Overview

I am a PhD geneticist and board certified genetic counsellor. My research interests include: rare disease, genomics, congenital malformations (in particular, skeletal and limb anomalies), genetic counselling and health services implementation science. I am committed to advancing the academic field of genetic counselling.

Publications

Genetic counselling resources in non-english languages: A scoping review
PEC Innovation
Rhea Beauchesne and Patricia Birch and Alison M. Elliott
DOI: 10.1016/j.pecinn.2023.100135
12/2023

Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study
Journal of Telemedicine and Telecare
Alison M Elliott and Nick Dragojlovic and Teresa Campbell and Shelin Adam and Christèle du Souich and Michele Fryer and Anna Lehman and Clara van Karnebeek and Larry D Lynd and Jan M Friedman
DOI: 10.1177/1357633X20982737
05/2023

Considerations for the use of qualitative methodologies in genetic counseling research
Journal of Genetic Counseling
Tasha Wainstein and Alison M. Elliott and Jehannine C. Austin
DOI: 10.1002/jgc4.1644
04/2023

Evaluation of out-of-pocket pay genetic testing in a publicly funded healthcare system
Clinical Genetics
Peter Grant and Courtney B. Cook and Sylvie Langlois and Jennifer Nuk and SzeWing Mung and Qian Zhang and Larry D. Lynd and Jehannine Austin and Alison M. Elliott
DOI: 10.1111/cge.14276
04/2023

The experiences of adolescent siblings of children with rare genetic conditions: “It's made me who I am”
Journal of Genetic Counseling
Heaton, J. and Wainstein, T. and Elliott, A.M. and Austin, J.
DOI: 10.1002/jgc4.1636
2023

Implementing genomics in the neonatal period: An assessment of parental decision making and anxiety
Journal of Genetic Counseling
Tasha Wainstein and Teresa Campbell and Biljana J. Stojkova and Pascal M. Lavoie and Alison M. Elliott
DOI: 10.1002/jgc4.1605
12/2022

Where is genetic medicine headed? Exploring the perspectives of Canadian genetic professionals on future trends using the Delphi method
European Journal of Human Genetics
Kennedy Borle and Nicola Kopac and Nick Dragojlovic and Elisabet Rodriguez Llorian and Jan M. Friedman and Alison M. Elliott and Larry D. Lynd
DOI: 10.1038/s41431-021-01017-2
05/2022

After genomic testing results: Parents’ long-term views
Journal of Genetic Counseling
Liang, N.S.Y. and Adam, S. and Elliott, A.M. and Siemens, A. and du Souich, C. and Friedman, J.M. and Birch, P.
DOI: 10.1002/jgc4.1454
2022

The long-term impact of receiving incidental findings on parents undergoing genome-wide sequencing
Journal of Genetic Counseling
Cheung, F. and Birch, P. and Friedman, J.M. and Elliott, A.M. and Adam, S.
DOI: 10.1002/jgc4.1558
2022

Correction to: The stepwise process of integrating a genetic counsellor into primary care (European Journal of Human Genetics, (2022), 30, 7, (772-781), 10.1038/s41431-022-01040-x)
European Journal of Human Genetics
Slomp, C. and Morris, E. and Knoppers, B.M. and Lynd, L.D. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.H. and Price, M. and Elliott, A.M. and Austin, J.
DOI: 10.1038/s41431-022-01063-4
2022

The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit
Genetics in Medicine
Rodriguez Llorian, E. and Dragojlovic, N. and Campbell, T.M. and Friedman, J.M. and Osiovich, H. and Candido, T. and Christilaw, J. and Souich, C.D. and Elliott, A.M. and Evans, D.M. and Farrer, M.J. and Guella, I. and Lehman, A. and Lynd, L.D. and Tooman, L.
DOI: 10.1016/j.gim.2022.04.014
2022

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
Human Genetics and Genomics Advances
Elliott, A.M. and Adam, S. and du Souich, C. and Lehman, A. and Nelson, T.N. and van Karnebeek, C. and Alderman, E. and Armstrong, L. and Aubertin, G. and Blood, K. and Boelman, C. and Boerkoel, C. and Bretherick, K. and Brown, L. and Chijiwa, C. and Clarke, L. and Couse, M. and Creighton, S. and Watts-Dickens, A. and Gibson, W.T. and Gill, H. and Tarailo-Graovac, M. and Hamilton, S. and Heran, H. and Horvath, G. and Huang, L. and Hulait, G.K. and Koehn, D. and Lee, H.K. and Lewis, S. and Lopez, E. and Louie, K. and Niederhoffer, K. and Matthews, A. and Meagher, K. and Peng, J.J. and Patel, M.S. and Race, S. and Richmond, P. and Rupps, R. and Salvarinova, R. and Seath, K. and Selby, K. and Steinraths, M. and Stockler, S. and Tang, K. and Tyson, C. and van Allen, M. and Wasserman, W. and Mwenifumbo, J. and Friedman, J.M.
DOI: 10.1016/j.xhgg.2022.100108
2022

The stepwise process of integrating a genetic counsellor into primary care
European Journal of Human Genetics
Slomp, C. and Morris, E. and Knoppers, B.M. and Lynd, L.D. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.H. and Price, M. and Elliott, A.M. and Austin, J.
DOI: 10.1038/s41431-022-01040-x
2022

