Published in Am J Hum Genet on July 01, 1999
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CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet (1998) 1.58
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Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Proc Natl Acad Sci U S A (1992) 1.54
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An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet (1994) 1.53
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. Neurology (2001) 1.53
Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. Nat Genet (1998) 1.52
Marfan Database (third edition): new mutations and new routines for the software. Nucleic Acids Res (1998) 1.49
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Replication of 1q42 linkage in Finnish schizophrenia pedigrees. Mol Psychiatry (2004) 1.49
Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Hum Genet (1994) 1.47
DISC1 association, heterogeneity and interplay in schizophrenia and bipolar disorder. Mol Psychiatry (2008) 1.47
The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA. Am J Hum Genet (1996) 1.46
A haplotype within the DISC1 gene is associated with visual memory functions in families with a high density of schizophrenia. Mol Psychiatry (2005) 1.44
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology (2003) 1.43
Association between novelty seeking and the type 4 dopamine receptor gene in a large Finnish cohort sample. Am J Psychiatry (1999) 1.42
The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. Am J Hum Genet (1996) 1.41
A CAV3 microdeletion differentially affects skeletal muscle and myocardium. Neurology (2003) 1.41
Expanding the range of ZNF804A variants conferring risk of psychosis. Mol Psychiatry (2010) 1.41
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A heterogeneity-based genome search meta-analysis for autism-spectrum disorders. Mol Psychiatry (2006) 1.39
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. Hum Mol Genet (1998) 1.37
Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann Neurol (1998) 1.37
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