Irma Järvelä

Identification of a variant associated with adult-type hypolactasia

Nabil Enattah, Timo Sahi, Erkki Savilahti et al. · Nature Genetics · 2002 · 1K citations

Protist, Morphological Evidence, Adult-type Hypolactasia +1

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Claire S. Leblond, Jutta Heinrich, Richard Delorme et al. · PLoS Genetics · 2012 · 437 citations · Full text

Y402H Polymorphism of Complement Factor H Affects Binding Affinity to C-Reactive Protein

Matti Laine, Hanna Jarva, Sanna Seitsonen et al. · The Journal of Immunology · 2007 · 239 citations · Full text

A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27

Mari Auranen, Raija Vanhala, Teppo Varilo et al. · The American Journal of Human Genetics · 2002 · 233 citations · Full text

Neurodevelopmental Disorders, Psychiatry, Genetic Disorder +8

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Guy Froyen, Mark Corbett, Joke Vandewalle et al. · The American Journal of Human Genetics · 2008 · 216 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9