List of works - Helena Kääriäinen

Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease

scientific article published in April 2004

Challenges raised by cross-border testing of rare diseases in the European union

scientific article published on 6 July 2016

Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).

scientific article

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia

scientific article

Community genetics. Its definition 2010.

scientific article

Definitions of genetic testing in European legal documents ⬇️

scientific article published on January 26, 2012

Different clinical phenotypes in monozygotic CADASIL twins with a novel NOTCH3 mutation

scientific article published on 16 April 2009

Doctor's expertise and managing discrepant information from other sources in genetic counseling: a conversation analytic perspective

scientific article published on December 2005

Epidemiology of early-onset Parkinson's disease in Finland

scientific article

Family history and perceived risk of diabetes, cardiovascular disease, cancer, and depression

scientific article published on 25 June 2016

Genetic causal beliefs about morbidity: associations with health behaviors and health outcome beliefs about behavior changes between 1982-2002 in the Finnish population

scientific article published on 17 April 2015

Genetics in an isolated population like Finland: a different basis for genomic medicine?

scientific article

Medically assisted reproduction and ethical challenges

scientific article

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

scientific article

Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases

scientific article (publication date: November 2003)

Mutations in SEC63 cause autosomal dominant polycystic liver disease

scientific article

Perceptions of legislation relating to the sharing of genomic biobank results with donors-a survey of BBMRI-ERIC biobanks

scientific article published on 12 January 2018

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

scientific article

Points to consider in assessing and appraising predictive genetic tests

scientific article

Polycystic liver and kidney diseases

scientific article

Provision of genetic services in Europe: current practices and issues

scientific article published on December 2003

Psychosocial consequences of predictive genetic testing for Lynch syndrome and associations to surveillance behaviour in a 7-year follow-up study

scientific article published in December 2013

Rare diseases and effective treatments: are we delivering?

scientific article

Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives

scientific article published on 14 May 2008

Scope of definitions of genetic testing: evidence from a EuroGentest survey ⬇️

scientific article published on March 16, 2010

The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia

scientific article published in October 2005

The mutation spectrum in RECQL4 diseases

scientific article

What is ideal genetic counselling? A survey of current international guidelines

scientific article published on 16 January 2008

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

scientific article

List of works by Helena Kääriäinen

Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease

Challenges raised by cross-border testing of rare diseases in the European union

Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia

Community genetics. Its definition 2010.

Definitions of genetic testing in European legal documents ⬇️

Different clinical phenotypes in monozygotic CADASIL twins with a novel NOTCH3 mutation

Doctor's expertise and managing discrepant information from other sources in genetic counseling: a conversation analytic perspective

Epidemiology of early-onset Parkinson's disease in Finland

Family history and perceived risk of diabetes, cardiovascular disease, cancer, and depression

Genetic causal beliefs about morbidity: associations with health behaviors and health outcome beliefs about behavior changes between 1982-2002 in the Finnish population

Genetics in an isolated population like Finland: a different basis for genomic medicine?

Medically assisted reproduction and ethical challenges

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases

Mutations in SEC63 cause autosomal dominant polycystic liver disease

Perceptions of legislation relating to the sharing of genomic biobank results with donors-a survey of BBMRI-ERIC biobanks

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

Points to consider in assessing and appraising predictive genetic tests

Polycystic liver and kidney diseases

Provision of genetic services in Europe: current practices and issues

Psychosocial consequences of predictive genetic testing for Lynch syndrome and associations to surveillance behaviour in a 7-year follow-up study

Rare diseases and effective treatments: are we delivering?

Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives

Scope of definitions of genetic testing: evidence from a EuroGentest survey ⬇️

The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia

The mutation spectrum in RECQL4 diseases

What is ideal genetic counselling? A survey of current international guidelines

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes