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
|