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

…, SL Butland, H Visscher, JA Collins, A Semaka… - The American Journal of …, 2009 - cell.com
Huntington disease (HD) is an autosomal-dominant disorder that results from ≥36 CAG
repeats in the HD gene (HTT). Approximately 10% of patients inherit a chromosome that …

Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine

J Austin, A Semaka, G Hadjipavlou - Journal of genetic counseling, 2014 - Springer
Discussions about genetic contributions to medical illness have become increasingly
commonplace. Physicians and other health-care providers in all quarters of medicine, from …

[PDF][PDF] Length of uninterrupted CAG, independent of polyglutamine size, results in increased somatic instability, hastening onset of Huntington disease

…, Q Xia, K Bečanović, BI Drögemöller, A Semaka… - The American Journal of …, 2019 - cell.com
Huntington disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT) gene.
Although the length of this repeat is inversely correlated with age of onset (AOO), it does …

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

A Semaka, C Kay, C Doty, JA Collins… - Journal of Medical …, 2013 - jmg.bmj.com
Introduction New mutations for Huntington disease (HD) occur due to CAG repeat instability
of intermediate alleles (IA). IAs have between 27 and 35 CAG repeats, a range just below …

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

…, F Aminkeng, AJ Semaka… - American Journal of …, 2018 - Wiley Online Library
Huntington disease (HD) is the most common monogenic neurodegenerative disorder in
populations of European ancestry, but occurs at lower prevalence in populations of East Asian …

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

A Semaka, J Austin - Journal of genetic counseling, 2019 - Wiley Online Library
Genetic counseling (GC) for individuals with mental illness (MI) has been shown to improve
patient outcomes, such as increased empowerment and self‐efficacy. However, we do not …

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

…, C Kay, ME Ketelaar, JA Collins, A Semaka… - European Journal of …, 2013 - nature.com
Huntington disease (HD) is a neurodegenerative disorder resulting from the expansion of a
CAG trinucleotide repeat in the huntingtin (HTT) gene. Worldwide prevalence varies …

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

A Semaka, C Kay, CN Doty, JA Collins… - American Journal of …, 2013 - Wiley Online Library
Intermediate alleles (27–35 CAG, IAs) for Huntington disease (HD) usually do not confer the
disease phenotype but are prone to CAG repeat instability. Consequently, offspring are at‐…

Reflections of parents of children with 22q11. 2 deletion syndrome on the experience of receiving psychiatric genetic counseling:'Awareness to Act'

P Carrion, A Semaka, R Batallones… - Journal of Genetic …, 2022 - Wiley Online Library
Individuals with 22q11.2 deletion syndrome (22qDS) have a 25%–41% risk for a psychotic
disorder. Although early intervention for psychiatric conditions leads to the best long‐term …

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

HJ Andrighetti, A Semaka, JC Austin - Archives of women's mental health, 2017 - Springer
Barriers to recruitment for research on mental illness include participant distrust of researchers
and social stigma. Though these issues may be acutely important in perinatal mental …