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
DOI: 10.1159/000530683
2023

Genetic counselling resources in non-english languages: A scoping review
PEC Innovation
DOI: 10.1016/j.pecinn.2023.100135
2023

Workforce Implications of Increased Referrals to Hereditary Cancer Services in Canada: A Scenario-Based Analysis
Current Oncology
DOI: 10.3390/curroncol30080525
2023

A Rapid Review on the Value of Biobanks Containing Genetic Information
Value in Health
DOI: 10.1016/j.jval.2023.02.017
2023

A novel online genomic counseling and variant interpretation certificate: Learning design, learning analytics, and evaluation
Journal of Genetic Counseling
DOI: 10.1002/jgc4.1737
2023

Considerations for the use of qualitative methodologies in genetic counseling research
Journal of Genetic Counseling
DOI: 10.1002/jgc4.1644
2023

Advancing the Quintuple Aim for Health Care Improvement Through the Integration of Genetic Counselors into Primary Care
American Journal of Medicine
DOI: 10.1016/j.amjmed.2023.08.017
2023

Promoting methodological integrity in qualitative genetic counseling research: Insights arising from the commentary by Lynch, Gillam, and Vears
Journal of Genetic Counseling
DOI: 10.1002/jgc4.1827
2023

Evaluation of out-of-pocket pay genetic testing in a publicly funded healthcare system
Clinical Genetics
DOI: 10.1111/cge.14276
2023

Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study
Journal of Telemedicine and Telecare
DOI: 10.1177/1357633X20982737
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

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
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

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

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

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 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

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

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

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

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
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

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

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

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
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

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

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

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

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

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

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

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

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
2020

Renpenning syndrome in a female
American Journal of Medical Genetics, Part A
Cho, R.Y. and Peñaherrera, 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
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
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-Bénéjean, 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 Olivié, 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 Õunap, K. and Filiano, J.J. and Smol, T. and Piton, A. and Gérard, B. and Chantot-Bastaraud, S. and Bienvenu, T. and Li, D. and Juusola, J. and Devriendt, K. and Bilan, F. and Poé, C. and Chevarin, M. and Jouan, T. and Tisserant, E. and Rivière, 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
2020

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
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 : 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
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

New developmental syndromes: Understanding the family experience
Journal of Genetic Counseling
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

Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit
Journal of Genetic Counseling
DOI: 10.1002/jgc4.1074
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

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
2019

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

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
2018

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
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

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

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
2017

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

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

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
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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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