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List of works by Judith Allanson

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

scientific article

A hierarchy of event-related potential markers of auditory processing in disorders of consciousness.

scientific article

Assessing residual reasoning ability in overtly non-communicative patients using fMRI.

scientific article published on 30 November 2012

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

scientific article

Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

scientific article

Citizens' values regarding research with stored samples from newborn screening in Canada

scientific article published on 16 January 2012

Clinical utility of cancer family history collection in primary care

scientific article published on April 2009

Collection and use of cancer family history in primary care.

scientific article published on October 2007

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

scientific article

Development and validation of a brief screening instrument for psychosocial risk associated with genetic testing: a pan-Canadian cohort study ⬇️

scientific article published on March 13, 2013

Discriminating power of localized three-dimensional facial morphology

scientific article

Dissociable endogenous and exogenous attention in disorders of consciousness

scientific article published on 16 October 2013

Expectations and values about expanded newborn screening: a public engagement study

scientific article published on February 2013

Family history and improving health

scientific article published on August 2009

GenetiKit: a randomized controlled trial to enhance delivery of genetics services by family physicians

scientific article

Genetic education for primary care providers: improving attitudes, knowledge, and confidence

scientific article published on December 2009

Genetics: Alzheimer disease

scientific article published on June 2009

Genetics: Codeine metabolism.

scientific article published on February 2009

Genetics: Hypertrophic cardiomyopathy

scientific article published on November 2009

Genetics: Newborn screening for sickle cell anemia

scientific article published on October 2009

Genetics: Preimplantation genetic diagnosis

scientific article

Genetics: factor V Leiden.

scientific article published on April 2010

Genetics: familial melanoma.

scientific article published on January 2010

Genetics: hereditary hemochromatosis

scientific article published on January 2009

Genetics: newborn screening for MCAD deficiency.

scientific article published on May 2009

Genetics: prostate cancer

scientific article published on July 2009

Genetics: schizophrenia

scientific article published on December 2009

Genetics: type 2 diabetes

scientific article published on September 2009

Health-care providers' views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders.

scientific article published on 9 November 2011

Hereditary breast and ovarian cancers

scientific article published on December 2008

Informing Integration of Genomic Medicine Into Primary Care: An Assessment of Current Practice, Attitudes, and Desired Resources

scientific article published on 21 November 2019

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review

scientific article

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

scientific article

Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes ⬇️

scientific article published on January 1, 2013

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

scientific article

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

scientific article

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

scientific article

Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines ⬇️

scientific article published on September 27, 2010

Noonan syndrome

scientific article

Opposite effects on facial morphology due to gene dosage sensitivity

scientific article

Pitfalls of genetic diagnosis in the adolescent: the changing face

scientific article

Primary care role in expanded newborn screening: After the heel prick test

scientific article published on August 2013

Public views on participating in newborn screening using genome sequencing

scientific article

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

scientific article

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

scientific article

Spectral signatures of reorganised brain networks in disorders of consciousness

scientific article

Standard terminology for phenotypic variations: The Elements of Morphology project, its current progress, and future directions ⬇️

scientific article published on April 13, 2012

Supporting genetics in primary care: investigating how theory can inform professional education

scientific article published on 22 June 2016

Systematic review: family history in risk assessment for common diseases

scientific article published on December 2009

The Gene Messenger Impact Project: An Innovative Genetics Continuing Education Strategy for Primary Care Providers

scientific article published on January 2016

The current state of cancer family history collection tools in primary care: a systematic review

scientific article published on July 2009

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

scientific article

Traumatic brain injury in adults

scientific article published on March 13, 2013

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

scientific article published on 11 March 2015

Understanding sickle cell carrier status identified through newborn screening: a qualitative study.

scientific article

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

scientific article published on 31 January 2012

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