Genetic counseling research and COVID-19: A lesson in resiliency
Journal of Genetic Counseling
DOI: 10.1002/jgc4.1502
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

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

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

Far and wide: Exploring provider utilization of remote service provision for genome-wide sequencing in Canada
Molecular Genetics and Genomic Medicine
Enns, E.A. and Wainstein, T. and Dragojlovic, N. and Kopac, N. and Lynd, L.D. and Elliott, A.M. and Austin, J. and Knoppers, B. 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/mgg3.1784
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

Out-of-pocket and private pay in clinical genetic testing: A scoping review
Clinical Genetics
Grant, P. and Langlois, S. and Lynd, L.D. and Austin, J.C. and Elliott, A.M. and Dragojlovic, N. and Knoppers, B. 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, Z.
DOI: 10.1111/cge.14006
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

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.D. and Tooman, L. and Austin, J. and Knoppers, B. 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

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

Correction: The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review.
Genetics in medicine : official journal of the American College of Medical Genetics
Dragojlovic N and Borle K and Kopac N and Ellis U and Birch P and Adam S and Friedman JM and Nisselle A and GenCOUNSEL Study and Elliott AM and Lynd LD
DOI: 10.1038/s41436-020-0903-5
PubMed: 32651549
09/2020

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

The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders
Genetics in Medicine
Dragojlovic, N. and van Karnebeek, C.D.M. and Ghani, A. and Genereaux, D. and Kim, E. and Birch, P. and Adam, S. and Dragojlovic, N. and du Souich, C. and Elliott, A.M. and Lehman, A. and Lynd, L. and Mwenifumbo, J. and Nelson, T.N. and van Karnebeek, C. and Friedman, J.M. and Elliott, A.M. and Friedman, J.M. and Lynd, L.D.
DOI: 10.1038/s41436-019-0635-6
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 Lehman, A. 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 Hevner, R. and Thauvin-Robinet, C.
DOI: 10.1038/s41431-020-0571-6
2020

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions
Journal of Genetic Counseling
Adam, S. and Birch, P.H. and Coe, R.R. and Bansback, N. and Jones, A.L. and Connolly, M.B. and Demos, M.K. and Toyota, E.B. and Farrer, M.J. and Friedman, J.M.
DOI: 10.1007/s10897-018-0281-1
2019

Assessing Shared Decision-Making Clinical Behaviors Among Genetic Counsellors
Journal of Genetic Counseling
Birch, P.H. and Adam, S. and Coe, R.R. and Port, A.V. and Vortel, M. and Friedman, J.M. and Légaré, F.
DOI: 10.1007/s10897-018-0285-x
2019

Diagnostic yield and treatment impact of targeted exome sequencing in early-onset epilepsy
Frontiers in Neurology
Demos, M. and Guella, I. and DeGuzman, C. and McKenzie, M.B. and Buerki, S.E. and Evans, D.M. and Toyota, E.B. and Boelman, C. and Huh, L.L. and Datta, A. and Michoulas, A. and Selby, K. and Bjornson, B.H. and Horvath, G. and Lopez-Rangel, E. and Van Karnebeek, C.D.M. and Salvarinova, R. and Slade, E. and Eydoux, P. and Adam, S. and Van Allen, M.I. and Nelson, T.N. and Bolbocean, C. and Connolly, M.B. and Farrer, M.J.
DOI: 10.3389/fneur.2019.00434
2019

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders
Journal of medical genetics
Jobling, R. and Stavropoulos, D.J. and Marshall, C.R. and Cytrynbaum, C. and Axford, M.M. and Londero, V. and Moalem, S. and Orr, J. and Rossignol, F. and Lopes, F.D. and Gauthier, J. and Alos, N. and Rupps, R. and McKinnon, M. and Adam, S. and Nowaczyk, M.J.M. and Walker, S. and Scherer, S.W. and Nassif, C. and Hamdan, F.F. and Deal, C.L. and Soucy, J.-F. and Weksberg, R. and Macleod, P. and Michaud, J.L. and Chitayat, D.
DOI: 10.1136/jmedgenet-2017-105222
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 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

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
American journal of human genetics
DOI: 10.1016/j.ajhg.2017.11.013
PubMed: 29276005
12/2017

Controversy and debate on clinical genomics sequencing—paper 4: clinical genome-wide sequencing: response to Wilson, Miller, and Rousseau
Journal of Clinical Epidemiology
Adam, S. and Friedman, J.M.
DOI: 10.1016/j.jclinepi.2017.09.019
2017