Experiences with Genetic Counseling, Testing, and Diagnosis among Adolescents with a Genetic Condition: A Scoping Review
JAMA Pediatrics
Wainstein, T. and Marshall, S.K. and Ross, C.J.D. and Virani, A.K. and Austin, J.C. and Elliott, A.M.
DOI: 10.1001/jamapediatrics.2021.4290
2022

Genetic counseling considerations in cerebral palsy
Molecular Genetics and Metabolism
Elliott, A.M. and Guimond, C.
DOI: 10.1016/j.ymgme.2021.07.004
2022

Out-of-pocket and private pay in clinical genetic testing: A scoping review
Clinical Genetics
Peter Grant and Sylvie Langlois and Larry D. Lynd and Jehannine C. Austin and Alison M. Elliott
DOI: 10.1111/cge.14006
11/2021

Genetic counseling research and COVID-19: A lesson in resiliency
Journal of Genetic Counseling
Kennedy Borle and Alivia Dey and Prescilla Carrion and Jehannine Austin and Alison M. Elliott
DOI: 10.1002/jgc4.1502
10/2021

Far and wide: Exploring provider utilization of remote service provision for genome-wide sequencing in Canada
Molecular Genetics & Genomic Medicine
Emily A. Enns and Tasha Wainstein and Nick Dragojlovic and Nicola Kopac and Larry D. Lynd and Alison M. Elliott
DOI: 10.1002/mgg3.1784
10/2021

Classifications of split hand foot malformation (SHFM) should include transverse deficiencies: Why Maisels was correct
American Journal of Medical Genetics Part A
Alison M. Elliott and William J. Scott, Jr and Albert E. Chudley and Martin H. Reed and Jane A. Evans
DOI: 10.1002/ajmg.a.62242
09/2021

Rapid genome-wide sequencing in a neonatal intensive care unit: A retrospective qualitative exploration of parental experiences
Journal of Genetic Counseling
Caitlin E. Aldridge and Horacio Osiovich and Harold (Hal) Siden and Alison M. Elliott
DOI: 10.1002/jgc4.1353
04/2021

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy
European Journal of Human Genetics
McTiernan, N. and Gill, H. and Prada, C.E. and Pachajoa, H. and Lores, J. and Arnesen, T. and Adam, S. and Du Souich, C. and Elliott, A. and Lehman, A. and Mwenifumbo, J. and Nelson, T. and Van Karnebeek, C. and Friedman, J.
DOI: 10.1038/s41431-020-00728-2
2021

GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases
Human Mutation
Richmond, P.A. and Av-Shalom, T.V. and Fornes, O. and Modi, B. and Elliott, A.M. and Wasserman, W.W.
DOI: 10.1002/humu.24163
2021

Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications
Cold Spring Harbor Molecular Case Studies
Cook, C.B. and Armstrong, L. and Boerkoel, C.F. and Clarke, L.A. and du Souich, C. and Demos, M.K. and Gibson, W.T. and Gill, H. and Lopez, E. and Patel, M.S. and Selby, K. and Abu-Sharar, Z. and Elliott, A.M. and Friedman, J.M.
DOI: 10.1101/mcs.a006125
2021

Toward the diagnosis of rare childhood genetic diseases: what do parents value most?
European Journal of Human Genetics
Pollard, S. and Weymann, D. and Dunne, J. and Mayanloo, F. and Buckell, J. and Buchanan, J. and Wordsworth, S. and Friedman, J.M. and Stockler-Ipsiroglu, S. and Dragojlovic, N. and Elliott, A.M. and Harrison, M. and Lynd, L.D. and Regier, D.A.
DOI: 10.1038/s41431-021-00882-1
2021

Correction to: Toward the diagnosis of rare childhood genetic diseases: what do parents value most? (European Journal of Human Genetics, (2021), 29, 10, (1491-1501), 10.1038/s41431-021-00882-1)
European Journal of Human Genetics
Pollard, S. and Weymann, D. and Dunne, J. and Mayanloo, F. and Buckell, J. and Buchanan, J. and Wordsworth, S. and Friedman, J.M. and Stockler-Ipsiroglu, S. and Dragojlovic, N. and Elliott, A.M. and Harrison, M. and Lynd, L.D. and Regier, D.A.
DOI: 10.1038/s41431-021-00925-7
2021

Integration of genetic counsellors in genomic testing triage: Outcomes of a Genomic Consultation Service in British Columbia, Canada
European Journal of Medical Genetics
Cook, C.B. and Dragojlovic, N. and Siemens, A. and Adam, S. and du Souich, C. and van Karnebeek, C. and Lehman, A. and Nelson, T.N. and Friedman, J. and Lynd, L.D. and Elliott, A.M.
DOI: 10.1016/j.ejmg.2020.104024
2021

Targeted treatment of immune thrombocytopenia in CTLA-4 insufficiency: a case report
British Journal of Haematology
Lai, C.M.B. and Setiadi, A. and Barlas, A. and Kanani, A. and Pourshahnazari, P. and Leitch, H.A. and Metzger, D.L. and Merkeley, H. and Biggs, C.M. and Adam, S. and Du Souich, C. and Elliott, A. and Lehman, A. and Mwenifumbo, J. and Nelson, T. and Van Karnebeek, C. and Friedman, J.
DOI: 10.1111/bjh.17866
2021

