Published in Am J Hum Genet on January 01, 1996
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N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet (2000) 2.47
Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am J Hum Genet (1998) 1.88
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A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. Am J Hum Genet (2000) 0.95
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Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism. J Neuropathol Exp Neurol (2012) 0.88
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Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Am J Hum Genet (1995) 1.66
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet (1993) 1.47
Occurrence of Andermann syndrome out of French Canada--agenesis of the corpus callosum with neuronopathy. Neuropediatrics (1993) 1.46
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. Am J Med Genet (1994) 1.35
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The Andermann syndrome: agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuronopathy. Can J Neurol Sci (1984) 1.00
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Corpus callosum agenesis and psychosis in Andermann syndrome. Arch Neurol (1991) 0.95
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Initial sequencing and analysis of the human genome. Nature (2001) 212.86
The genome sequence of Drosophila melanogaster. Science (2000) 74.32
A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature (1996) 27.61
An STS-based map of the human genome. Science (1995) 17.72
The 1993-94 Généthon human genetic linkage map. Nat Genet (1994) 17.64
Estimate of human gene number provided by genome-wide analysis using Tetraodon nigroviridis DNA sequence. Nat Genet (2000) 14.51
A gene map of the human genome. Science (1996) 14.32
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science (2009) 13.45
A physical map of 30,000 human genes. Science (1998) 12.43
A physical map of the human genome. Nature (2001) 12.39
The complete genome sequence of the lactic acid bacterium Lactococcus lactis ssp. lactis IL1403. Genome Res (2001) 8.63
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature (1996) 8.02
Genome sequence and gene compaction of the eukaryote parasite Encephalitozoon cuniculi. Nature (2001) 7.53
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature (1994) 7.30
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature (1993) 6.67
Genome sequence of the plant pathogen Ralstonia solanacearum. Nature (2002) 6.23
Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature (1996) 5.44
Mechanisms of evolution in Rickettsia conorii and R. prowazekii. Science (2001) 5.32
An interspersed repeated sequence specific for human subtelomeric regions. EMBO J (1990) 5.30
A radiation hybrid map of the human genome. Hum Mol Genet (1996) 4.75
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet (1999) 4.74
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet (1996) 4.16
Anatomic basis of amygdaloid and hippocampal volume measurement by magnetic resonance imaging. Neurology (1992) 3.87
Genomic exploration of the hemiascomycetous yeasts: 1. A set of yeast species for molecular evolution studies. FEBS Lett (2000) 3.71
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Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet (1997) 3.68
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet (1998) 3.62
Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell (1987) 3.60
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet (2001) 3.59
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet (2001) 3.50
LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia. Mol Psychiatry (2007) 3.49
A first-generation physical map of the human genome. Nature (1993) 3.40
Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology (1969) 3.27
Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature (1988) 3.27
The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem Sci (1998) 3.24
A method for constructing radiation hybrid maps of whole genomes. Nat Genet (1994) 3.19
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet (2000) 3.17
New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study. Proc Natl Acad Sci U S A (1998) 3.14
The complete genome sequence of Lactobacillus bulgaricus reveals extensive and ongoing reductive evolution. Proc Natl Acad Sci U S A (2006) 3.11
A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature (1986) 3.09
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet (1995) 3.05
A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet (1986) 3.03
A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nat Genet (1996) 2.98
Complex visual hallucinations. Clinical and neurobiological insights. Brain (1998) 2.96
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A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Science (1985) 2.88
Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet (1994) 2.83
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet (1993) 2.79
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
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet (1994) 2.71
Limitations of quantitative sensory testing when patients are biased toward a bad outcome. Neurology (1998) 2.70
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet (1997) 2.68
Neuroimaging evidence of progressive neuronal loss and dysfunction in temporal lobe epilepsy. Ann Neurol (1999) 2.67
Mesial temporal damage in temporal lobe epilepsy: a volumetric MRI study of the hippocampus, amygdala and parahippocampal region. Brain (2003) 2.57
Mutant WD-repeat protein in triple-A syndrome. Nat Genet (2000) 2.54
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet (1995) 2.52
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet (1998) 2.51
Prediction of level of serotonin 2A receptor binding by serotonin receptor 2A genetic variation in postmortem brain samples from subjects who did or did not commit suicide. Am J Psychiatry (1999) 2.45
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Neuron-specific expression of mutant superoxide dismutase 1 in transgenic mice does not lead to motor impairment. J Neurosci (2001) 2.43
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet (2000) 2.40
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature (1987) 2.32
Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33. Nat Genet (1996) 2.29
The beta2-microglobulin mRNA in human Daudi cells has a mutated initiation codon but is still inducible by interferon. EMBO J (1983) 2.28
Bilateral central macrogyria: epilepsy, pseudobulbar palsy, and mental retardation--a recognizable neuronal migration disorder. Ann Neurol (1989) 2.25
Molecular cloning and analysis of cDNA encoding a plant tryptophan decarboxylase: comparison with animal dopa decarboxylases. Proc Natl Acad Sci U S A (1989) 2.22
A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet (1994) 2.22
fMRI activation during spike and wave discharges in idiopathic generalized epilepsy. Brain (2004) 2.22
Surgical outcome in patients with epilepsy and dual pathology. Brain (1999) 2.19
Sequence and analysis of chromosome 3 of the plant Arabidopsis thaliana. Nature (2000) 2.17
Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature (1985) 2.14
The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain (1998) 2.11
Early childhood prolonged febrile convulsions, atrophy and sclerosis of mesial structures, and temporal lobe epilepsy: an MRI volumetric study. Neurology (1993) 2.07
Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain (1995) 2.06
MRI volumetric measurement of amygdala and hippocampus in temporal lobe epilepsy. Neurology (1993) 2.04
Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis. J Med Genet (2008) 2.00
Intrinsic epileptogenicity of human dysplastic cortex as suggested by corticography and surgical results. Ann Neurol (1995) 2.00
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
Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet (1994) 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
Neuroimaging findings in scleroderma en coup de sabre. Neurology (2004) 1.87
Mutations in FUS cause FALS and SALS in French and French Canadian populations. Neurology (2009) 1.87
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Cortical dysplasia: an immunocytochemical study of three patients. Neurology (1998) 1.83