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Judith Allanson, MD photo of Judith Allanson
Clinical Geneticist, Department of Genetics, CHEO
Professor, Department of Pediatrics, Faculty of Medicine,
University of Ottawa
Research Practice Areas:
Current Research:
Dr. Allanson’s research is focused on learning more about how we recognize differences in facial morphology, including the application of 2D and 3D photogrammetry. Her research also investigates how primary care providers use family history to interpret risk for genetic disorder, and how they integrate genomic medicine into their practice. Dr. Allanson’s research goals are to engage and educate healthcare providers and the public in order to optimize the use of genomic medicine.
Dr. Allanson’s career-long research interests have focused on the evaluation of facial features and syndrome identification. She has a long-standing interest in the natural history and genotype-phenotype correlations of Noonan syndrome, a common condition caused by mutations in genes in the Ras-MAPK pathway. She is a member of research teams that focus on health services and health policy: how we evaluate genetic services; the understanding, perception and application of genetic knowledge by primary care providers; and the translation of gene discoveries into health benefits. Dr. Allanson is passionate about genetics literacy. She is co-editor of a book on management of common genetic syndromes and currently co-directs a new CHEO-funded resource: Genetics Education Canada Knowledge Organization). (GEC-KO - see
Sample Publications:

Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet 2013 Jan 9. doi:pii: S0140-6736(12)61023-X. 10.1016/S0140-6736(12)61023-X. [Epub ahead of print]

Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium, Majewski J, Bulman DE, White SM, Boycott KM. Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome. Am J Hum Genet 90: 308-313, 2012.

Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB. Beyond Gomez-Lopez-Hernandez syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet 158A: 2393-2406, 2012.

Hammond P, Suttie M, Hennekam RC, Allanson J, Shore EM, Kaplan FS. The complex craniofacial signature of fibrodysplasia ossificans progressive: Whose handwriting is it? Am J Med Genet 158A: 2979-80, 2012.

Hall JH, Allanson JE, Gripp KW, Slavotinek AM. Special section. Syndrome-specific growth charts. Am J Med Genet 158A: 2645-6, 2012.

Bombard Y, Miller FA, Hayeems RZ, Carroll JC, Avard D, Wilson BJ, Little J, Bytautas JP, Allanson J, Axler R, Giguere Y, Chakraborty P. Citizens' Values Regarding Research With Stored Samples From Newborn Screening in Canada. Pediatrics 129: 239-247, 2012.

Nowaczyk MJ, Tan M, Hamid JS, Allanson JE. Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. Am J Med Genet A 158: 1020-8, 2012.

Carey J, Allanson J, Biesecker L, Hennekam RCM. Standard terminology for phenotypic variations: The elements of morphology project, its current progress and future directions. Hum Mutat 2012 April 13 DOI: 10.1002/humu.22053. [Epub ahead of print].

Wilson BJ, Carroll JC, Allanson J, Little J, Etchegary H, Avard D, Potter B, Castle D, Grimshaw JM, Chakraborty P. Family history tools in primary care: does one size fit all? Public Health Genomics 15:181–188, 2012.

Bombard Y, Miller FA, Hayeems RZ, Wilson BJ, Carroll JC, Paynter M, Little J, Allanson J, Bytautas JP, Chakraborty P. Healthcare providers’ views on pursuing reproductive benefit through newborn screening: The case of sickle cell disorders. Eur J Hum Genet 20(5):498-504.

Allanson JE, Smith A, Hare H, Albrecht B, Bijlsma E, Dallapiccola B, Donti E, Fitzpatrick D, Isidor B, Lachlan K, Le Caignec C, Prontera P, Raas-Rothschild A, Rogaia D, van Bon B, Aradhya S, Crocker S, Jarinova O, McGowan-Jordan J, Boycott K, Bulman D, Fagerberg CR. Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. Am J Med Genet 158A: 2091-9, 2012.

Allanson JE, Hennekam RCM, Moog U, Smeets EE. Rett syndrome: A study of the face. Am J Med Genet 155A: 1563-7, 2011.

Allanson JE, Anneren G, Aoki Y, Armour CM, Bondeson M-L, Cave H, Gripp KW, Kerr B, Nystrom A-M, Sol-Church K, Verloes A, Zenker M. Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?. Am J Med Genet Part C 157: 129-135, 2011.

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