Controversy and debate on clinical genomics sequencing—paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater!
Journal of Clinical Epidemiology
Adam, S. and Friedman, J.M.
DOI: 10.1016/j.jclinepi.2017.08.020
2017

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
American Journal of Human Genetics
Guella, I. and McKenzie, M.B. and Evans, D.M. and Buerki, S.E. and Toyota, E.B. and Van Allen, M.I. and Adam, S. and Boelman, C. and Bolbocean, C. and Candido, T. and Eydoux, P. and Horvath, G. and Huh, L. and Nelson, T.N. and Sinclair, G. and van Karnebeek, C. and Vercauteren, S. and Suri, M. and Elmslie, F. and Simon, M.E.H. and van Gassen, K.L.I. and Héron, D. and Keren, B. and Nava, C. and Connolly, M.B. and Demos, M. and Farrer, M.J.
DOI: 10.1016/j.ajhg.2017.07.004
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

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy
American Journal of Medical Genetics, Part A
Thibodeau, M.L. and Peters, C.H. and Townsend, K.N. and Shen, Y. and Hendson, G. and Adam, S. and Selby, K. and Macleod, P.M. and Gershome, C. and Ruben, P. and Jones, S.J.M. and Friedman, J.M. and Gibson, W.T. and Horvath, G.A.
DOI: 10.1002/ajmg.a.38400
2017

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2
Pediatric Neurology
Wilbur, C. and Buerki, S.E. and Guella, I. and Toyota, E.B. and Evans, D.M. and McKenzie, M.B. and Datta, A. and Michoulas, A. and Adam, S. and Van Allen, M.I. and Nelson, T.N. and Farrer, M.J. and Connolly, M.B. and Demos, M.
DOI: 10.1016/j.pediatrneurol.2017.06.003
2017

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy
Neurology: Genetics
Guella, I. and Huh, L. and McKenzie, M.B. and Toyota, E.B. and Martina Bebin, E. and Thompson, M.L. and Cooper, G.M. and Evans, D.M. and Buerki, S.E. and Adam, S. and Van Allen, M.I. and Nelson, T.N. and Connolly, M.B. and Farrer, M.J. and Demos, M.
DOI: 10.1212/NXG.0000000000000120
2016

Comparing the ability of OPTION¹² and OPTION⁵ to assess shared decision-making in genetic counselling.
Patient Education and Counseling
Vortel, M.A. and Adam, S. and Port-Thompson, A.V. and Friedman, J.M. and Grande, S.W. and Birch, P.H.
DOI: 10.1016/j.pec.2016.03.024
2016

Parents' Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing
Journal of Nursing Scholarship
Li, K.C. and Birch, P.H. and Garrett, B.M. and Macphee, M. and Adam, S. and Friedman, J.M.
DOI: 10.1111/jnu.12207
2016

Individual DNA samples and health information sold by 23andMe
Genetics in Medicine
Adam, S. and Friedman, J.M.
DOI: 10.1038/gim.2015.82
2016

DECIDE: a Decision Support Tool to Facilitate Parents’ Choices Regarding Genome-Wide Sequencing
Journal of Genetic Counseling
Birch, P. and Adam, S. and Bansback, N. and Coe, R.R. and Hicklin, J. and Lehman, A. and Li, K.C. and Friedman, J.M.
DOI: 10.1007/s10897-016-9971-8
2016

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position statement of the Canadian College of medical geneticists
Journal of Medical Genetics
Boycott, K. and Hartley, T. and Adam, S. and Bernier, F. and Chong, K. and Fernandez, B.A. and Friedman, J.M. and Geraghty, M.T. and Hume, S. and Knoppers, B.M. and Laberge, A.-M. and Majewski, J. and Mendoza-Londono, R. and Meyn, M.S. and Michaud, J.L. and Nelson, T.N. and Richer, J. and Sadikovic, B. and Skidmore, D.L. and Stockley, T. and Taylor, S. and van Karnebeek, C. and Zawati, M.H. and Lauzon, J. and Armour, C.M.
DOI: 10.1136/jmedgenet-2015-103144
2015

Genetic Diagnosis through Whole-Exome Sequencing
New England Journal of Medicine
DOI: 10.1056/nejmc1315908
03/2014

Returning incidental findings from genetic research to children: Views of parents of children affected by rare diseases
Journal of Medical Ethics
Kleiderman, E. and Knoppers, B.M. and Fernandez, C.V. and Boycott, K.M. and Ouellette, G. and Wong-Rieger, D. and Adam, S. and Richer, J. and Avard, D.
DOI: 10.1136/medethics-2013-101648
2014

