Published in Hum Genet on July 01, 1990
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Genome sequence of the plant pathogen Ralstonia solanacearum. Nature (2002) 6.23
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Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature (1995) 5.91
Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature (1996) 5.44
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New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study. Proc Natl Acad Sci U S A (1998) 3.14
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Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet (1995) 3.05
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Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet (1994) 2.83
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Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet (2001) 2.72
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Structure and organization of the human survival motor neurone (SMN) gene. Genomics (1996) 2.12
Gene targeting restricted to mouse striated muscle lineage. Nucleic Acids Res (1999) 2.11
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. Hum Mol Genet (2000) 2.09
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. Arch Dermatol (1996) 2.00
A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet (1994) 2.00
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell (1995) 1.95
A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination. Cell (1987) 1.93
A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet (1994) 1.88
Undermethylation at the 5' end of the albumin gene is necessary but not sufficient for albumin production by rat hepatoma cells in culture. Cell (1982) 1.87
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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet (2005) 1.80
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet (1993) 1.79
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. Am J Hum Genet (1999) 1.78
A DNA probe detecting multiple haplotypes of the human Y chromosome. Am J Hum Genet (1986) 1.77
Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23. Nat Genet (1996) 1.76
Single-copy DNA sequences specific for the human Y chromosome. Nature (1983) 1.76
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Long-range restriction map of the terminal part of the short arm of the human X chromosome. Proc Natl Acad Sci U S A (1990) 1.75
Human XX males with Y single-copy DNA fragments. Nature (1984) 1.75
Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes. Am J Hum Genet (1993) 1.74
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. Am J Hum Genet (2000) 1.73
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Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians. Am J Hum Genet (1996) 1.68
A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Mol Genet (1994) 1.67
Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. Hum Mol Genet (1993) 1.67
Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nat Genet (1994) 1.67
A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. Neurology (2009) 1.67
Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy. J Cell Biol (2001) 1.64
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Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum Genet (1992) 1.63
Complete cDNA-derived amino acid sequence of rat brown fat uncoupling protein. J Biol Chem (1986) 1.62
Physical mapping of the human pseudo-autosomal region; comparison with genetic linkage map. EMBO J (1988) 1.60
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet (1993) 1.60
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet (1997) 1.59
Extensive sequence homologies between Y and other human chromosomes. J Mol Biol (1984) 1.58
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nat Genet (2000) 1.58
Pathogenic mechanisms in osteochondrodysplasias. J Bone Joint Surg Am (1984) 1.58
Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet (1996) 1.58
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. J Med Genet (1998) 1.57