Pernille Harris

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

T. Rosenberg, G. H. Bruun, B. Andresen, 2019, Scientific Reports.

A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia

Z. Tümer, K. Grønskov, H. Jensen, 2014, Clinical genetics.

Hemochromatosis mutations C282Y and H63D in ‘cis’ phase

P. Harris, E. Spriggs, L. Best, 2001, Clinical genetics.

CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark

Z. Tümer, K. Grønskov, Daniella Bach-Holm, 2016, Journal of glaucoma.