Margaret Sahhar

'We're more defined by what we are not than what we are': Exploring adoptees' attitudes and experiences of family health history and genetic information

TR O'Brien, J Hodgson, M Sahhar, K Pereira

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Exploring the experiences of genetic health professionals with adoptees

R Spinoso, J Hodgson, M Sahhar, K Pereira

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

"It Wasn't a Disaster or Anything": Parents' Experiences of Their Child's Uncertain Chromosomal Microarray Result

Ella J Wilkins, Alison D Archibald, Margaret A Sahhar, Susan M White

Journal article  |  2016  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Chromosomal microarray is an increasingly utilized diagnostic test, particularly in the pediatric setting. However, the clinical s..

'A short time but a lovely little short time': Bereaved parents' experiences of having a child with spinal muscular atrophy type 1

Emily J Higgs, Belinda J McClaren, Margaret AR Sahhar, Monique M Ryan, Robin Forbes

Journal article  |  2016  |  JOURNAL OF PAEDIATRICS AND CHILD HEALTH

AIM: Spinal muscular atrophy (SMA) type 1 is a relatively common, untreatable and invariably fatal neuromuscular disorder of early..

Genetic Counseling for Indigenous Australians: an Exploratory Study from the Perspective of Genetic Health Professionals

Emma Kowal, Lyndon Gallacher, Ivan Macciocca, Margaret Sahhar

Journal article  |  2015  |  JOURNAL OF GENETIC COUNSELING

Indigenous populations are thought to have particularly low levels of access to genetic health services, and cultural issues may b..

The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative study.

Lynley J Donoghue, Margaret A Sahhar, Ravi Savarirayan, Supriya Raj, Nicky M Kilpatrick, Laura E Forrest

Journal article  |  2014  |  J Community Genet

Despite being the most common congenital facial anomaly, little is understood about the genetic contribution to isolated clefts of..

High school Tay-Sachs disease carrier screening: 5 to 11-year follow-up.

Helen Curd, Sharon Lewis, Ivan Macciocca, Margaret Sahhar, Vicki Petrou, Agnes Bankier, Sari Lieberman, Ephrat Levy-Lahad, Martin B Delatycki

Journal article  |  2014  |  J Community Genet

The Melbourne high school Tay-Sachs disease (TSD) carrier screening program began in 1997. The aim of this study was to assess the..

Educating Genetic Counselors in Australia-Developing a Masters Program

Margaret Sahhar, Jan Hodgson, Samantha Wake

Journal article  |  2013  |  JOURNAL OF GENETIC COUNSELING

In 2005 a publication about genetic counseling training in Australia recommended that a 2 year Masters program be established to b..

"There's a Whole Different Way of Working with Adolescents": Interviews with Australian Genetic Counselors About their Experiences with Adolescent Clients

Cheryl Tse, Margaret Sahhar, Jane Wallace, Rony E Duncan

Journal article  |  2013  |  JOURNAL OF GENETIC COUNSELING

Adolescence is a developmental period marked by unique physical, psychological and social changes. Guidelines about working with a..

Receiving Enzyme Replacement Therapy for a Lysosomal Storage Disorder: A Preliminary Exploration of the Experiences of Young Patients and Their Families

R Freedman, M Sahhar, L Curnow, J Lee, H Peters

Journal article  |  2013  |  JOURNAL OF GENETIC COUNSELING

Medical intervention for lysosomal storage disorders becomes part of life, shaping the reality of the condition for affected indiv..