Genetic counselors and legal recognition: A made-for-Canada approach
Journal of Genetic Counseling
Lambert, D.M. and Patrinos, D. and Knoppers, B.M. and Zawati, M.H. and Elliott, A.M. and Austin, J. and Lynd, L.D. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Pullman, D. and Virani, A. and Wasserman, W.
DOI: 10.1002/jgc4.1468
2021

Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions (Genome Medicine, (2021), 13, 1, (126), 10.1186/s13073-021-00932-9)
Genome Medicine
Rajan-Babu, I.-S. and Peng, J.J. and Chiu, R. and Birch, P. and Couse, M. and Guimond, C. and Lehman, A. and Mwenifumbo, J. and van Karnebeek, C. and Friedman, J. and Adam, S. and Du Souich, C. and Elliott, A. and Lehman, A. and Mwenifumbo, J. and Nelson, T. and van Karnebeek, C. and Rajan-Babu and Friedman, J. and Li, C. and Mohajeri, A. and Dolzhenko, E. and Eberle, M.A. and Birol, I. and Friedman, J.M.
DOI: 10.1186/s13073-021-00961-4
2021

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder
Human Mutation
Szot, J.O. and Slavotinek, A. and Chong, K. and Brandau, O. and Nezarati, M. and Cueto-González, A.M. and Patel, M.S. and Devine, W.P. and Rego, S. and Acyinena, A.P. and Shannon, P. and Myles-Reid, D. and Blaser, S. and Mieghem, T.V. and Yavuz-Kienle, H. and Skladny, H. and Miller, K. and Riera, M.D.T. and Martínez, S.A. and Tizzano, E.F. and Dupuis, L. and James Stavropoulos, D. and McNiven, V. and Mendoza-Londono, R. and Elliott, A.M. and Phillips, R.S. and Chapman, G. and Dunwoodie, S.L.
DOI: 10.1002/humu.24211
2021

Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions
Genome Medicine
Rajan-Babu, I.-S. and Peng, J.J. and Chiu, R. and Adam, S. and Souich, C.D. and Elliott, A. and Lehman, A. and Mwenifumbo, J. and Nelson, T. and van Karnebeek, C. and Friedman, J. and Birch, P. and Couse, M. and Guimond, C. and Mwenifumbo, J. and van Karnebeek, C. and Friedman, J. and Li, C. and Mohajeri, A. and Dolzhenko, E. and Eberle, M.A. and Birol, I. and Friedman, J.M.
DOI: 10.1186/s13073-021-00932-9
2021

Utilization and uptake of clinical genetics services in high-income countries: A scoping review
Health Policy
Dragojlovic, N. and Kopac, N. and Borle, K. and Tandun, R. and Salmasi, S. and Ellis, U. and Birch, P. and Adam, S. and Friedman, J.M. and Elliott, A.M. and Lynd, L.D.
DOI: 10.1016/j.healthpol.2021.04.010
2021

Shortened consent forms for genome-wide sequencing: Parent and provider perspectives
Molecular Genetics & Genomic Medicine
Emma C. Hitchcock and CAUSES Study and Alison M. Elliott
DOI: 10.1002/mgg3.1254
07/2020

Correction: The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review.
Genetics in medicine : official journal of the American College of Medical Genetics
Dragojlovic N and Borle K and Kopac N and Ellis U and Birch P and Adam S and Friedman JM and Nisselle A and GenCOUNSEL Study and Elliott AM and Lynd LD
DOI: 10.1038/s41436-020-0903-5
PubMed: 32651549
07/2020

The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review.
Genetics in medicine : official journal of the American College of Medical Genetics
Dragojlovic N and Borle K and Kopac N and Ellis U and Birch P and Adam S and Friedman JM and Nisselle A and GenCOUNSEL Study and Elliott AM and Lynd LD
DOI: 10.1038/s41436-020-0825-2
PubMed: 32576987
06/2020

Renpenning syndrome in a female
American Journal of Medical Genetics Part A
Raymond Y. Cho and Maria S. Peñaherrera and Christele Du Souich and Lijia Huang and Jill Mwenifumbo and Tanya N. Nelson and Alison M. Elliott and Shelin Adam and Patrice Eydoux and Gui X. Yang and Chieko Chijiwa and Margot I. Van Allen and Jan M. Friedman and Wendy P. Robinson and Anna Lehman
DOI: 10.1002/ajmg.a.61451
03/2020

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
European journal of human genetics : EJHG
Nambot S and Faivre L and Mirzaa G and Thevenon J and Bruel AL and Mosca-Boidron AL and Masurel-Paulet A and Goldenberg A and Le Meur N and Charollais A and Mignot C and Petit F and Thauvin-Robinet C
DOI: 10.1038/s41431-020-0571-6
PubMed: 32005960
01/2020

Genetic counseling and genome sequencing in pediatric rare disease
Cold Spring Harbor Perspectives in Medicine
Elliott, A.M.
DOI: 10.1101/cshperspect.a036632
2020

The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders
Genetics in Medicine
Dragojlovic, N. and van Karnebeek, C.D.M. and Ghani, A. and Genereaux, D. and Kim, E. and Birch, P. and Adam, S. and du Souich, C. and Elliott, A.M. and Lehman, A. and Lynd, L. and Mwenifumbo, J. and Nelson, T.N. and van Karnebeek, C. and Friedman, J.M. and Lynd, L.D. and Lynd, L.D.
DOI: 10.1038/s41436-019-0635-6
2020

