List of works - Shelin Adam

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

scientific article published on 28 January 2014

Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing

scientific article

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

scientific article published on 8 June 2017

Autonomy and the patient's right 'not to know' in clinical whole-genomic sequencing

scientific article published on 15 May 2013

Comparing the ability of OPTION12 and OPTION5 to assess shared decision-making in genetic counselling

scientific article published on 24 March 2016

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy

scientific article published on 12 September 2017

Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater!

scientific article published on 12 September 2017

Controversy and debate on clinical genomics sequencing-paper 4: clinical genome-wide sequencing: response to Wilson, Miller, and Rousseau

scientific article published on 22 September 2017

DECIDE: a Decision Support Tool to Facilitate Parents' Choices Regarding Genome-Wide Sequencing.

scientific article published on 23 May 2016

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy

scientific article

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

scientific article

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

scientific article

Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment

scientific article

Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing

article

Incidental findings from clinical genome-wide sequencing: a review

scientific article published on 26 May 2013

Individual DNA samples and health information sold by 23andMe

article

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

scientific article published in October 1993

Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene

scientific article

Parents' Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing.

scientific article published on 7 April 2016

Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard

scientific article published on 01 September 2013

Reply to Dr. Kessler

Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases

scientific article

Risk reversals in predictive testing for Huntington disease.

scientific article

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

scientific article

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

scientific article published on 7 May 2015

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

scientific article published on 4 January 2018

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

scientific article

“I want to know what's in Pandora's box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing

scientific article published on 17 August 2012

List of works by Shelin Adam

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

Autonomy and the patient's right 'not to know' in clinical whole-genomic sequencing

Comparing the ability of OPTION12 and OPTION5 to assess shared decision-making in genetic counselling

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy

Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater!

Controversy and debate on clinical genomics sequencing-paper 4: clinical genome-wide sequencing: response to Wilson, Miller, and Rousseau

DECIDE: a Decision Support Tool to Facilitate Parents' Choices Regarding Genome-Wide Sequencing.

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment

Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing

Incidental findings from clinical genome-wide sequencing: a review

Individual DNA samples and health information sold by 23andMe

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene

Parents' Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing.

Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard

Reply to Dr. Kessler

Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases

Risk reversals in predictive testing for Huntington disease.

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

“I want to know what's in Pandora's box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing