Alison Elliott

MSc, H.BSc, DPHIL

Principal Investigator
Project Lead, GenCOUNSEL
Associate Member, Women's Health Research Institute
Project Lead, CAUSES Clinic
Investigator, BC Children's Hospital

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.

Academic Affiliations

  • Associate Professor, , Department of Medical Genetics, Faculty of Medicine, University of British Columbia
  • Research Theme: Childhood Diseases
  • Research Group(s): Rare Diseases

Contact Information

Location

950 West 28th Avenue, Vancouver, British Columbia, Canada, V5Z 4H4

Paths of legal recognition of genetic counselors in Canada: A framework for action

Journal of Genetic Counseling

Dimitri Patrinos and Ana Eliza Bonilha and Bartha Maria Knoppers and Alison M. Elliott and Man H. Zawati

DOI: 10.1002/jgc4.70159

02 / 2026

Evaluating family-centred care at BC Children's Hospital: Healthcare providers' perspectives

Journal of Evaluation in Clinical Practice

Kolar, T. and Cook, C.B. and Cooper, A. and Blydt-Hansen, T. and Connolly, M.B. and Boelman, C. and Chhina, H. and Datta, A. and Demos, M. and Hildebrand, K.J. and Selby, K. and Shen, Y. and Wenderfer, S.E. and Elliott, A.M.

DOI: 10.1111/jep.14187

Parental perspectives on family-centered care in pediatric neurology: An explanatory sequential mixed-methods study

Developmental Medicine and Child Neurology

Sarikaya, E. and Cook, C.B. and Selby, K.A. and Shen, Y. and Elliott, A.M. and Austin, J. and Knoppers, B. 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. and Elliott, A.M.

DOI: 10.1111/dmcn.16275

Genetic counselors outside of the genetics clinic: Roles, practices, and ethico-legal implications in light of lagging legal recognition across Canada

Journal of Genetic Counseling

Rojas, S.K. and Adam, S. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. 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 Elliott, A.M. and Zawati, M.H.

DOI: 10.1002/jgc4.1943

Correction: Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services (Orphanet Journal of Rare Diseases, (2025), 20, 1, (450), 10.1186/s13023-025-03968-x)

Orphanet Journal of Rare Diseases

Wainstein, T. and Boelman, C. and Ens, C. and Gibson, W.T. and Gregory-Evans, K. and Kolawole, O.U. and Marshall, S.K. and Selby, K. and Austin, J. and Elliott, A.M.

DOI: 10.1186/s13023-025-04023-5

45th Annual David Smith Workshop on Malformations and Morphogenesis

American Journal of Medical Genetics Part A

Elliott, A.M. and Innes, A.M.

DOI: 10.1002/ajmg.a.64194

Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services

Orphanet Journal of Rare Diseases

Wainstein, T. and Boelman, C. and Ens, C. and Gibson, W.T. and Gregory-Evans, K. and Kolawole, O.U. and Marshall, S.K. and Selby, K. and Zawati, M. and Wasserman, W. and Virani, A. and Pullman, D. and Lambert, D. and Friedman, J. and Dragojlovic, N. and Clarke, L. and Birch, P. and Bansback, N. and Adam, S. and Dey, A. and Lynd, L.D. and Knoppers, B. and Elliott, A.M. and Austin, J.

DOI: 10.1186/s13023-025-03968-x

How does personal utility depend on clinical setting? Evidence from 3 cohorts

Genetics in Medicine Open

Poole, E. and Luca, S. and Assamad, D. and Xiao, B. and Yan, J. and Xia, Y.Y. and Abbott, L.S. and Armstrong, L. and Birch, P. and Boycott, K.M. and Carroll, J.C. and Chad, L. and Chitayat, D. and Denburg, A. and Deyell, R.J. and Elliott, A.M. and Goudie, C. and Laberge, A.-M. and Maio, M. and Peltekova, I.T. and Quinlan, B. and Sawyer, S.L. and Silver, R. and Smith, M. and Teitelbaum, R. and Villani, A. and Ungar, W.J. and Hayeems, R.Z.

DOI: 10.1016/j.gimo.2025.103453

Empowerment in Adolescent Patients with a Disability/Chronic Condition: A Scoping Review

Children

Austin, K. and Pistawka, C. and Ross, C.J.D. and Selby, K.A. and Virani, A. and Kitchin, V. and Elliott, A.M.