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges
European Journal of Pediatrics
Alison M. Elliott and Christèle du Souich and Anna Lehman and Ilaria Guella and Daniel M. Evans and Tara Candido and Leah Tooman and Linlea Armstrong and Lorne Clarke and William Gibson and Harinder Gill and Pascal M. Lavoie and Suzanne Lewis and Margaret L. McKinnon and Sarah M. Nikkel and Millan Patel and Alfonso Solimano and Anne Synnes and Joseph Ting and Margot van Allen and Jan Christilaw and Matthew J. Farrer and Jan M. Friedman and Horacio Osiovich
DOI: 10.1007/s00431-019-03399-4
08/2019

Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit
Journal of Genetic Counseling
Emma E. Smith and Christèle du Souich and Nick Dragojlovic and Alison M. Elliott
DOI: 10.1002/jgc4.1074
04/2019

Canadian genetic healthcare professionals’ attitudes towards discussing private pay options with patients
Molecular Genetics & Genomic Medicine
Vanessa Di Gioacchino and Sylvie Langlois and Alison M. Elliott
DOI: 10.1002/mgg3.572
04/2019

New developmental syndromes: Understanding the family experience
Journal of Genetic Counseling
Inglese, C.N. and Elliott, A.M. and Lehman, A.
DOI: 10.1002/jgc4.1121
2019

Atypical cerebral palsy: genomics analysis enables precision medicine
Genetics in Medicine
Matthews, A.M. and Blydt-Hansen, I. and Al-Jabri, B. and Andersen, J. and Tarailo-Graovac, M. and Price, M. and Selby, K. and Demos, M. and Connolly, M. and Drögemoller, B. and Shyr, C. and Mwenifumbo, J. and Elliott, A.M. and Lee, J. and Ghani, A. and Stöckler, S. and Salvarinova, R. and Vallance, H. and Sinclair, G. and Ross, C.J. and Wasserman, W.W. and McKinnon, M.L. and Horvath, G.A. and Goez, H. and van Karnebeek, C.D.
DOI: 10.1038/s41436-018-0376-y
2019

The Impact of Intensive Versus Standard Anthelminthic Treatment on Allergy-related Outcomes, Helminth Infection Intensity, and Helminth-related Morbidity in Lake Victoria Fishing Communities, Uganda: Results from the LaVIISWA Cluster-randomized Trial
Clinical Infectious Diseases
Sanya, R.E. and Nkurunungi, G. and Spaans, R.H. and Nampijja, M. and O'Hara, G. and Kizindo, R. and Oduru, G. and Nakawungu, P.K. and Niwagaba, E. and Abayo, E. and Kabagenyi, J. and Zziwa, C. and Tumusiime, J. and Nakazibwe, E. and Kaweesa, J. and Kakooza, F.M. and Akello, M. and Lubyayi, L. and Verweij, J. and Nash, S. and Van Ree, R. and Mpairwe, H. and Tukahebwa, E. and Webb, E.L. and Elliott, A.M. and Sanya, R. and Nampijja, M. and Mpairwe, H. and O'Hara, G. and Nerima, B. and Webb, E. and Spaans, R.H. and Muhangi, L. and Lubyayi, L. and Akurut, H. and Nalukenge, F. and Mirembe, B. and Okello, J. and Owilla, S. and Levin, J. and Nash, S. and Namutebi, M. and Zziwa, C. and Nakazibwe, E. and Tumusiime, J. and Ninsiima, C. and Amongi, S. and Kamukama, G. and Iwala, S. and Akello, F. and Akello, M. and Kizindo, R. and Sewankambo, M. and Nsubuga, D. and Cose, S. and Wammes, L. and Nakawungu, P.K. and Niwagaba, E. and Oduru, G. and Kabami, G. and Abayo, E. and Ssebagala, E. and Kakooza, F.M. and Kabagenyi, J. and Nkurunungi, G. and Nalwoga, A. and Kizito, D. and Tushabe, J.V. and Nassuuna, J. and Verweij, J. and Versteeg, S. and Van Ree, R. and Tumwesige, E. and Mpooya, S. and Abiriga, D. and Walusimbi, R. and Nannozi, V. and Kabonesa, C. and Kaweesa, J. and Tukahebwa, E. and Kizza, M. and Elliott, A.
DOI: 10.1093/cid/ciy761
2019

Support, information, and integration of genetics for children with congenital lower limb deficiencies in British Columbia, Canada
Paediatrics and Child Health (Canada)
Campbell, T. and Chen, C.-Y. and Chhina, H. and Chahal, R. and Cooper, A. and Elliott, A.M.
DOI: 10.1093/pch/pxz001
2019

The importance of genetic counselling in genome-wide sequencing
Nature Reviews Genetics
Alison M. Elliott and Jan M. Friedman
DOI: 10.1038/s41576-018-0057-3
12/2018

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia
Molecular Genetics & Genomic Medicine
Alison M. Elliott and Christèle du Souich and Shelin Adam and Nick Dragojlovic and Clara van Karnebeek and Tanya N. Nelson and Anna Lehman and Larry D. Lynd and Jan M. Friedman
DOI: 10.1002/mgg3.410
07/2018

