PubRank

H Ostrer

Author PubWeight™ 71.69‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes. Am J Hum Genet 1998 5.24
2 Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 1997 4.86
3 Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998 4.34
4 Jewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes. Proc Natl Acad Sci U S A 2000 3.10
5 Shortened telomeres in clonally expanded CD28-CD8+ T cells imply a replicative history that is distinct from their CD28+CD8+ counterparts. J Immunol 1996 3.03
6 The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet 1996 2.82
7 Evidence for multiple origins of the beta E-globin gene in Southeast Asia. Proc Natl Acad Sci U S A 1982 2.24
8 Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet 1999 2.19
9 Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. Am J Med Genet 1990 2.11
10 TbetaR-I(6A) is a candidate tumor susceptibility allele. Cancer Res 1999 1.99
11 Abnormal RNA processing due to the exon mutation of beta E-globin gene. Nature 1982 1.98
12 Inverted repeats are necessary for circularization of the mouse testis Sry transcript. Gene 1995 1.56
13 Anticipating unfair uses of genetic information. Am J Hum Genet 1993 1.39
14 Acro-renal-ocular syndrome: expansion of the phenotype. Clin Dysmorphol 1998 1.38
15 Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY. Arch Intern Med 1998 1.37
16 Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination. Mech Dev 1999 1.24
17 Sry is a transcriptional activator. Mol Endocrinol 1994 1.18
18 Mutation of a conserved cysteine in the X-linked cone opsins causes color vision deficiencies by disrupting protein folding and stability. Invest Ophthalmol Vis Sci 1997 1.17
19 A study of restriction fragment length polymorphisms at the human alpha-1-antitrypsin locus. Hum Genet 1985 1.11
20 Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. Hum Genet 1997 1.04
21 Clinical review 111: familial sex reversal: a review. J Clin Endocrinol Metab 2000 1.02
22 SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development. Mech Dev 2000 0.99
23 Benefits and dangers of genetic tests. Nature 1998 0.98
24 The impact of Converso Jews on the genomes of modern Latin Americans. Hum Genet 2011 0.98
25 delta- and beta-Crystallin mRNA levels in the embryonic and posthatched chicken lens: temporal and spatial changes during development. Dev Biol 1985 0.98
26 Genetic variants in SOD2, MPO, and NQO1, and risk of ovarian cancer. Gynecol Oncol 2004 0.97
27 The genetics of mitral valve prolapse. Clin Genet 2007 0.97
28 Mendelian diseases among Roman Jews: implications for the origins of disease alleles. J Clin Endocrinol Metab 1999 0.95
29 Will the new cytogenetics replace the old cytogenetics? Clin Genet 2004 0.94
30 Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. Am J Hum Genet 1995 0.90
31 Single-copy flanking sequences in human histone gene clusters map to chromosomes 1 and 6. Genomics 1991 0.89
32 Beta-crystallin mRNAs: differential distribution in the developing chicken lens. Dev Biol 1981 0.89
33 Y chromosome mosaicism in 45,X Turner syndrome. Am J Med Genet 1989 0.88
34 Conservation of human Y chromosome sequences among male great apes: implications for the evolution of Y chromosomes. J Mol Evol 1994 0.87
35 Genetic screening by insurance carriers. JAMA 1992 0.87
36 Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis. Clin Genet 2003 0.86
37 Relationship of autoimmunity to thyroid dysfunction in children and adults with Down syndrome. Am J Med Genet Suppl 1990 0.83
38 A Y-chromosomal DNA fragment is conserved in human and chimpanzee. Mol Biol Evol 1991 0.83
39 The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects. Clin Genet 2004 0.82
40 Evolution and sequence analysis of a human Y-chromosomal DNA fragment. J Mol Evol 1991 0.82
41 Isolation of cDNA clones for rabbit red cell carbonic anhydrase and catalase: a pilot study directed at isolation of coordinately expressed genes. Ann N Y Acad Sci 1984 0.81
42 Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews. Am J Hum Genet 1999 0.79
43 Genetic counseling for prostate cancer risk. Clin Genet 2003 0.79
44 Functional comparison of the Mus musculus molossinus and Mus musculus domesticus Sry genes. Mol Endocrinol 1995 0.78
45 Robinow syndrome with developmental brain dysplasia. Am J Med Genet 1997 0.78
46 Prenatal diagnostic testing for familial dysautonomia using linked genetic markers. Prenat Diagn 1995 0.78
47 Ethical and practical implications of the human genome initiative for family medicine. Arch Fam Med 1993 0.77
48 High-level inducible expression of visual pigments in transfected cells. Biotechniques 1996 0.77
49 Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome? J Med Genet 1998 0.76
50 Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects. Clin Genet 2012 0.76
51 Equal Employment Opportunities Commission issues new interim enforcement guidance on Americans with Disabilities Act. Am J Hum Genet 1993 0.75
52 Selective protection of specific DNA sequences in the heterochromatin of C-banded human Y chromosomes. Am J Hum Genet 1988 0.75
53 Human histone gene organization. Identification of a histone gene polymorphism prevalent in a black population. Exp Cell Res 1986 0.75
54 Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11. Br J Haematol 1997 0.75
55 Localization of the human type 5, tartrate-resistant acid phosphatase gene by in situ hybridization. Genomics 1989 0.75
56 Regional evaluation of DNA diagnostic laboratories. Am J Hum Genet 1990 0.75
57 Linkage analysis of a kindred with inherited 46,XY partial gonadal dysgenesis. J Clin Endocrinol Metab 1996 0.75
58 Prostate cancer susceptibility genes on 8p21-23 in a Dutch population. Prostate Cancer Prostatic Dis 2013 0.75
59 beta-Crystallins of the adult chicken lens: relatedness of the polypeptides and their aggregates. Exp Eye Res 1980 0.75
60 Establishment of a cytogenetic service for chorionic villus samples: the split specimen approach. Prenat Diagn 1990 0.75
61 Thoughts on hemochromatosis. J Fla Med Assoc 1988 0.75
62 X-inactivation and cytogenetic studies in a family with sensorineural hearing loss and Turner syndrome. Otolaryngol Head Neck Surg 1997 0.75
63 Maternal serum alphafetoprotein screening. University Medical Center. J Fla Med Assoc 1991 0.75
64 Two chromosome aberrations in the child of a woman with systemic lupus erythematosus treated with azathioprine and prednisone. Am J Med Genet 1984 0.75