Incidental findings from clinical genome-wide sequencing: A review
Journal of Genetic Counseling
Lohn, Z. and Adam, S. and Birch, P.H. and Friedman, J.M.
DOI: 10.1007/s10897-013-9604-4
2014

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
Orphanet Journal of Rare Diseases
Demos, M.K. and Van Karnebeek, C.D.M. and Ross, C.J.D. and Adam, S. and Shen, Y. and Zhan, S.H. and Shyr, C. and Horvath, G. and Suri, M. and Fryer, A. and Jones, S.J.M. and Friedman, J.M.
DOI: 10.1186/1750-1172-9-15
2014

FORGE Canada consortium: Outcomes of a 2-year national rare-disease gene-discovery project
American Journal of Human Genetics
Beaulieu, C.L. and Majewski, J. and Schwartzentruber, J. and Samuels, M.E. and Fernandez, B.A. and Bernier, F.P. and Brudno, M. and Knoppers, B. and Marcadier, J. and Dyment, D. and Adam, S. and Bulman, D.E. and Jones, S.J.M. and Avard, D. and Nguyen, M.T. and Rousseau, F. and Marshall, C. and Wintle, R.F. and Shen, Y. and Scherer, S.W. and Friedman, J.M. and Michaud, J.L. and Boycott, K.M.
DOI: 10.1016/j.ajhg.2014.05.003
2014

Autonomy and the patient's right 'not to know' in clinical whole-genomic sequencing
European Journal of Human Genetics
Townsend, A. and Rousseau, F. and Friedman, J. and Adam, S. and Lohn, Z. and Birch, P.
DOI: 10.1038/ejhg.2013.94
2014

Paternalism and the ACMG recommendations on genomic incidental findings: Patients seen but not heard
Genetics in Medicine
Townsend, A. and Adam, S. and Birch, P.H. and Friedman, J.M.
DOI: 10.1038/gim.2013.105
2013

Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing
American Journal of Medical Genetics, Part A
Lohn, Z. and Adam, S. and Birch, P. and Townsend, A. and Friedman, J.
DOI: 10.1002/ajmg.a.35794
2013

"I want to know what's in Pandora's box": Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing
American Journal of Medical Genetics, Part A
Townsend, A. and Adam, S. and Birch, P.H. and Lohn, Z. and Rousseau, F. and Friedman, J.M.
DOI: 10.1002/ajmg.a.35554
2012

What can genomics do for health care?
British Columbia Medical Journal
Thomas, M. and Adam, S. and du Souich, C. and van Allen, M. and Boerkoel, C.F.
2009

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
BMC Genomics
Friedman, J.M. and Adam, S. and Arbour, L. and Armstrong, L. and Baross, A. and Birch, P. and Boerkoel, C. and Chan, S. and Chai, D. and Delaney, A.D. and Flibotte, S. and Gibson, W.T. and Langlois, S. and Lemyre, E. and Li, H.I. and MacLeod, P. and Mathers, J. and Michaud, J.L. and McGillivray, B.C. and Patel, M.S. and Qian, H. and Rouleau, G.A. and Van Allen, M.I. and Yong, S. and Zahir, F.R. and Eydoux, P. and Marra, M.A.
DOI: 10.1186/1471-2164-10-526
2009

Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease
Clinical Genetics
Almqvist, E.W. and Brinkman, R.R. and Wiggins, S. and Hayden, M.R. and Nicolson Klimek, M.L. and Trew, M. and Suchowersky, O. and Grover, S. and Bamforth, S. and Adam, S. and Huggins, M. and Bloch, M. and Green, T. and Greenberg, C. and Ives, E. and Fuller, A. and Welch, P. and Eisenberg, D. and Whelan, D. and Kane, J. and Soltan, H. and MacGregor, D. and Summers, A. and Meschino, W. and Prevost, C. and Dunfrasne, S. and Roy, M. and Rosenblatt, D. and Cardwell, S. and Gibson, A. and Shokeir, M.H.K.
DOI: 10.1034/j.1399-0004.2003.00157.x
2003

Risk reversals in predictive testing for Huntington disease
American Journal of Human Genetics
Almqvist, E. and Adam, S. and Bloch, M. and Fuller, A. and Welch, P. and Eisenberg, D. and Whelan, D. and Macgregor, D. and Meschino, W. and Hayden, M.R.
DOI: 10.1086/514873
1997

