E. Jaakkola

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

John F. O’Toole, Yangjian Liu, Erica E. Davis et al. · Journal of Clinical Investigation · 2010 · 118 citations · Full text

Genetics, Renal Pathology, Pathology +18

Finnish HLA studies confirm the increased risk conferred by HLA-B27 homozygosity in ankylosing spondylitis

E. Jaakkola · Annals of the Rheumatic Diseases · 2005 · 115 citations · Full text

Dominant <i>GDAP1</i> mutations cause predominantly mild CMT phenotypes

M. Zimoń, Jonathan Baets, Gian Maria Fabrizi et al. · Neurology · 2011 · 83 citations

Array CGH in molecular diagnosis of mental retardation—A study of 150 Finnish patients

Linda Siggberg, Sirpa Ala‐Mello, E. Jaakkola et al. · American Journal of Medical Genetics Part A · 2010 · 82 citations

Array Cgh, Molecular Diagnosis, Genetics +21

The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease

Johane M. Robitaille, B. Zheng, Karin Wallace et al. · British Journal of Ophthalmology · 2010 · 72 citations