DOI: 10.3390/children12010049

The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review

Genetics in Medicine

Cook, C.B. and Pistawka, C. and Elliott, A.M. and Austin, J. and Knoppers, B. 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.

DOI: 10.1016/j.gim.2025.101354

Barriers and facilitators to designing, maintaining, and utilizing rare disease patient registries: a scoping review protocol

Jbi Evidence Synthesis

Stratton, C. and Taylor, A. and Konstantinidis, M. and McNiven, V. and Kannu, P. and Gill, P. and Stedman, I. and Veroniki, A.A. and Offringa, M. and Potter, B. and Wong-Rieger, D. and Adams, J. and Hodgkinson, K. and Elliott, A.M. and Neville, A. and Faughnan, M. and Dyack, S. and Zhelnov, P. and Daly-Cyr, J. and McGowan, J. and Straus, S. and Smith, M. and Rosella, L. and Tricco, A.C.

DOI: 10.11124/JBIES-24-00091

Putting control into parents' hands: Parent experiences with a genomic results e-booklet

Journal of Genetic Counseling

Adam, S. and Gombas, P. and Demos, M. and Boelman, C. and Connolly, M.B. and Lavelle, K. and Friedman, J.M. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Bansback, N. and Clarke, L. and Dragojlovic, N. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M. and Elliott, A.M. and Birch, P.

DOI: 10.1002/jgc4.70095

Evaluating parental satisfaction and empowerment with genetic testing in the Neonatal Intensive Care Unit (NICU)

European Journal of Medical Genetics

Kim, S. and Osiovich, H. and Langlois, S. and Virani, A. and Shen, Y. and Elliott, A.M.

DOI: 10.1016/j.ejmg.2025.105014

Promoting methodological integrity in qualitative genetic counseling research: Insights arising from the commentary by Lynch, Gillam, and Vears

Journal of Genetic Counseling

Wainstein, T. and Elliott, A.M. and Austin, J.C.

DOI: 10.1002/jgc4.1827

Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

Clinical Genetics

Kim, S. and Pistawka, C. and Langlois, S. and Osiovich, H. and Virani, A. and Kitchin, V. and Elliott, A.M.

DOI: 10.1111/cge.14446

Exploring Canadian genetic counselors' perspectives and experiences with discussing medical assistance in dying (MAiD)

Journal of Genetic Counseling

Candlish, R.C. and Creighton, S. and Pullman, D. and Elliott, A.M.

DOI: 10.1002/jgc4.1843

Adolescents' implicit and explicit attitudes toward their peers with genetic conditions

Journal of Adolescence

Wainstein, T. and Yeung, D. and Jennings, L. and Elliott, A.M.

DOI: 10.1002/jad.12335

Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada

Genetics in Medicine

Regier, D.A. and Loewen, R. and Chan, B. and Ehman, M. and Pollard, S. and Friedman, J.M. and Stockler-Ipsiroglu, S. and van Karnebeek, C. and Race, S. and Elliott, A.M. and Dragojlovic, N. and Lynd, L.D. and Weymann, D.

DOI: 10.1016/j.gim.2024.101069

Non-Genetic Healthcare Providers Experiences and Perspectives with Rapid Genome-Wide Sequencing in Canadian Neonatal Intensive Care Units

Children

Piers, L. and Wainstein, T. and Pelligra, G. and Osiovich, H. and Elliott, A.M.

DOI: 10.3390/children11080910

Health Care Costs after Genome-Wide Sequencing for Children with Rare Diseases in England and Canada

JAMA Network Open

Weymann, D. and Buckell, J. and Fahr, P. and Loewen, R. and Ehman, M. and Pollard, S. and Friedman, J.M. and Stockler-Ipsiroglu, S. and Elliott, A.M. and Wordsworth, S. and Buchanan, J. and Regier, D.A.

DOI: 10.1001/jamanetworkopen.2024.20842

Genetic counselors' research dissemination practices and attitudes

Journal of Genetic Counseling

Blanche, E. and Wainstein, T. and Dey, A. and Elliott, A.M.