Dilemmas of anonymous predictive testing for Huntington disease: Privacy vs. optimal care
American Journal of Medical Genetics
Burgess, M.M. and Adam, S. and Bloch, M. and Hayden, M.R.
DOI: 10.1002/(SICI)1096-8628(19970808)71:23.0.CO;2-9
1997

Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing.
Journal of Medical Genetics
K Lawson and S Wiggins and T Green and S Adam and M Bloch and M R Hayden
DOI: 10.1136/jmg.33.10.856
10/1996

A long term (ca 5 years) prospective assessment of psychological consequences of predictive testing for Huntington disease (HD)
American journal of human genetics
Wiggins, S. and Green, T. and Adam, S. and Hayden, M.R.
1996

Adverse psychological events occurring in the first year after predictive testing for Huntington's disease
Journal of Medical Genetics
Lawson, K. and Wiggins, S. and Green, T. and Adam, S. and Bloch, M. and Hayden, M.R. and Klimek, M. and Suchowersky, O. and Grover, S. and Bamforth, S. and Shokeir, M.H.K. and Greenberg, C. and Kane, J. and Soltan, H. and Eisenberg, D. and Whelan, D. and MacGregor, D. and Summers, A. and Meschino, W. and Hunter, A. and MacLeod, P. and Dufrasne, S. and Rosenblatt, D. and Prevost, C. and Fuller, A. and Welch, P. and Ives, E.
1996

Are we all of one mind? Clinicians' and patients' opinions regarding the development of a service protocol for predictive testing for Huntington disease
American Journal of Medical Genetics
Copley, T.T. and Wiggins, S. and Dufrasne, S. and Bloch, M. and Adam, S. and McKellin, W. and Hayden, M.R. and Ives, E. and Welch, J.P. and Fuller, A. and Miller, S. and Andermann, E. and Roy, M. and McLeod, P. and Hunter, A. and Meschino, W. and Summers, A. and Whelan, D. and Eisenberg, D.
DOI: 10.1002/ajmg.1320580113
1995

Huntington disease without CAG expansion: Phenocopies or errors in assignment?
American Journal of Human Genetics
Andrew, S.E. and Paul Goldberg, Y. and Kremer, B. and Squitieri, F. and Theilmann, J. and Zeisler, J. and Telenius, H. and Adam, S. and Almquist, E. and Anvret, M. and Lucotte, G. and Jon Stoessl, A. and Campanella, G. and Hayden, M.R.
1994

Proceed with Care: Direct Predictive Testing for Huntington Disease
American Journal of Human Genetics
Benjamin, C.M. and Adam, S. and Wiggins, S. and Theilmann, J.L. and Copley, T.T. and Bloch, M. and Squitieri, F. and McKellin, W. and Cox, S. and Brown, S.A. and Kremer, H.P.H. and Burgess, M. and Meshino, W. and Summers, A. and Macgregor, D. and Buchanan, J. and Greenberg, C. and Carson, N. and Ives, E. and Frecker, M. and Welch, J.P. and Fuller, A. and Rosenblatt, D. and Miller, S. and Dufrasne, S. and Roy, M. and Andermann, E. and Prevost, C. and Khalifa, M. and Girard, K. and Taylor, S. and Hunter, A. and Goldsmith, C. and Whelan, D. and Eisenberg, D. and Soltan, H. and Kane, J. and Shokeir, M.H.K. and Gibson, A. and Cardwell, S. and Banforth, S. and Grover, S. and Suchowersky, O. and Klimek, M. and Garber, T. and Gardner, H.A. and MacLeod, P. and Hayden, M.R.
1994

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
Nature Genetics
Telenius, H. and Kremer, B. and Goldberg, Y.P. and Theilmann, J. and Andrew, S.E. and Zeisler, J. and Adam, S. and Greenberg, C. and Ives, E.J. and Clarke, L.A. and Hayden, M.R.
DOI: 10.1038/ng0494-409
1994

Erratum: Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm (Nature Genetics (1994) 6 (409-413))
Nature Genetics
Telenius, H. and Kremer, B. and Goldberg, Y.P. and Theilmann, J. and Andrew, S.E. and Zeisler, J. and Adam, S. and Greenberg, C. and Ives, E.J. and Clarke, L.A. and Hayden, M.R.
DOI: 10.1038/ng0594-113b
1994

Reply to Dr. Kessler
American Journal of Medical Genetics
Dr. Michael R Hayden and Shelin Adam and Maurice Bloch
DOI: 10.1002/ajmg.1320450608
03/1993

