Alison Elliott
Associate Professor
Research Classification
Research Interests
rare disease
genomics
Congenital Malformations
Skeletal and limb anomalies
Genetic Counselling
Health services implementation science
Relevant Degree Programs
Affiliations to Research Centres, Institutes & Clusters
Research Options
I am available and interested in collaborations (e.g. clusters, grants).
I am interested in and conduct interdisciplinary research.
I am interested in working with undergraduate students on research projects.
Research Methodology
qualitative and quantitative methods, health services implementation science, genetic counselling
Recruitment
Master's students
Doctoral students
Postdoctoral Fellows
2022
Genetic counselling
Birth defects
Health Implementation Science
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Publications
- Correction: The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review. (2020)
Genetics in medicine : official journal of the American College of Medical Genetics, - De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. (2020)
European journal of human genetics : EJHG, - Genetic counseling and genome sequencing in pediatric rare disease (2020)
Cold Spring Harbor Perspectives in Medicine, 10 (3) - Shortened consent forms for genome-wide sequencing: Parent and provider perspectives (2020)
Molecular Genetics and Genomic Medicine, 8 (7) - The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review. (2020)
Genetics in medicine : official journal of the American College of Medical Genetics, - Canadian genetic healthcare professionals’ attitudes towards discussing private pay options with patients (2019)
Molecular Genetics and Genomic Medicine, 7 (4) - Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit (2019)
Journal of Genetic Counseling, 28 (2), 263-272 - New developmental syndromes: Understanding the family experience (2019)
Journal of Genetic Counseling, 28 (2), 202-212 - RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges. (2019)
European journal of pediatrics, - Renpenning syndrome in a female. (2019)
American journal of medical genetics. Part A, - Support, information, and integration of genetics for children with congenital lower limb deficiencies in British Columbia, Canada (2019)
Paediatrics and Child Health (Canada), 24 (6), 395-401 - The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders. (2019)
Genetics in medicine : official journal of the American College of Medical Genetics, - Atypical cerebral palsy: genomics analysis enables precision medicine. (2018)
Genetics in medicine : official journal of the American College of Medical Genetics, - Evaluating the use of parental reports to estimate health care resource utilization in children with suspected genetic disorders (2018)
Journal of Evaluation in Clinical Practice, 24 (2), 416-422 - The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study (2018)
Genetics in Medicine, 20 (9), 1013-1021 - The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (2018)
Molecular Genetics and Genomic Medicine, 6 (4), 592-600 - The importance of genetic counselling in genome-wide sequencing (2018)
Nature Reviews Genetics, 19 (12), 735-736 - Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly (2017)
Clinical Genetics, 91 (3), 499-500 - Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. (2017)
American journal of human genetics, - Case Report: Direct Access Genetic Testing and A False-Positive Result For Long QT Syndrome (2016)
Journal of Genetic Counseling, 25 (1), 25-31 - CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL (2016)
Nature Communications, 7 - Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges (2016)
American Journal of Medical Genetics, Part A, 170 (10), 2652-2661 - Recommendations for the integration of genomics into clinical practice (2016)
Genetics in Medicine, - Derogatory nomenclature is still being used: The example of split hand/foot (2015)
American Journal of Medical Genetics, Part A, 167 (4), 928-929 - Vascular patterning regulates interdigital cell death by a ros-mediated mechanism (2015)
Development (Cambridge), 142 (4), 672-680 - Evaluation of a Clinical Genetics Service – A Quality Initiative (2014)
Journal of Genetic Counseling, 23 (5), 881-889 - A novel mutation in KIAA0196: Identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort (2013)
Journal of Medical Genetics, 50 (12), 819-822 - Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome (2013)
SpringerPlus, 2 (1), 1-6 - Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay (2012)
American Journal of Medical Genetics, Part A, 158 A (2), 391-399 - Trends in telehealth versus on-site clinical genetics appointments in Manitoba: A comparative study (2012)
Journal of Genetic Counseling, 21 (2), 337-344 - Potential teratogenic effects of allopurinol: A case report (2011)
American Journal of Medical Genetics, Part A, 155 (9), 2247-2252 - A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature. (2010)
