PubRank

Paul Renbaum

Author PubWeight™ 33.26‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med 2014 4.70
2 A dual role for interleukin-1 in hippocampal-dependent memory processes. Psychoneuroendocrinology 2007 1.77
3 Hemolysis and bilirubin conjugation in association with UDP-glucuronosyltransferase 1A1 promoter polymorphism. Hepatology 2002 1.49
4 Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. Am J Med Genet A 2010 1.43
5 Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. Hum Mol Genet 2005 1.15
6 Female sex bias in human embryonic stem cell lines. Stem Cells Dev 2011 0.99
7 XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. Am J Hum Genet 2011 0.98
8 Single nucleotide polymorphisms that increase expression of the guanosine triphosphatase RAC1 are associated with ulcerative colitis. Gastroenterology 2011 0.97
9 PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis. Prenat Diagn 2008 0.91
10 Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease. Reprod Biomed Online 2007 0.89
11 Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy. J Assist Reprod Genet 2009 0.89
12 Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line. Prenat Diagn 2011 0.86
13 A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. J Clin Invest 2015 0.85
14 (TA)n UGT 1A1 promoter polymorphism: a crucial factor in the pathophysiology of jaundice in G-6-PD deficient neonates. Pediatr Res 2007 0.84
15 (TA)n UDP-glucuronosyltransferase 1A1 promoter polymorphism in Nigerian neonates. Pediatr Res 2008 0.84
16 p53-dependent control of transactivation of the Pen2 promoter by presenilins. J Cell Sci 2009 0.82
17 Transcriptional regulation of the murine Presenilin-2 gene reveals similarities and differences to its human orthologue. Gene 2009 0.81
18 Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations. Hum Reprod 2009 0.81
19 Substrate profiling of human vaccinia-related kinases identifies coilin, a Cajal body nuclear protein, as a phosphorylation target with neurological implications. J Proteomics 2011 0.81
20 PGD for fragile X syndrome: ovarian function is the main determinant of success. Hum Reprod 2010 0.80
21 Heme oxygenase-1 promoter polymorphisms and neonatal jaundice. Neonatology 2014 0.79
22 Rac1 Polymorphisms and Thiopurine Efficacy in Children With Inflammatory Bowel Disease. J Pediatr Gastroenterol Nutr 2015 0.78
23 Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis. Mol Biol Int 2012 0.78
24 Parkin differently regulates presenilin-1 and presenilin-2 functions by direct control of their promoter transcription. J Mol Cell Biol 2013 0.78
25 A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia. Eur J Endocrinol 2012 0.78
26 Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations. J Clin Invest 2015 0.78
27 Testicular differentiation factor SF-1 is required for human spleen development. J Clin Invest 2014 0.77
28 Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model. Blood Cells Mol Dis 2010 0.77
29 Thiopurine S-methyltransferase (TPMT) activity is better determined by biochemical assay versus genotyping in the Jewish population. Dig Dis Sci 2014 0.77
30 Preimplantation genetic diagnosis (PGD)--prevention of the birth of children affected with endocrine diseases. J Pediatr Endocrinol Metab 2011 0.76
31 Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis. J Assist Reprod Genet 2010 0.75
32 PGD for germline mosaicism. Reprod Biomed Online 2012 0.75
33 Preimplantation genetic diagnosis for fetal neonatal alloimmune thrombocytopenia due to antihuman platelet antigen maternal antibodies. Obstet Gynecol 2012 0.75
34 A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX. Am J Med Genet A 2011 0.75
35 The CYP17A1 -34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat 2010 0.75
36 Non-invasive prenatal diagnosis using cell-free fetal DNA in maternal plasma from PGD pregnancies. Reprod Biomed Online 2009 0.75
37 Preimplantation genetic diagnosis in genomic regions with duplications and pseudogenes: long-range PCR in the single-cell assay. Hum Mutat 2013 0.75
38 Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: a change of concept required. Genet Med 2010 0.75