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study
Genetics in Medicine
Dragojlovic, N. and Elliott, A.M. and Adam, S. and van Karnebeek, C. and Lehman, A. and Mwenifumbo, J.C. and Nelson, T.N. and du Souich, C. and Friedman, J.M. and Lynd, L.D.
DOI: 10.1038/gim.2017.226
2018

Schistosoma mansoni-specific immune responses and allergy in Uganda
Parasite Immunology
Nkurunungi, G. and Kabagenyi, J. and Nampijja, M. and Sanya, R.E. and Walusimbi, B. and Nassuuna, J. and Webb, E.L. and Elliott, A.M. and Mpairwe, H. and O?Hara, G. and Nerima, B. and Kizito, D. and Tushabe, J.V. and Verweij, J. and Cose, S. and Wammes, L. and Kabuubi, P. and Niwagaba, E. and Oduru, G. and Kabami, G. and Abayo, E. and Ssebagala, E. and Muwonge, F. and Spaans, R.H. and Muhangi, L. and Lubyayi, L. and Akurut, H. and Nalukenge, F. and Mirembe, B. and Okello, J. and Owilla, S. and Levin, J. and Nash, S. and Zziwa, C. and Nakazibwe, E. and Tumusiime, J. and Ninsiima, C. and Amongi, S. and Kamukama, G. and Iwala, S. and Akello, M. and Kizindo, R. and Sewankambo, M. and Nsubuga, D. and Tumwesige, E. and Abiriga, D. and Walusimbi, R. and Nannozi, V. and Kabonesa, C. and Kaweesa, J. and Tukahebwa, E. and Kizza, M. and Elliott, A.
DOI: 10.1111/pim.12506
2018

Evaluating the use of parental reports to estimate health care resource utilization in children with suspected genetic disorders
Journal of Evaluation in Clinical Practice
Dragojlovic, N. and Kim, E. and Elliott, A.M. and Friedman, J.M. and Lynd, L.D.
DOI: 10.1111/jep.12876
2018

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
American journal of human genetics
Lehman A and Thouta S and Mancini GMS and Naidu S and van Slegtenhorst M and McWalter K and Person R and Mwenifumbo J and Salvarinova R and CAUSES Study and EPGEN Study and Guella I and Claydon T
DOI: 10.1016/j.ajhg.2017.05.016
PubMed: 28669405
06/2017

Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly
Clinical Genetics
Zaragoza, M.V. and Hakim, S.A. and Hoang, V. and Elliott, A.M.
DOI: 10.1111/cge.12870
2017

Recommendations for the integration of genomics into clinical practice
Genetics in Medicine
DOI: 10.1038/gim.2016.17
11/2016

CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL
Nature Communications
Bartuzi, P. and Billadeau, D.D. and Favier, R. and Rong, S. and Dekker, D. and Fedoseienko, A. and Fieten, H. and Wijers, M. and Levels, J.H. and Huijkman, N. and Kloosterhuis, N. and Van Der Molen, H. and Brufau, G. and Groen, A.K. and Elliott, A.M. and Kuivenhoven, J.A. and Plecko, B. and Grangl, G. and McGaughran, J. and Horton, J.D. and Burstein, E. and Hofker, M.H. and Van De Sluis, B.
DOI: 10.1038/ncomms10961
2016

Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges
American Journal of Medical Genetics, Part A
Krakow, D. and Cohn, D.H. and Wilcox, W.R. and Noh, G.J. and Raffel, L.J. and Sarukhanov, A. and Ivanova, M.H. and Danielpour, M. and Grange, D.K. and Elliott, A.M. and Bernstein, J.A. and Rimoin, D.L. and Merrill, A.E. and Lachman, R.S.
DOI: 10.1002/ajmg.a.37772
2016

Case Report: Direct Access Genetic Testing and A False-Positive Result For Long QT Syndrome
Journal of Genetic Counseling
Predham, S. and Hamilton, S. and Elliott, A.M. and T. Gibson, W.
DOI: 10.1007/s10897-015-9882-0
2016

Derogatory nomenclature is still being used: The example of split hand/foot
American Journal of Medical Genetics, Part A
Elliott, A.M. and Evans, J.A.
DOI: 10.1002/ajmg.a.36952
2015

Schistosoma mansoni and HIV infection in a Ugandan population with high HIV and helminth prevalence
Tropical Medicine and International Health
Sanya, R.E. and Muhangi, L. and Nampijja, M. and Nannozi, V. and Nakawungu, P.K. and Abayo, E. and Webb, E.L. and Elliott, A.M. and Sanya, R. and Nerima, B. and Webb, E. and Muhangi, L. and Mirembe, B. and Okello, J. and Levin, J. and Namutebi, M. and Zziwa, C. and Nakazibwe, E. and Tumusiime, J. and Ninsiima, C. and Kamukama, G. and Amongin, S. and Akello, M. and Kizindo, R. and Sewankambo, M. and Nsubuga, D. and Nakawungu, P.K. and Niwagaba, E. and Oduru, G. and Kabami, G. and Abayo, E. and Kabagenyi, J. and Nkurunungi, G. and Muwonge, F. and Kizito, D. and Cose, S. and Abiriga, D. and Nannozi, V. and Mbaraga, B. and Musoke, R. and George, W. and Kaweesa, J. and Tukahebwa, E. and Elliott, A.
DOI: 10.1111/tmi.12545
2015