DOI: 10.1002/jgc4.1743

Where there is no genetic counselor: An online decision-aid supports the majority of parents diagnostic genomic testing choices for their children

Genetics in Medicine

Birch, P. and Beauchesne, R. and Bansback, N. and Boelman, C. and Connolly, M. and Demos, M. and Friedman, J.M. and Race, S. and Stockler, S. and Elliott, L.M. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Adam, S. and Clarke, L. and Dragojlovic, N. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M. and Elliott, A.M.

DOI: 10.1016/j.gim.2024.101173

A Genetic Counselor's Reflections on Lessons Learned, Challenges, and Successes Experienced during a One-Year Pilot Integration in a Primary Care Clinic

Public Health Genomics

Carrion, P.B. and Austin, J. and Elliott, A.M.

DOI: 10.1159/000530683

Genetic counselling resources in non-english languages: A scoping review

PEC Innovation

Beauchesne, R. and Birch, P. and Elliott, A.M.

DOI: 10.1016/j.pecinn.2023.100135

Workforce Implications of Increased Referrals to Hereditary Cancer Services in Canada: A Scenario-Based Analysis

Current Oncology

Dragojlovic, N. and Borle, K. and Kopac, N. and Nisselle, A. and Nuk, J. and Jevon, M. and Friedman, J.M. and Elliott, A.M. and Lynd, L.D.

DOI: 10.3390/curroncol30080525

A Rapid Review on the Value of Biobanks Containing Genetic Information

Value in Health

Rodriguez Llorian, E. and Kopac, N. and Waliji, L.A. and Borle, K. and Dragojlovic, N. and Elliott, A.M. and Lynd, L.D.

DOI: 10.1016/j.jval.2023.02.017

A novel online genomic counseling and variant interpretation certificate: Learning design, learning analytics, and evaluation

Journal of Genetic Counseling

Macfadyen, L.P. and Austin, J. and Cao, P. and Cheng, J. and Cremin, C. and Duong, L. and Elliott, A.M. and Guimond, C. and Lim, S. and Race, S. and Rajan-Babu, I.-S. and Richardson, A. and Wainstein, T. and Zahir, F. and Birch, P.H.

DOI: 10.1002/jgc4.1737

Considerations for the use of qualitative methodologies in genetic counseling research

Journal of Genetic Counseling

Wainstein, T. and Elliott, A.M. and Austin, J.C.

DOI: 10.1002/jgc4.1644

Advancing the Quintuple Aim for Health Care Improvement Through the Integration of Genetic Counselors into Primary Care

American Journal of Medicine

Borle, K. and Michaels, N.J. and Evans, D.R. and Elliott, A.M. and Price, M. and Austin, J.

DOI: 10.1016/j.amjmed.2023.08.017

Evaluation of out-of-pocket pay genetic testing in a publicly funded healthcare system

Clinical Genetics

Grant, P. and Cook, C.B. and Langlois, S. and Nuk, J. and Mung, S. and Zhang, Q. and Lynd, L.D. and Austin, J. and Elliott, A.M.

DOI: 10.1111/cge.14276

Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study

Journal of Telemedicine and Telecare

Elliott, A.M. and Dragojlovic, N. and Campbell, T. and Adam, S. and Souich, C.D. and Fryer, M. and Lehman, A. and Karnebeek, C.V. and Lynd, L.D. and Friedman, J.M.

DOI: 10.1177/1357633X20982737

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

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

Implementing genomics in the neonatal period: An assessment of parental decision making and anxiety

Journal of Genetic Counseling

Wainstein, T. and Campbell, T. and Stojkova, B.J. and Lavoie, P.M. and Elliott, A.M.

DOI: 10.1002/jgc4.1605

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

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

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

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

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

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

Genetic counseling considerations in cerebral palsy

Molecular Genetics and Metabolism

Elliott, A.M. and Guimond, C.

DOI: 10.1016/j.ymgme.2021.07.004

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

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

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

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

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

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

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

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

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

Rapid genome-wide sequencing in a neonatal intensive care unit: A retrospective qualitative exploration of parental experiences

Journal of Genetic Counseling

Aldridge, C.E. and Osiovich, H. and Siden, H. and Elliott, A.M. and Candido, T. and Christilaw, J. and Dragojlovic, N. and du Souich, C. and Evans, D.M. and Farrer, M.J. and Friedman, J.M. and Guella, I. and Lehman, A. and Lynd, L. and Tooman, L. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.