The psychological consequences of predictive testing for huntington’s disease
Obstetrical and Gynecological Survey
Wiggins, S. and Whyte, P. and Huggins, M. and Adam, S. and Theilmann, J. and Bloch, M. and Sheps, S.B. and Schechter, M.T. and Hayden, M.R.
DOI: 10.1097/00006254-199304000-00013
1993

Molecular analysis of new mutations for Huntington's disease: Intermediate alleles and sex of origin effects
Nature Genetics
Goldberg, Y.P. and Kremer, B. and Andrew, S.E. and Theilmann, J. and Graham, R.K. and Squitieri, F. and Telenius, H. and Adam, S. and Sajoo, A. and Starr, E. and Heiberg, A. and Wolff, G. and Hayden, M.R.
DOI: 10.1038/ng1093-174
1993

Reinveting the wheel
American Journal of Medical Genetics
Kessler, S. and Hayden, M.R. and Adam, S. and Bloch, M. and Chapman, M.A.
DOI: 10.1002/ajmg.1320450607
1993

Five year study of prenatal testing for Huntington's disease: Demand, attitudes, and psychological assessment
Journal of Medical Genetics
Adam, S. and Wiggins, S. and Whyte, P. and Bloch, M. and Shokeir, M.H.K. and Soltan, H. and Meschino, W. and Summers, A. and Suchowersky, O. and Welch, J.P. and Huggins, M. and Theilmann, J. and Hayden, M.R.
DOI: 10.1136/jmg.30.7.549
1993

Attitudes Toward Direct Predictive Testing for the Huntington Disease Gene: Relevance for Other Adult-Onset Disorders
JAMA: The Journal of the American Medical Association
Babul, R. and Adam, S. and Kremer, B. and Wiggins, S. and Huggins, M. and Theilmann, J. and Bloch, M. and Hayden, M.R. and Dufrasne, S.
DOI: 10.1001/jama.1993.03510190077030
1993

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
Nature Genetics
Andrew, S.E. and Goldberg, Y.P. and Kremer, B. and Telenius, H. and Theilmann, J. and Adam, S. and Starr, E. and Squitieri, F. and Lin, B. and Kalchman, M.A. and Graham, R.K. and Hayden, M.R.
DOI: 10.1038/ng0893-398
1993

Diagnosis of Huntington disease: A model for the stages of psychological response based on experience of a predictive testing program
American Journal of Medical Genetics
Bloch, M. and Adam, S. and Fuller, A. and Kremer, B. and Welch, J.P. and Wiggins, S. and Whyte, P. and Huggins, M. and Theilmann, J. and Hayden, M.R.
DOI: 10.1002/ajmg.1320470314
1993

Predictive testing for Huntington disease in Canada: The experience of those receiving an increased risk
American Journal of Medical Genetics
Bloch, M. and Adam, S. and Wiggins, S. and Huggins, M. and Hayden, M.R.
DOI: 10.1002/ajmg.1320420416
1992

Predictive testing for Huntington disease in Canada: Adverse effects and unexpected results in those receiving a decreased risk
American Journal of Medical Genetics
Huggins, M. and Bloch, M. and Wiggins, S. and Adam, S. and Suchowersky, O. and Trew, M. and Klimek, M. and Greenberg, C.R. and Eleff, M. and Thompson, L.P. and Knight, J. and MacLeod, P. and Girard, K. and Theilmann, J. and Hedrick, A. and Hayden, M.R.
DOI: 10.1002/ajmg.1320420417
1992

The Psychological Consequences of Predictive Testing for Huntingtons Disease
New England Journal of Medicine
Wiggins, S. and Whyte, P. and Huggins, M. and Adam, S. and Theilmann, J. and Bloch, M. and Sheps, S.B. and Schechter, M.T. and Hayden, M.R.
DOI: 10.1056/NEJM199211123272001
1992

Linkage disequilibrium and modification of risk for huntington disease
American Journal of Human Genetics
Adam, S. and Theilmann, J. and Buetow, K. and Hedrick, A. and Collins, C. and Weber, B. and Huggins, M. and Hayden, M.
1991

Ethical and legal dilemmas arising during predictive testing for adult-onset disease: The experience of Huntington Disease
American Journal of Human Genetics
1990

Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.
Journal of Medical Genetics
J Theilmann and S Kanani and R Shiang and C Robbins and O Quarrell and M Huggins and A Hedrick and B Weber and C Collins and J J Wasmuth
DOI: 10.1136/jmg.26.11.676
11/1989