Vascular patterning regulates interdigital cell death by a ros-mediated mechanism
Development (Cambridge)
Eshkar-Oren, I. and Krief, S. and Ferrara, N. and Elliott, A.M. and Zelzer, E.
DOI: 10.1242/dev.120279
2015

Evaluation of a Clinical Genetics Service – A Quality Initiative
Journal of Genetic Counseling
Elliott, A.M. and Chodirker, B.N. and Bocangel, P. and Mhanni, A.A.
DOI: 10.1007/s10897-014-9713-8
2014

Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome
SpringerPlus
Friesen, K.J. and Chodirker, B.N. and Chudley, A.E. and Reed, M.H. and Elliott, A.M.
DOI: 10.1186/2193-1801-2-594
2013

A novel mutation in KIAA0196: Identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort
Journal of Medical Genetics
Elliott, A.M. and Simard, L.R. and Coghlan, G. and Chudley, A.E. and Chodirker, B.N. and Greenberg, C.R. and Burch, T. and Ly, V. and Hatch, G.M. and Zelinski, T.
DOI: 10.1136/jmedgenet-2013-101715
2013

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay
American Journal of Medical Genetics, Part A
Muller, E.A. and Aradhya, S. and Atkin, J.F. and Carmany, E.P. and Elliott, A.M. and Chudley, A.E. and Clark, R.D. and Everman, D.B. and Garner, S. and Hall, B.D. and Herman, G.E. and Kivuva, E. and Ramanathan, S. and Stevenson, D.A. and Stockton, D.W. and Hudgins, L.
DOI: 10.1002/ajmg.a.34216
2012

Trends in telehealth versus on-site clinical genetics appointments in Manitoba: A comparative study
Journal of Genetic Counseling
Elliott, A.M. and Mhanni, A.A. and Marles, S.L. and Greenberg, C.R. and Chudley, A.E. and Nyhof, G.C. and Chodirker, B.N.
DOI: 10.1007/s10897-011-9406-5
2012

Potential teratogenic effects of allopurinol: A case report
American Journal of Medical Genetics, Part A
Kozenko, M. and Grynspan, D. and Oluyomi-Obi, T. and Sitar, D. and Elliott, A.M. and Chodirker, B.N.
DOI: 10.1002/ajmg.a.34139
2011

A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature.
Genetics and molecular research : GMR
Elliott, A.M. and Bocangel, P. and Reed, M.H. and Greenberg, C.R.
DOI: 10.4238/vol9-3gmr897
2010

The developmental spectrum of proximal radioulnar synostosis
Skeletal Radiology
Elliott, A.M. and Kibria, L. and Reed, M.H.
DOI: 10.1007/s00256-009-0762-2
2010

Central ray deficiency with extensive syndactyly: A dilemma for classification
Genetic Counseling
Elliott, A.M. and Reed, M.H. and Evans, J.A.
2009

The carpal bones in Poland syndrome
Skeletal Radiology
Friedman, T. and Reed, M. and Elliott, A.M.
DOI: 10.1007/s00256-008-0638-x
2009

The association of split hand foot malformation (SHFM) and congenital heart defects
Birth Defects Research Part A - Clinical and Molecular Teratology
Elliott, A.M. and Evans, J.A.
DOI: 10.1002/bdra.20452
2008

Triphalangeal thumb in association with split hand/foot: A phenotypic marker for SHFM3?
Birth Defects Research Part A - Clinical and Molecular Teratology
Elliott, A.M. and Reed, M.H. and Evans, J.A.
DOI: 10.1002/bdra.20317
2007

Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology
American Journal of Medical Genetics, Part A
Elliott, A.M. and Wilcox, W.R. and Spear, G.S. and Field, F.M. and Steffensen, T.S. and Friedman, B.D. and Rimoin, D.L. and Lachman, R.S.
DOI: 10.1002/ajmg.a.31326
2006

Letter re: Fibula aplasia, tibial campomelia, and oligodactyly [5]
American Journal of Medical Genetics
Evans, J.A. and Elliott, A.M.
DOI: 10.1002/ajmg.a.31228
2006

Clinical and epidemiological findings in patients with central ray deficiency: Split hand foot malformation (SHFM) in Manitoba, Canada
American Journal of Medical Genetics, Part A
Elliott, A.M. and Reed, M.H. and Chudley, A.E. and Chodirker, B.N. and Evans, J.A.
DOI: 10.1002/ajmg.a.31245
2006

Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients
American Journal of Medical Genetics, Part A
Elliott, A.M. and Evans, J.A.
DOI: 10.1002/ajmg.a.31244
2006

Split hand foot malformation (SHFM)
Clinical Genetics
Elliott, A.M. and Evans, J.A. and Chudley, A.E.
DOI: 10.1111/j.1399-0004.2005.00530.x
2005

Hand involvement in schmid metaphyseal chondrodysplasia
American Journal of Medical Genetics
Elliott, A.M. and Field, F.M. and Rimoin, D.L. and Lachman, R.S.
DOI: 10.1002/ajmg.a.30433
2005

Discrepancies in upper and lower limb patterning in split hand foot malformation
Clinical Genetics
Elliott, A.M. and Reed, M.H. and Roscioli, T. and Evans, J.A.
DOI: 10.1111/j.1399-0004.2005.00511.x
2005

Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome
Clinical Dysmorphology
Elliott, A.M. and Reed, M.H. and Evans, J.A. and Cross, H.G. and Chudley, A.E.
DOI: 10.1097/01.mcd.0000127466.26888.15
2004

The duplicated longitudinal epiphysis or "kissing delta phalanx": Evolution and variation in three different disorders
Skeletal Radiology
Elliott, A.M. and Evans, J.A. and Chudley, A.E. and Reed, M.H.
DOI: 10.1007/s00256-004-0752-3
2004

A distinctive type of metaphyseal chondrodysplasia with characteristic thickening of the distal ulna and radius: Possible metaphyseal chondrodysplasia-Rosenberg
American Journal of Medical Genetics
Lee, Y.-S. and Elliott, A.M. and Loke, K.-Y. and Lachman, R.S.
2003

Cerebro-osseous-digital syndrome: Four new cases of a lethal skeletal dysplasia - Distinct from Neu-Laxova syndrome
American Journal of Medical Genetics
Elliott, A.M. and Gonzales, M. and Hoeffel, J.-C. and Merrer, M.L. and Maroteaux, P. and Encha-Razavi, F. and Joye, N. and Berchel, C. and Fliegel, C. and Aughton, D.J. and Beaudry-Rodgers, K. and Hasteh, F. and Nerlich, A.G. and Wilcox, W.R. and Rimoin, D.L. and Lachman, R.S. and Freisinger, P.
DOI: 10.1002/ajmg.10324
2002

Spectrum of dolichospondylic dysplasia: Two new patients with distinctive findings
American Journal of Medical Genetics
Elliott, A.M. and Graham Jr., J.M. and Curry, C.J.R. and Pal, T. and Rimoin, D.L. and Lachman, R.S.
DOI: 10.1002/ajmg.b.10656
2002

Member of the ampakine class of memory enhancers prolongs the single channel open time of reconstituted AMPA receptors
Synapse
Elliott, A.M. and Gonzales, M. and Hoeffel, J.-C. and Merrer, M.L. and Maroteaux, P. and Encha-Razavi, F. and Joye, N. and Berchel, C. and Fliegel, C. and Aughton, D.J. and Beaudry-Rodgers, K. and Hasteh, F. and Nerlich, A.G. and Wilcox, W.R. and Rimoin, D.L. and Lachman, R.S. and Freisinger, P.
DOI: 10.1002/syn.1037
2001

Progressive erosive arthropathy with contractures, multicentric osteolysis-like changes, characteristic craniofacial appearance, and dermatological abnormalities: A new syndrome?
American Journal of Medical Genetics
Teebi, A.S. and Elliott, A.M. and Michel Azouz, E. and Lachman, R.S.
DOI: 10.1002/ajmg.1263
2001

New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome
Clinical Dysmorphology
Elliott, A.M. and Teebi, A.S.
DOI: 10.1097/00019605-200009010-00003
2000

Scapuloiliac dysostosis (Kosenow syndrome, Pelvis-Shoulder Dysplasia) spectrum: Three additional cases
American Journal of Medical Genetics
Elliott, A.M. and Roeder, E.R. and Witt, D.R. and Rimoin, D.L. and Lachman, R.S.
DOI: 10.1002/1096-8628(20001218)95:53.0.CO;2-E
2000

Dyskeratosis congenita: An autosomal recessive variant
American Journal of Medical Genetics
Elliott, A.M. and Graham, G.E. and Bernstein, M. and Mazer, B. and Teebi, A.S.
DOI: 10.1002/(SICI)1096-8628(19990319)83:33.0.CO;2-3
1999

Fine localization of the Nijmegen breakage syndrome gene to 8q21: Evidence for a common founder haplotype
American Journal of Human Genetics
Cerosaletti, K.M. and Lange, E. and Stringham, H.M. and Weemaes, C.M.R. and Smeets, D. and Sölder, B. and Belohradsky, B.H. and Taylor, A.M.R. and Karnes, P. and Elliott, A. and Komatsu, K. and Gatti, R.A. and Boehnke, M. and Concannon, P.
DOI: 10.1086/301927
1998

Deletion of 22q11 in two brothers with different phenotype
American Journal of Medical Genetics
Kasprzak, L. and Der Kaloustian, V.M. and Elliott, A.M. and Shevell, M. and Lejtenyi, C. and Eydoux, P.
DOI: 10.1002/(SICI)1096-8628(19980123)75:33.0.CO;2-L
1998

Further examples of autosomal dominant transmission of nonsyndromic aplasia cutis congenita.
American journal of medical genetics
Elliott, A.M. and Teebi, A.S.
DOI: 10.1002/(sici)1096-8628(19971231)73:43.0.co;2-l
1997

Possible new variant of Nijmegen breakage syndrome
American Journal of Medical Genetics
Der Kaloustian, V.M. and Kleijer, W. and Booth, A. and Auerbach, A.D. and Mazer, B. and Elliott, A.M. and Abish, S. and Usher, R. and Watters, G. and Vekemans, M. and Eydoux, P.
DOI: 10.1002/(SICI)1096-8628(19961002)65:13.0.CO;2-0
1996

New syndrome?: MCA/MR syndrome with multiple circumferential skin creases
American Journal of Medical Genetics
Elliott, A.M. and Ludman, M. and Teebi, A.S.
DOI: 10.1002/(SICI)1096-8628(19960301)62:13.0.CO;2-X
1996