DOI: 10.1002/jgc4.1353

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

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

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

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

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-Gonzlez, 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 Martnez, 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

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

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

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

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

Shortened consent forms for genome-wide sequencing: Parent and provider perspectives

Molecular Genetics and Genomic Medicine

Hitchcock, E.C. and Study, C.A.U.S.E.S. and Elliott, A.M.

DOI: 10.1002/mgg3.1254

Renpenning syndrome in a female

American Journal of Medical Genetics, Part A

Cho, R.Y. and Peaherrera, M.S. and Du Souich, C. and Huang, L. and Mwenifumbo, J. and Nelson, T.N. and Elliott, A.M. and Adam, S. and Eydoux, P. and Yang, G.X. and Chijiwa, C. and Van Allen, M.I. and Friedman, J.M. and Robinson, W.P. and Lehman, A.

DOI: 10.1002/ajmg.a.61451

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

Nambot, S. and Faivre, L. and Mirzaa, G. and Thevenon, J. and Bruel, A.-L. and Mosca-Boidron, A.-L. and Masurel-Paulet, A. and Goldenberg, A. and Le Meur, N. and Charollais, A. and Mignot, C. and Petit, F. and Rossi, M. and Metreau, J. and Layet, V. and Amram, D. and Boute-Bnjean, O. and Bhoj, E. and Cousin, M.A. and Kruisselbrink, T.M. and Lanpher, B.C. and Klee, E.W. and Fiala, E. and Grange, D.K. and Meschino, W.S. and Hiatt, S.M. and Cooper, G.M. and Olivi, H. and Smith, W.E. and Dumas, M. and Lehman, A. and Adam, S. and du Souich, C. and Elliott, A.M. and Mwenifumbo, J. and Nelson, T.N. and van Karnebeek, C. and Friedman, J.M. and Inglese, C. and Nizon, M. and Guerrini, R. and Vetro, A. and Kaplan, E.S. and Miramar, D. and Van Gils, J. and Fergelot, P. and Bodamer, O. and Herkert, J.C. and Pajusalu, S. and unap, K. and Filiano, J.J. and Smol, T. and Piton, A. and Grard, B. and Chantot-Bastaraud, S. and Bienvenu, T. and Li, D. and Juusola, J. and Devriendt, K. and Bilan, F. and Po, C. and Chevarin, M. and Jouan, T. and Tisserant, E. and Rivire, J.-B. and Tran Mau-Them, F. and Philippe, C. and Duffourd, Y. and Dobyns, W.B. and Thauvin-Robinet, C. and Thauvin-Robinet, C.

DOI: 10.1038/s41431-020-0571-6

Correction: The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review (Genetics in Medicine, (2020), 22, 9, (1437-1449), 10.1038/s41436-020-0825-2)

Genetics in Medicine

Dragojlovic, N. and Borle, K. and Kopac, N. and Ellis, U. and Birch, P. and Adam, S. and Friedman, J.M. and Nisselle, A. and Elliott, A.M. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Bansback, N. and Clarke, L. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.

DOI: 10.1038/s41436-020-0903-5

Genetic counseling and genome sequencing in pediatric rare disease

Cold Spring Harbor Perspectives in Medicine

Elliott, A.M.

DOI: 10.1101/cshperspect.a036632

The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders.

Genetics in medicine : official journal of the American College of Medical Genetics

Dragojlovic N and van Karnebeek CDM and Ghani A and Genereaux D and Kim E and Birch P and CAUSES Study and Elliott AM and Friedman JM and Lynd LD

DOI: 10.1038/s41436-019-0635-6 PubMed: 31462755

08 / 2019

Canadian genetic healthcare professionals attitudes towards discussing private pay options with patients

Molecular Genetics and Genomic Medicine

Di Gioacchino, V. and Langlois, S. and Elliott, A.M.

DOI: 10.1002/mgg3.572

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

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

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 Drgemoller, B. and Shyr, C. and Mwenifumbo, J. and Elliott, A.M. and Lee, J. and Ghani, A. and Stckler, 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

Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit

Journal of Genetic Counseling

Smith, E.E. and du Souich, C. and Dragojlovic, N. and Elliott, A.M.

