Esther Manor

Author PubWeight™ 21.73‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet 2010 1.65
2 Primary intraosseous squamous cell carcinoma arising in an odontogenic cyst: a clinicopathologic analysis of 116 reported cases. J Oral Pathol Med 2011 1.62
3 Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. Am J Hum Genet 2011 1.49
4 Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. Am J Hum Genet 2007 1.25
5 Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway. Am J Hum Genet 2007 1.16
6 Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. Eur J Hum Genet 2010 1.04
7 O-linked β-N-acetylglucosaminylation (O-GlcNAcylation) in primary and metastatic colorectal cancer clones and effect of N-acetyl-β-D-glucosaminidase silencing on cell phenotype and transcriptome. J Biol Chem 2012 1.04
8 Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations. Hum Mutat 2010 1.03
9 An unusual composite endometrial tumor combining papillary serous carcinoma and small cell carcinoma. Am J Surg Pathol 2004 1.01
10 Solitary angiokeratoma of the tongue. Med Oral Patol Oral Cir Bucal 2008 0.96
11 Metabolic pathways of N-methanocarbathymidine, a novel antiviral agent, in native and herpes simplex virus type 1 infected Vero cells. Antiviral Res 2002 0.90
12 Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13. Am J Med Genet A 2004 0.86
13 Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion. Ann Neurol 2002 0.83
14 Cytogenetic findings of a primary Merkel cell carcinoma. Cancer Genet Cytogenet 2006 0.81
15 Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12. Hum Genet 2010 0.81
16 McCune-Albright syndrome in a discordant monozygotic twin. Isr Med Assoc J 2009 0.79
17 Antitumor activity and metabolic activation of N-methanocarbathymidine, a novel thymidine analogue with a pseudosugar rigidly fixed in the northern conformation, in murine colon cancer cells expressing herpes simplex thymidine kinase. Mol Cancer Ther 2002 0.78
18 Cutaneous sinus tract of dental origin in children-a report of 28 new cases. Pediatr Dermatol 2012 0.78
19 Study of plasma-induced peripheral blood mononuclear cells survival using Fourier transform infrared microspectroscopy. J Biomed Opt 2013 0.78
20 Prenatal diagnosis of Down syndrome: ten year experience in the Israeli population. Am J Med Genet A 2003 0.78
21 Cystic lesions of the jaws in edentulous patients: analysis of 27 cases. Br J Oral Maxillofac Surg 2010 0.77
22 Genetics of arthrogryposis: linkage analysis approach. Clin Orthop Relat Res 2007 0.77
23 Association between prenatal exposure to metals and neonatal morbidity. J Toxicol Environ Health A 2014 0.77
24 Phosphorylation of 3'-azidothymidine in maternal and fetal peripheral blood mononuclear cells during gestation and at term. J Acquir Immune Defic Syndr 2003 0.76
25 Imatinib resistant chronic myelogenous leukemia, BCR-ABL positive by chromosome and FISH analyses but negative by PCR, in a child progressing to acute basophilic leukemia: cytogenetic follow-up. Cancer Genet Cytogenet 2006 0.75
26 Metachronous pleomorphic adenomas occurring in the parotid and a minor salivary gland with genetic changes detected by comparative genomic hybridization. J Oral Maxillofac Surg 2013 0.75
27 Chromosome aberration and environmental physical activity: Down syndrome and solar and cosmic ray activity, Israel, 1990-2000. Int J Biometeorol 2005 0.75
28 Pleomorphic adenoma occurring outside the submandibular gland: a case report of an accessory submandibular gland. J Oral Maxillofac Surg 2013 0.75
29 DiGeorge syndrome presenting as hypocalcemia in an adult woman. Isr Med Assoc J 2004 0.75