Schinzel-Giedion syndrome: Further delineation of the phenotype
Clinical Dysmorphology
Elliott, A.M. and Meagher-Villemure, K. and Oudjhane, K. and Der Kaloustian, V.M.
DOI: 10.1097/00019605-199604000-00005
1996

Skeletal and cardiac malformations with thrombocytopenia: A new syndrome?
American Journal of Medical Genetics
Rupps, R. and Elliott, A.M. and Azouz, E.M. and Bernstein, M.L. and Kaplan, P. and Eydoux, P. and Der Kaloustian, V.M.
DOI: 10.1002/(SICI)1096-8628(19960823)64:33.0.CO;2-G
1996

Another case of the human homologue of the mouse mutant disorganization.
American journal of medical genetics
Teebi, A.S. and Elliott, A.M.
DOI: 10.1002/ajmg.1320610106
1996

Severe intrauterine growth retardation with increased mitomycin C sensitivity, or Nijmegen breakage syndrome?
Journal of Medical Genetics
Der Kaloustian, V.M. and Elliott, A.M. and Eydoux, P.
DOI: 10.1136/jmg.32.12.998
1995

Developmental anomalies suggestive of the human homologue of the mouse mutant disorganization
American Journal of Medical Genetics
Elliott, A.M. and Chen, M.-F. and Azouz, E.M. and Teebi, A.S.
DOI: 10.1002/ajmg.1320550218
1995

Research

GenCOUNSEL
Optimization of genetic counselling with clinical implementation of genome-wide sequencing. This is a four-year project that will investigate the workforce need, different models of genetic counselling, integration of genetic counsellors into different fields of practice and research into professional regulation of genetic counsellors in Canada. GenCOUNSEL is the largest research genetic counselling grant ever awarded. (https://www.bcchr.ca/GenCOUNSEL). A related comment article was published in Nature Reviews Genetics (2018) The importance of genetic counselling with genome-wide sequencing (Elliott and Friedman).

CAUSES Clinic
CAUSES Clinic is embedded in a set of interdisciplinary research activities that will provide the evidence needed to justify provincial funding for genome-wide sequencing as a regular clinical service for patients with severe undiagnosed diseases.

RAPIDOMICS
I led the development, funding, ethics approval and implementation of a neonatal rapid genomic sequencing pilot project in the Neonatal Intensive Care Unit at BC Women's Hospital (funded by Genome BC and the Provincial Health Services Authority) – “RAPIDOMICS." Related publications: Smith, du Souich, Dragojlovic, CAUSES, RAPIDOMICS and Elliott: Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit – published in the Journal of Genetic Counselling and Elliott et al. - Rapid genome-wide sequencing in a neonatal intensive care unit: Successes and Challenges (published in the European Journal of Pediatrics, 2019). We are also conducting a detailed health economic study of rapid sequencing in the NICU.
Our team is currently studying genetic counselling issues in families who undergo rapid sequencing in the NICU at the pre- and post-result stage.

Skeletal Disorders
One of my primary research interests involves developmental abnormalities of the skeleton, in particular the limb. Split hand foot malformation (SHFM) is one example of a limb deficiency disorder. It is highly variable – both phenotypically and genotypically. Some affected individuals have a very mild form that may result in no missing digits and only affects one limb; whereas others may have a severe form that affects all four limbs. The existing classification systems for SHFM do not encompass the full phenotypic spectrum. I am currently developing a new classification system for SHFM and am collaborating with other investigators to determine the genetic mechanisms in affected patients. I am also investigating how patients and families deal with limb deficiencies. I am very interested in further understanding the interplay between the vascular and osseous systems within the developing limb.

Grants

Molecular Characterization of Skeletal Disorders in Manitoba Patients, Manitoba Institute of Child Health, Principal Investigator

Phenotypic and Genotypic Characterization of Ritscher-Schinzel Syndrome Patients, Manitoba Medical Services Foundation, Principal Investigator

GenCOUNSEL: Optimization of genetic counselling with clinical implementation of genome-wide sequencing, Genome Canada

RAPIDOMICS: Rapid sequencing in the neonatal intensive care unit, Genome BC

Honours & Awards

Top poster award 2016 David W. Smith Meeting on Malformations of Morphogenesis (Elliott, When Developmental Fields are not Respected: The case of monodactylous split hand foot malformation (SHFM))

Top abstract award 2017 American Clinical Genetics and Genomics Meeting (Elliott et al., Interpreting the Interpretation: The CAUSES Research Clinic Experience), a study that investigated the discrepancies between laboratory reporting and research classifications in patients who have undergone genome-wide sequencing.

Reviewer’s Choice abstract award 2018 American Society of Human Genetics Annual Meeting (Elliott et al., Blended Phenotypes: An Interesting subset of the first 400 patients of the CAUSES Research Study).

2018 Canadian Association of Genetic Counsellors National Award: Professional Practice, Innovation and Advocacy Leadership Award

Research Group Members

Daniel Assamad, Project Assistant
Rhea Beauchesne, Research Assistant
Courtney Cook, Genetic Counsellor, MSc.
Alivia Dey, Research Staff
Lauren Jennings
Isabel Kim
Kyrstin Lavelle
Carly Pistawka
Bhavya Sabbineni
Alice Virani, Co-Investigator Project: GenCOUNSEL
Tasha Wainstein, Research Assistant
David Yeung