A. Semaka

发表

The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population

S. Tishkoff, M. Hayden, N. Gerry, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

When They Hear What We Say: Ethical Challenges in Presenting Research Findings to the Huntington Disease Community

Y. Bombard, A. Semaka, S. Cox, 2011, Journal of empirical research on human research ethics : JERHRE.

De novo Huntington disease caused by 26–44 CAG repeat expansion on a low-risk haplotype

M. Hayden, O. Bruland, G. Houge, 2013, Neurology.

Genetic counselling implications for intermediate allele predictive test results for Huntington disease

A. Semaka, 2012 .

Predictive testing for Huntington disease: interpretation and significance of intermediate alleles

S. Warby, A. Semaka, S. Creighton, 2006, Clinical genetics.

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.

Brett Trost, Egor Dolzhenko, Michael A Eberle, 2019, American journal of human genetics.

Length of uninterrupted CAG repeats, independent of polyglutamine size, results in increased somatic instability and hastened age of onset in Huntington disease

Brett Trost, Michael R. Hayden, Egor Dolzhenko, 2019, bioRxiv.

CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup.

Thomas J Hudson, T. Hudson, A. Montpetit, 2009, American journal of human genetics.

Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes

M. Hayden, J. Collins, A. Krause, 2013, European Journal of Human Genetics.

High frequency of intermediate alleles on huntington disease‐associated haplotypes in British Columbia's general population

M. Hayden, J. Collins, Crystal N. Doty, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Unstable familial transmissions of Huntington disease alleles with 27–35 CAG repeats (intermediate alleles)

M. Hayden, J. Collins, A. Semaka, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Evidence‐based genetic counselling implications for Huntington disease intermediate allele predictive test results

M. Hayden, A. Semaka, 2014, Clinical genetics.

Reflections of parents of children with 22q11.2 Deletion Syndrome on the experience of receiving psychiatric genetic counseling: ‘Awareness to Act’

C. Slomp, E. Morris, A. Inglis, 2021, Journal of genetic counseling.

Conceptualizing Genetic Counseling as Psychotherapy in the Era of Genomic Medicine

J. Austin, G. Hadjipavlou, A. Semaka, 2014, Journal of Genetic Counseling.

Obsessive-Compulsive Disorder: The Process of Parental Adaptation and Implications for Genetic Counseling

S. E. Stewart, C. Shuman, S. Stewart, 2016, Journal of Genetic Counseling.

Women’s experiences of participating in a prospective, longitudinal postpartum depression study: insights for perinatal mental health researchers

J. Austin, A. Semaka, H. Andrighetti, 2017, Archives of Women's Mental Health.

Re: Autopsy‐proven Huntington's disease with 29 trinucleotide repeats

M. Hayden, S. Warby, A. Semaka, 2008, Movement disorders : official journal of the Movement Disorder Society.

Adoption and the communication of genetic risk: experiences in Huntington disease

Y. Bombard, A. Semaka, M. Hayden, 2012, Clinical genetics.

CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease

M. Hayden, J. Collins, Y. P. Goldberg, 2013, Journal of Medical Genetics.

“Grasping the Grey”: Patient Understanding and Interpretation of an Intermediate Allele Predictive Test Result for Huntington Disease

M. Hayden, L. Balneaves, A. Semaka, 2013, Journal of Genetic Counseling.

A new mutation for Huntington disease following maternal transmission of an intermediate allele.

M. Hayden, M. Losekoot, E. Bijlsma, 2015, European journal of medical genetics.

Patient perspectives on the process and outcomes of psychiatric genetic counseling: An “Empowering Encounter”

J. Austin, A. Semaka, 2019, Journal of genetic counseling.