights into Autism through Research and Technology – 1 day Workshop presented with Cynthia Howroyd (www.AutismPro.com) in Hobart, Tasmania, Australia

Mar 17: Thinking Outside the Box and Empowering Families: New Insights into Autism through Research and Technology – 1 day Workshop presented with Cynthia Howroyd (www.AutismPro.com) in Launceston, Tasmania, Australia

Mar 21: Integrating Best Practices for Autism Therapy and Education – 1 day workshop presented with Cynthia Howroyd (www.AutismPro.com) in Hobart, Tasmania, Australia

Mar 26: Thinking Outside the Box and Empowering Families: New Insights into Autism through Research and Technology – 1 day Workshop presented with Cynthia Howroyd (www.AutismPro.com) in Melbourne, Victoria, Australia

Mar 27: Integrating Best Practices for Autism Therapy and Education – 1 day workshop presented with Cynthia Howroyd (www.AutismPro.com) in Melbourne, Victoria, Australia

Mar 30: Novel approaches to identifying genes for Autism Spectrum Disorders, Dept Psychology, Monash University, Melbourne, Australia

Apr 6: Understanding the Autism Spectrum and Empowering Families, Cairns, Australia

Nov 17-18: Microdeletion and microduplication syndromes in individuals with Autism Spectrum Disorders. Boston, MA, USA

Nov 17-18: Candidate Gene Studies in families with ASDs. Boston, MA, USA.


June: It’s Never Too Late – Jim’s story of talking and writing after 50 years. Autism Society Ontario Annual General Meeting, Keynote Speaker, Toronto, Ontario

Nov 2-5: Dopamine related genes and Autism Susceptibility; Autism Think Tank, Boston, MA.

Nov 2-5: Microdeletions and Microduplications in individuals with ASDs, Autism Think Tank, Boston, MA.


Nov 19-20: Genetics of ASD. The Autism Research Foundation Presentation - The Autism Research Foundation, Boston, USA

Oct 29-30: The Genetics of Autism Spectrum Disorders and Neurofibromatosis, Neurofibromatosis Society Annual Conference - Invited key note speaker, Neurofibromatosis Society of Canada, Toronto, Ontario

June 23-24: Development of a Model System for understanding complex genetic disorders:Kingston, Ontario Dept Psychiatry Research Symposium – Speaker, Dept. Psychiatry, Queen’s University,

June 8:  The Autism Spectrum Disorders Research Consortium Program - Invited speaker, University of Western Ontario, London, Ontario

May 19: Development of Literacy in an Adult with Autism: One World Annual Conference – Invited speaker, One World Foundation, Kingston, Ontario

Feb 21-22: CIHR Benefit Sharing Workshop – Invited participant, CIHR, Ottawa, Ontario


Nov 12: The Genetics of Autism – Geneva Centre for Autism Conference, Toronto, Ontario

Nov 6:   Genetics of ASD – The Autism Research Foundation Presentation, Boston

Oct 8: Unraveling the Mystery of Autism – Queen’s University Sesquicentennial Anniversary Presentation, Kingston, Ontario. 

June 19: Learning to Write – Update on Progress by an Adult with Autism.  Autism Society Ontario Annual General Meeting, London, Ontario.

May 5: The Genetics of Autism Spectrum Disorders. Conference for Caregivers, New York

Mar 25: Unraveling the Mystery of Autism. Public Lecture for Brain Week, Kingston Public Library, Kingston, Ontario 

March 18-19:  Building International, Interdisciplinary Research Teams for Autism Research.  At the From Research to Policy and Care – Exploring Opportunities for Autism Spectrum Disorders Research Networking in Canada’s Northwest.  BC Ministry of Health Services and Michael Smith Foundation.  Vancouver, BC.


Feb 19:  Developmental Disabilities Research Day, Kingston – presentation on Autism Spectrum Disorders, with students

Mar 19: Unraveling the Mystery of Autism Spectrum Disorders – an Interdisciplinary Approach, Dept. Biology Colloquium, Trent University, Peterborough

Apr 6:  Unraveling the Mystery of Autism Spectrum Disorders, Presentation to the Institute of Genetics, CIHR on our IHRT Research Program; invited participant at the Institute retreat

May 14: Autism Spectrum Disorders - Epidemiology, Early Identification and Genetics – Canadian-American Exchange in Developmental Disabilities, Gananoque

May 28: Unraveling the Mystery of Autism Spectrum Disorders – Guest speaker, Golf Tournament Fundraiser for Autism Society Ontario, Toronto Chapter, Toronto

May 30: Genetics of Autism Spectrum Disorders, Invited Speaker, Celebrating our Achievements – Setting our Sights Conference, Asperger Society Ontario, May 30-June 1, 2003, Toronto, Ontario  

June 2: Unraveling the Mystery of Autism Spectrum Disorders – Keynote Speaker, Autism Society Ontario, Renfrew Chapter, Renfrew

June 14: Unraveling the Mystery of Autism Spectrum Disorders – an Interdisciplinary Approach, Keynote speaker, Genes & Development Research Group (GDRG), University of Calgary Calgary, Alberta

June 21: Unraveling the Mystery of Autism Spectrum Disorders, Keynote speaker, Autism Society Ontario, Cambridge, Ontario 

July 5: Genetics of Fragile X and Autism Spectrum Disorders, 5th Canadian Fragile X and ASD Conference, Kingston, Ontario  

Sept 21-22: The HEIDI Program – Invited Participant and Speaker, International Think Tank on Reducing Health Disparities for Vulnerable Populations, sponsored by CIHR, Ottawa, Ontario

Sept. 26: Unraveling the Mystery of Autism Spectrum Disorders, Grand Rounds, Dept Psychiatry, Queen’s University

Oct 18: Unraveling the Mystery of Autism Spectrum Disorders, Keynote Speaker, Autism Society Ontario, Durham Chapter, Whitby, Ontario

Oct 24: Unraveling the Mystery of Autism Spectrum Disorders, Keynote speaker, Autism Spectrum Disorders in Adults Conference, sponsored by Regional Support Associates, London, Ontario 

Nov 21: Invited Participant to the CIHR Workshop: Legal and Ethical Issues Facing the Canadian Lifelong Health Initiative, Montreal, Quebec

Nov 22-24:  Invited Consortium Member, Autism Think Tank, Boston, Massachusetts


May 15: Great Lakes Chromosome Conference, Co-Chair: “Autism: What’s Genetics got to do with it?” Toronto, Ontario 

June 13: Demystifying Syndromes – Implications for Treatment Conference: “Identifying Underlying Genetic Causes of Syndromes”, North Bay, June 13-14. 

July  18: 8th International Fragile X Conference: “Fragile X: in the Genetics Clinic” Workshop co-chair, Chicago, Illinois, July 17-21

Oct 3: Canadian Autism Research Workshop: “The Genetics of Autism Spectrum Disorders”, Toronto, Ontario, October 2-4

Oct. 24: Geneva Centre for Autism Symposium: “Autism Spectrum Disorders – What’s Genetics Got to Do With It?”, Toronto, Ontario, October 23-25

Nov 16: First World Congress on Autism: “The Genetics of Autism Spectrum Disorders”, Melbourne, Australia, November 13-16