Siv Fokstuen

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Hanan Hamamy, Stylianos E. Antonarakis, Luigi Luca Cavalli-Sforza et al. · Genetics in Medicine · 2011 · 333 citations · Full text

Intimate Relationship, Gender Studies, Sociology +8

Prenatal diagnostic indicators of paternal uniparental disomy 14

Logos Curtis, E. Antonelli, Yvan Vial et al. · Prenatal Diagnosis · 2006 · 93 citations

The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age

Claudia Ginsburg, Siv Fokstuen, Albert Schinzel · American Journal of Medical Genetics · 2000 · 87 citations

Fertility, Genetics, Genetic Epidemiology +24

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

Periklis Makrythanasis, Mari Nelis, Federico Santoni et al. · Human Mutation · 2014 · 85 citations

Array Cgh, Rare Diseases, Mendelian Disorder +15

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

Siv Fokstuen, Robert Lyle, Analia Muñoz et al. · Human Mutation · 2008 · 79 citations

Genetics, Genetic Epidemiology, Dna Analysis +18