PubRank

I Lerer

Author PubWeight™ 32.19‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet 1997 2.28
2 Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet 1998 1.87
3 Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet 1992 1.32
4 The Jewish Ashkenazi founder mutations in the BRCA1/BRCA2 genes are not found at an increased frequency in Ashkenazi patients with prostate cancer. Am J Hum Genet 1999 1.19
5 Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. Am J Hum Genet 1992 1.17
6 Confirmation and further regional assignment of aminoacylase 1 (acy-1) on human chromosome 3 using a simplified detection method. Ann Hum Genet 1980 1.10
7 Active genes are sensitive to deoxyribonuclease I during metaphase. Science 1982 1.04
8 Negative expansion of the myotonic dystrophy unstable sequence. Am J Hum Genet 1993 1.04
9 The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant? Hum Mutat 2000 1.03
10 Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin. Eur J Hum Genet 1998 1.01
11 Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications. Hum Mol Genet 1994 0.97
12 A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: a possible role of the Alu-polyA tail in the evolution of the deletion. Genes Chromosomes Cancer 2001 0.95
13 A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. Am J Med Genet A 2011 0.94
14 Increased level of bleomycin-induced chromosome breakage in ataxia telangiectasia skin fibroblasts. Cancer Res 1983 0.91
15 Familial café au lait spots: a variant of neurofibromatosis type 1. J Med Genet 1995 0.91
16 Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes. Am J Hum Genet 1998 0.90
17 The 8765delAG mutation in BRCA2 is common among Jews of Yemenite extraction. Am J Hum Genet 1998 0.88
18 Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences. Am J Med Genet 1996 0.87
19 Neurofibromatosis type I (NFI) in Israeli families: linkage analysis as a diagnostic tool. Am J Med Genet 1994 0.87
20 Homozygosity for Waardenburg syndrome. Am J Hum Genet 1995 0.87
21 Simultaneous formation of inv dup(15) and dup(15q) in a girl with developmental delay: origin of the abnormal chromosomes. Eur J Hum Genet 1995 0.85
22 A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant? Am J Hum Genet 1999 0.84
23 Partial trisomy 15 in a male with severe psychomotor retardation (48, XY, + 15q -, + mar(15)). Am J Med Genet 1982 0.83
24 t(15;21)(q15;q22.1) pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring. Am J Med Genet 1996 0.82
25 Cystic fibrosis mutations in Israeli Arab patients. Hum Mutat 1999 0.82
26 Placental mesenchymal dysplasia associated with transient neonatal diabetes mellitus and paternal UPD6. Placenta 2008 0.82
27 Sporadic phaeochromocytomas are rarely associated with germline mutations in the von Hippel-Lindau and RET genes. Clin Endocrinol (Oxf) 1997 0.78
28 Cystic fibrosis heterozygote screening in the Orthodox Community of Ashkenazi Jews: the Dor Yesharim approach and heterozygote frequency. Eur J Hum Genet 1996 0.78
29 "Jumping translocation" in a 17-month-old child with mixed-lineage leukemia. Cancer Genet Cytogenet 1991 0.77
30 Localization of two X-linked mental retardation (XLMR) genes to Xp: MRX37 gene at Xp22.31-p22.32 and a putative MRX gene on Xp22.11-p22.2. Am J Med Genet 1996 0.77
31 Stimulation of proliferation of human myeloid leukemia cells in culture: applications for cytogenetic analysis. Blood 1986 0.77
32 The 28-kb deletion spanning D15S63 is a polymorphic variant in the Ashkenazi Jewish population. Am J Hum Genet 2000 0.77
33 Predominant 45,X,--Y karyotype in donor cells after allogeneic BMT: cytogenetic and molecular analysis. Cancer Genet Cytogenet 1996 0.77
34 Trisomy 2: confined placental mosaicism in a fetus with intrauterine growth retardation. Prenat Diagn 1997 0.76
35 Simultaneous production of mouse endogenous virus and Rous sarcoma virus by Schmidt-Ruppin virus infected mouse cells. J Gen Virol 1978 0.75
36 Achondroplasia in diverse Jewish and Arab populations in Israel: clinical and molecular characterization. Isr Med Assoc J 2000 0.75
37 Genetic testing of breast and ovarian cancer patients: clinical characteristics and hormonal risk modifiers. Eur J Obstet Gynecol Reprod Biol 1999 0.75
38 Proceedings: Interaction of avian sarcoma viruses with mammalian cells. Isr J Med Sci 1975 0.75
39 Myotonic dystrophy: molecular analysis of Israeli patients. Biomed Pharmacother 1994 0.75
40 Genetic features of Lynch syndrome in the Israeli population. Clin Genet 2014 0.75