PubRank

N B Freimer

Author PubWeight™ 87.94‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutational processes of simple-sequence repeat loci in human populations. Proc Natl Acad Sci U S A 1994 11.84
2 Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat Genet 1994 10.35
3 Allele frequencies at microsatellite loci: the stepwise mutation model revisited. Genetics 1993 8.60
4 A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 1998 3.33
5 Absolute pitch: an approach for identification of genetic and nongenetic components. Am J Hum Genet 1998 3.29
6 Linkage-disequilibrium mapping of disease genes by reconstruction of ancestral haplotypes in founder populations. Am J Hum Genet 1999 3.16
7 A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998 3.09
8 Microsatellite allele frequencies in humans and chimpanzees, with implications for constraints on allele size. Mol Biol Evol 1995 2.82
9 Phenomics: the systematic study of phenotypes on a genome-wide scale. Neuroscience 2009 2.38
10 Screening a large reference sample to identify very low frequency sequence variants: comparisons between two genes. Nat Genet 2001 2.07
11 The distribution of linkage disequilibrium over anonymous genome regions. Hum Mol Genet 1995 1.76
12 Use of linkage disequilibrium approaches to map genes for bipolar disorder in the Costa Rican population. Am J Med Genet 1996 1.65
13 Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. Am J Hum Genet 2001 1.54
14 Assessing the feasibility of linkage disequilibrium methods for mapping complex traits: an initial screen for bipolar disorder loci on chromosome 18. Am J Hum Genet 1999 1.54
15 A complete genome screen for genes predisposing to severe bipolar disorder in two Costa Rican pedigrees. Proc Natl Acad Sci U S A 1996 1.46
16 Genome-wide association study of Tourette's syndrome. Mol Psychiatry 2012 1.42
17 Expanding the range of ZNF804A variants conferring risk of psychosis. Mol Psychiatry 2010 1.41
18 Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology 1997 1.41
19 The genome-wide distribution of background linkage disequilibrium in a population isolate. Hum Mol Genet 2001 1.35
20 Familial aggregation of absolute pitch. Am J Hum Genet 2000 1.20
21 Challenges in phenotype definition in the whole-genome era: multivariate models of memory and intelligence. Neuroscience 2009 1.20
22 Homoplasy for size at microsatellite loci in humans and chimpanzees. Genome Res 1996 1.13
23 Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. Hum Mol Genet 1995 1.13
24 Mapping genes for psychiatric disorders and behavioral traits. Curr Opin Genet Dev 1995 1.10
25 Deletion mapping of DNA markers to a region of chromosome 5 that cosegregates with schizophrenia. Genomics 1989 1.09
26 Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q. Am J Hum Genet 2000 1.09
27 Results of a genome-wide genetic screen for panic disorder. Am J Med Genet 1998 1.01
28 Self injurious behaviour in Tourette syndrome: correlates with impulsivity and impulse control. J Neurol Neurosurg Psychiatry 2004 0.98
29 Attitudes towards bipolar disorder and predictive genetic testing among patients and providers. J Med Genet 1996 0.98
30 The role of cell wall carbohydrates in binding of microorganisms to mouse peritoneal exudate macrophages. Acta Pathol Microbiol Scand B 1978 0.97
31 Mismatch repair detection (MRD): high-throughput scanning for DNA variations. Hum Mol Genet 2001 0.94
32 Expanding on population studies. Nat Genet 1997 0.93
33 A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis. Am J Hum Genet 2000 0.91
34 Genome-wide linkage scan of bipolar disorder in a Colombian population isolate replicates Loci on chromosomes 7p21-22, 1p31, 16p12 and 21q21-22 and identifies a novel locus on chromosome 12q. Hum Hered 2010 0.87
35 Genome screening for linkage disequilibrium in a Costa Rican sample of patients with bipolar-I disorder: a follow-up study on chromosome 18. Am J Med Genet 2001 0.86
36 A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales. Transl Psychiatry 2012 0.86
37 Linkage analysis of a complex pedigree with severe bipolar disorder, using a Markov chain Monte Carlo method. Am J Hum Genet 2001 0.85
38 Fine-scale mapping of a locus for severe bipolar mood disorder on chromosome 18p11.3 in the Costa Rican population. Proc Natl Acad Sci U S A 2001 0.85
39 Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC. Hum Genet 1999 0.84
40 Isolation and characterization of a highly polymorphic human locus (DXS455) in proximal Xq28. Genomics 1992 0.83
41 Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64. Hum Genet 1997 0.83
42 Compound microsatellite repeats: practical and theoretical features. Genome Res 1999 0.81
43 Amplification with arbitrary primers. Methods Mol Biol 1996 0.81
44 Understanding the genetic basis of mood disorders: where do we stand? Am J Hum Genet 1997 0.81
45 A narrow and highly significant linkage signal for severe bipolar disorder in the chromosome 5q33 region in Latin American pedigrees. Am J Med Genet B Neuropsychiatr Genet 2009 0.79
46 Cultural influences on diagnosis and perception of Tourette syndrome in Costa Rica. J Am Acad Child Adolesc Psychiatry 2001 0.77
47 Genome mapping by arbitrary amplification of yeast artificial chromosomes. Mamm Genome 1993 0.75
48 Mapping genes for psychiatric disorders and behavioral traits. Curr Opin Genet Dev 1998 0.75
49 Insight into bile duct differentiation takes (notched) wings. Hepatology 1998 0.75
50 Spinal muscular atrophy is not the result of mutations at the beta-hexosaminidase or GM2-activator locus. Neurology 1991 0.75