Genetics and molecular research : GMR, 9 (3), 1785-1790 - The developmental spectrum of proximal radioulnar synostosis (2010)
Skeletal Radiology, 39 (1), 49-54 - Central ray deficiency with extensive syndactyly: A dilemma for classification (2009)
Genetic Counseling, 20 (1), 27-43 - The carpal bones in Poland syndrome (2009)
Skeletal Radiology, 38 (6), 585-591 - The association of split hand foot malformation (SHFM) and congenital heart defects (2008)
Birth Defects Research Part A - Clinical and Molecular Teratology, 82 (6), 425-434 - Triphalangeal thumb in association with split hand/foot: A phenotypic marker for SHFM3? (2007)
Birth Defects Research Part A - Clinical and Molecular Teratology, 79 (1), 58-61 - Clinical and epidemiological findings in patients with central ray deficiency: Split hand foot malformation (SHFM) in Manitoba, Canada (2006)
American Journal of Medical Genetics, Part A, 140 (13), 1428-1439 - Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients (2006)
American Journal of Medical Genetics, Part A, 140 (13), 1419-1427 - Letter re: Fibula aplasia, tibial campomelia, and oligodactyly [5] (2006)
American Journal of Medical Genetics, 140 A (10), 1127 - Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology (2006)
American Journal of Medical Genetics, Part A, 140 (14), 1553-1563 - Discrepancies in upper and lower limb patterning in split hand foot malformation (2005)
Clinical Genetics, 68 (5), 408-423 - Hand involvement in schmid metaphyseal chondrodysplasia (2005)
American Journal of Medical Genetics, 132 A (2), 191-193 - Split hand foot malformation (SHFM) (2005)
Clinical Genetics, 68 (6), 501-505 - Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome (2004)
Clinical Dysmorphology, 13 (3), 143-150 - The duplicated longitudinal epiphysis or "kissing delta phalanx": Evolution and variation in three different disorders (2004)
Skeletal Radiology, 33 (6), 345-351 - A distinctive type of metaphyseal chondrodysplasia with characteristic thickening of the distal ulna and radius: Possible metaphyseal chondrodysplasia-Rosenberg (2003)
American Journal of Medical Genetics, 119 A (1), 50-56 - Cerebro-osseous-digital syndrome: Four new cases of a lethal skeletal dysplasia - Distinct from Neu-Laxova syndrome (2002)
American Journal of Medical Genetics, 109 (2), 139-148 - Spectrum of dolichospondylic dysplasia: Two new patients with distinctive findings (2002)
American Journal of Medical Genetics, 113 (4), 351-361 - Member of the ampakine class of memory enhancers prolongs the single channel open time of reconstituted AMPA receptors (2001)
Synapse, 40 (2), 154-158 - Progressive erosive arthropathy with contractures, multicentric osteolysis-like changes, characteristic craniofacial appearance, and dermatological abnormalities: A new syndrome? (2001)
American Journal of Medical Genetics, 100 (3), 198-203 - New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome (2000)
Clinical Dysmorphology, 9 (1), 15-19 - 3.0.co;2-e" target="_blank">Scapuloiliac dysostosis (Kosenow syndrome, Pelvis-Shoulder Dysplasia) spectrum: Three additional cases (2000)
American Journal of Medical Genetics, 95 (5), 496-506 - 3.0.co;2-3" target="_blank">Dyskeratosis congenita: An autosomal recessive variant (1999)
American Journal of Medical Genetics, 83 (3), 178-182 - 3.0.co;2-l" target="_blank">Deletion of 22q11 in two brothers with different phenotype (1998)
American Journal of Medical Genetics, 75 (3), 288-291 - Fine localization of the Nijmegen breakage syndrome gene to 8q21: Evidence for a common founder haplotype (1998)
American Journal of Human Genetics, 63 (1), 125-134 - 3.0.co;2-l" target="_blank">Further examples of autosomal dominant transmission of nonsyndromic aplasia cutis congenita. (1997)
American journal of medical genetics, 73 (4), 495-496 - Another case of the human homologue of the mouse mutant disorganization. (1996)
American journal of medical genetics, 61 (1), 94 - 3.0.co;2-x" target="_blank">New syndrome?: MCA/MR syndrome with multiple circumferential skin creases (1996)
American Journal of Medical Genetics, 62 (1), 23-25 - 3.0.co;2-0" target="_blank">Possible new variant of Nijmegen breakage syndrome (1996)
American Journal of Medical Genetics, 65 (1), 21-26 - Schinzel-Giedion syndrome: Further delineation of the phenotype (1996)
Clinical Dysmorphology, 5 (2), 135-142 - 3.0.co;2-g" target="_blank">Skeletal and cardiac malformations with thrombocytopenia: A new syndrome? (1996)
American Journal of Medical Genetics, 64 (3), 497-500 - Developmental anomalies suggestive of the human homologue of the mouse mutant disorganization (1995)
American Journal of Medical Genetics, 55 (2), 240-243 - Severe intrauterine growth retardation with increased mitomycin C sensitivity, or Nijmegen breakage syndrome? (1995)
Journal of Medical Genetics, 32 (12), 998
Membership Status
Member of G+PS
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Location
BC Children's Hospital
Program Affiliations
Department(s)
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