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Jaakko Leisti

University of Helsinki(FI)Oulu University Hospital(FI)

Publications by Year

Research Areas

Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Prenatal Screening and Diagnostics, Neurogenetic and Muscular Disorders Research, Autism Spectrum Disorder Research

Most-Cited Works

→ Identification of the familial cylindromatosis tumour-suppressor gene(2000)669 cited
→ Muscle-eye-brain disease (MEB)(1989)235 cited
→ Characterization of the full fragile X syndrome mutation in fetal gametes(1997)196 cited
→ Mutation Analysis of theMEN1Gene in Multiple Endocrine Neoplasia Type 1, Familial Acromegaly and Familial Isolated Hyperparathyroidism1(1998)160 cited
→ Muscle, Eye and Brain Disease: A New Syndrome(1977)130 cited
→ Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype(1992)117 cited

→ A lethal autosomal recessive syndrome of multiple congenital contractures(1985)

106 cited

→ Evidence of Founder Mutations in Finnish BRCA1 and BRCA2 Families(1998)101 cited

→ Chromosome aberrations in lymphocytes of nurses handling cytostatic agents.(1984)94 cited

→ Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.(1994)88 cited