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