Published in Am J Hum Genet on February 01, 1995
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Complete multipoint sib-pair analysis of qualitative and quantitative traits. Am J Hum Genet (1995) 12.78
Markov chain Monte Carlo segregation and linkage analysis for oligogenic models. Am J Hum Genet (1997) 10.86
Detection and integration of genotyping errors in statistical genetics. Am J Hum Genet (2002) 4.89
Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc Natl Acad Sci U S A (1997) 4.89
HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res (2009) 3.86
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet (2000) 3.48
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet (2002) 2.90
Bayesian mapping of multiple quantitative trait loci from incomplete outbred offspring data. Genetics (1999) 2.81
Parametric and nonparametric multipoint linkage analysis with imprinting and two-locus-trait models: application to mite sensitization. Am J Hum Genet (2000) 2.70
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet (2002) 2.11
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet (1998) 2.00
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood (2010) 2.00
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. Am J Hum Genet (1999) 1.74
Multipoint oligogenic analysis of age-at-onset data with applications to Alzheimer disease pedigrees. Am J Hum Genet (1999) 1.72
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) J Clin Invest (2000) 1.72
Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet (2004) 1.72
Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36. Am J Hum Genet (2001) 1.71
Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology (2008) 1.65
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proc Natl Acad Sci U S A (1998) 1.52
Toward fully automated genotyping: genotyping microsatellite markers by deconvolution. Am J Hum Genet (1995) 1.52
A candidate gene for autoimmune myasthenia gravis. Neurology (2012) 1.44
Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27. Am J Hum Genet (1997) 1.43
Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. Am J Hum Genet (2003) 1.42
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Am J Hum Genet (2000) 1.41
Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. Am J Hum Genet (2000) 1.38
Linkage analysis in the next-generation sequencing era. Hum Hered (2011) 1.37
Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays. Nucleic Acids Res (2004) 1.37
Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. Am J Hum Genet (2000) 1.17
Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. Am J Hum Genet (2000) 1.15
Gametogenesis processes and multilocus gene identity by descent. Am J Hum Genet (1996) 1.15
A locus for Fanconi anemia on 16q determined by homozygosity mapping. Am J Hum Genet (1996) 1.15
A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24. Am J Hum Genet (1998) 1.15
Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data. BMC Genet (2005) 1.14
A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters. Am J Hum Genet (1998) 1.13
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43. Am J Hum Genet (1996) 1.12
Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24. Am J Hum Genet (2000) 1.10
Speeding up HMM algorithms for genetic linkage analysis via chain reductions of the state space. Bioinformatics (2009) 1.09
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet (1999) 1.08
Estimating genome-wide IBD sharing from SNP data via an efficient hidden Markov model of LD with application to gene mapping. Bioinformatics (2010) 1.07
Mapping of complex traits by single-nucleotide polymorphisms. Am J Hum Genet (1998) 1.05
Strategies for mapping heterogeneous recessive traits by allele-sharing methods. Am J Hum Genet (1997) 1.02
The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27. Am J Hum Genet (1999) 1.01
Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246. Am J Hum Genet (1996) 0.97
Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3. Am J Hum Genet (2001) 0.97
tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans. PLoS Genet (2013) 0.96
Application of genome-wide SNP data for uncovering pairwise relationships and quantitative trait loci. Genetica (2009) 0.96
Genome scans and gene expression microarrays converge to identify gene regulatory loci relevant in schizophrenia. Hum Genet (2006) 0.95
Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping. J Clin Invest (1997) 0.94
Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins. Am J Hum Genet (1995) 0.91
Likelihood formulation of parent-of-origin effects on segregation analysis, including ascertainment. Am J Hum Genet (2001) 0.91
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. J Med Genet (2012) 0.91
Integration of SNP genotyping confidence scores in IBD inference. Bioinformatics (2011) 0.90
A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25. Am J Hum Genet (1999) 0.90
Localization of the familial Mediterranean fever gene (FMF) to a 250-kb interval in non-Ashkenazi Jewish founder haplotypes. The French FMF Consortium. Am J Hum Genet (1996) 0.89
Locus heterogeneity in progressive familial intrahepatic cholestasis. J Med Genet (1996) 0.89
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy. Neurogenetics (2010) 0.89
Homozygosity mapping on a single patient: identification of homozygous regions of recent common ancestry by using population data. Hum Mutat (2011) 0.86
A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22. J Med Genet (1997) 0.85
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. J Bone Miner Metab (2011) 0.84
Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q. Am J Hum Genet (1997) 0.84
Accommodating chromosome inversions in linkage analysis. Am J Hum Genet (2006) 0.83
Evidence for asthma susceptibility genes on chromosome 11 in an African-American population. Hum Genet (2003) 0.82
Two-phase and family-based designs for next-generation sequencing studies. Front Genet (2013) 0.82
Genetic mapping of hph2, a mutation affecting amino acid transport in the mouse. Mamm Genome (1997) 0.82
Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness. Am J Hum Genet (1998) 0.81
TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. Mol Vis (2012) 0.75
2015 Curt Stern Award. Am J Hum Genet (2016) 0.75
A unified discussion on the concept of score functions used in the context of nonparametric linkage analysis. Bioinform Biol Insights (2008) 0.75
Constructing the parental linkage phase and the genetic map over distances <1 cM using pooled haploid DNA. Genetics (2005) 0.75
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3. Hum Genet (2005) 0.75
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A mapped set of DNA markers for human chromosome 17. Genomics (1988) 3.55
Strategies for characterizing highly polymorphic markers in human gene mapping. Am J Hum Genet (1992) 3.25
Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet (1994) 3.06
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet (1993) 2.44
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet (1993) 2.40
Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. N Engl J Med (1992) 1.90
Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1. Proc Natl Acad Sci U S A (1994) 1.46
Genetic linkage of Werner's syndrome to five markers on chromosome 8. Nature (1992) 1.37
Homozygosity mapping: familiarity breeds debility. Nat Genet (1993) 1.29
Refined mapping of the gene causing familial Mediterranean fever, by linkage and homozygosity studies. Am J Hum Genet (1993) 1.16
Evidence for linkage of the gene causing familial Mediterranean fever to chromosome 17q in non-Ashkenazi Jewish families: second locus or type I error? Hum Genet (1993) 1.09
Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics (2004) 125.23
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Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat Genet (2001) 11.12
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Whole-genome association study of bipolar disorder. Mol Psychiatry (2008) 6.80
Genome sequence and comparative analysis of the solvent-producing bacterium Clostridium acetobutylicum. J Bacteriol (2001) 6.46
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The plasticity of dendritic cell responses to pathogens and their components. Science (2001) 5.58
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Diverse signaling pathways activated by growth factor receptors induce broadly overlapping, rather than independent, sets of genes. Cell (1999) 4.97
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Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays. Nat Biotechnol (2000) 4.10
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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet (2008) 3.87
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Whole-genome shotgun optical mapping of Deinococcus radiodurans. Science (1999) 3.56
Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. Am J Hum Genet (2000) 3.52
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