DOI: 10.1002/jgc4.1074

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

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit"successes and challenges

European Journal of Pediatrics

Elliott, A.M. and du Souich, C. and Lehman, A. and Guella, I. and Evans, D.M. and Candido, T. and Tooman, L. and Armstrong, L. and Clarke, L. and Gibson, W. and Gill, H. and Lavoie, P.M. and Lewis, S. and McKinnon, M.L. and Nikkel, S.M. and Patel, M. and Solimano, A. and Synnes, A. and Ting, J. and van Allen, M. and Christilaw, J. and Farrer, M.J. and Friedman, J.M. and Osiovich, H.

DOI: 10.1007/s00431-019-03399-4

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

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia

Molecular Genetics and Genomic Medicine

Elliott, A.M. and du Souich, C. and Adam, S. and Dragojlovic, N. and van Karnebeek, C. and Nelson, T.N. and Lehman, A. and Lynd, L.D. and Friedman, J.M.

DOI: 10.1002/mgg3.410

The importance of genetic counselling in genome-wide sequencing

Nature Reviews Genetics

Elliott, A.M. and Friedman, J.M.

DOI: 10.1038/s41576-018-0057-3

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

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

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

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, G.M.S. and Naidu, S. and van Slegtenhorst, M. and McWalter, K. and Person, R. and Mwenifumbo, J. and Salvarinova, R. and Adam, S. and du Souich, C. and Elliott, A.M. and Nelson, T.N. and van Karnebeek, C. and Friedman, J.M. and Boelman, C. and Bolbocean, C. and Buerki, S.E. and Candido, T. and Eydoux, P. and Evans, D.M. and Gibson, W. and Horvath, G. and Huh, L. and Sinclair, G. and Tarling, T. and Toyota, E.B. and Townsend, K.N. and Van Allen, M.I. and Vercauteren, S. and Guella, I. and McKenzie, M.B. and Datta, A. and Connolly, M.B. and Kalkhoran, S.M. and Poburko, D. and Farrer, M.J. and Demos, M. and Desai, S. and Claydon, T.

DOI: 10.1016/j.ajhg.2017.05.016

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

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

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

Recommendations for the integration of genomics into clinical practice

Genetics in Medicine

Bowdin, S. and Gilbert, A. and Bedoukian, E. and Carew, C. and Adam, M.P. and Belmont, J. and Bernhardt, B. and Biesecker, L. and Bjornsson, H.T. and Blitzer, M. and D'Alessandro, L.C.A. and Deardorff, M.A. and Demmer, L. and Elliott, A. and Feldman, G.L. and Glass, I.A. and Herman, G. and Hindorff, L. and Hisama, F. and Hudgins, L. and Innes, A.M. and Jackson, L. and Jarvik, G. and Kim, R. and Korf, B. and Ledbetter, D.H. and Li, M. and Liston, E. and Marshall, C. and Medne, L. and Meyn, M.S. and Monfared, N. and Morton, C. and Mulvihill, J.J. and Plon, S.E. and Rehm, H. and Roberts, A. and Shuman, C. and Spinner, N.B. and Stavropoulos, D.J. and Valverde, K. and Waggoner, D.J. and Wilkens, A. and Cohn, R.D. and Krantz, I.D.

DOI: 10.1038/gim.2016.17

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

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

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

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

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

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

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

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

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

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

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

Central ray deficiency with extensive syndactyly: A dilemma for classification

Genetic Counseling

Elliott, A.M. and Reed, M.H. and Evans, J.A.

The carpal bones in Poland syndrome

Skeletal Radiology

Friedman, T. and Reed, M. and Elliott, A.M.

DOI: 10.1007/s00256-008-0638-x

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

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

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

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

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

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

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

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

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

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

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

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.

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

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

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

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

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

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)95:5u003C496::AID-AJMG16u003E3.0.CO;2-E

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)83:3u003C178::AID-AJMG6u003E3.0.CO;2-3

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)75:3u003C288::AID-AJMG12u003E3.0.CO;2-L

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 Slder, 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

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)73:4u003C495::aid-ajmg25u003E3.0.co;2-l

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)64:3u003C497::AID-AJMG10u003E3.0.CO;2-G

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

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)62:1u003C23::AID-AJMG5u003E3.0.CO;2-X

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)65:1u003C21::AID-AJMG3u003E3.0.CO;2-0

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

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

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

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

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