H. Lilleväli

Phenylalanine Hydroxylase Gene Mutation R408W Is Present on 84% of Estonian Phenylketonuria Chromosomes

A. Metspalu, K. Õunap, H. Lilleväli, 1996, European journal of human genetics : EJHG.

The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records

K. Õunap, K. Muru, T. Kahre, 2019, Molecular genetics and metabolism reports.

The incidence and characterization of phenylketonuric patients in Estonia

A. Metspalu, K. Õunap, M. Sitska, 1996, Journal of Inherited Metabolic Disease.

Development of the phenylketonuria screening programme in Estonia

A. Metspalu, K. Õunap, M. Lipping-Sitska, 1998, Journal of medical screening.

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency

Ryan L. Collins, R. Collins, N. Blau, 2020, Molecular genetics & genomic medicine.

Mutation 985A>G in the MCAD gene shows low incidence in Estonian population

A. Metspalu, K. Õunap, H. Lilleväli, 2000, Human mutation.

Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening.

K. Õunap, T. Möls, K. Reinson, 2018, JIMD reports.