1
|
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
|
Nat Genet
|
2006
|
3.97
|
2
|
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.
|
Hum Mol Genet
|
2005
|
3.76
|
3
|
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
|
Ann Neurol
|
2006
|
1.89
|
4
|
TRIB3 R84 variant is associated with impaired insulin-mediated nitric oxide production in human endothelial cells.
|
Arterioscler Thromb Vasc Biol
|
2008
|
1.79
|
5
|
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
|
Am J Hum Genet
|
2005
|
1.53
|
6
|
Calcium EXAFS establishes the Mn-Ca cluster in the oxygen-evolving complex of photosystem II.
|
Biochemistry
|
2002
|
1.47
|
7
|
Familial transposition of the great arteries caused by multiple mutations in laterality genes.
|
Heart
|
2009
|
1.16
|
8
|
Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia.
|
Hum Mutat
|
2004
|
1.14
|
9
|
Mutation screening of the DYT6/THAP1 gene in Italy.
|
Mov Disord
|
2009
|
1.11
|
10
|
ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression.
|
Haematologica
|
2011
|
1.08
|
11
|
Sgk1 activates MDM2-dependent p53 degradation and affects cell proliferation, survival, and differentiation.
|
J Mol Med (Berl)
|
2009
|
1.08
|
12
|
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
|
Am J Hum Genet
|
2010
|
1.06
|
13
|
Targeting proliferating cell nuclear antigen and its protein interactions induces apoptosis in multiple myeloma cells.
|
PLoS One
|
2013
|
0.95
|
14
|
Are MYO1C and MYO1F associated with hearing loss?
|
Biochim Biophys Acta
|
2008
|
0.95
|
15
|
Human papillomavirus-16 E7 interacts with glutathione S-transferase P1 and enhances its role in cell survival.
|
PLoS One
|
2009
|
0.89
|
16
|
The SH2B1 obesity locus is associated with myocardial infarction in diabetic patients and with NO synthase activity in endothelial cells.
|
Atherosclerosis
|
2011
|
0.86
|
17
|
Redox regulation of cyclophilin A by glutathionylation.
|
Proteomics
|
2006
|
0.83
|
18
|
Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection.
|
Am J Med Genet A
|
2009
|
0.82
|
19
|
A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up.
|
Oral Health Dent Manag
|
2014
|
0.80
|
20
|
Bile salt export pump deficiency: A de novo mutation in a child compound heterozygous for ABCB11. Laboratory investigation to study pathogenic role and transmission of two novel ABCB11 mutations.
|
Hepatol Res
|
2013
|
0.80
|
21
|
Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis.
|
Eur J Paediatr Neurol
|
2013
|
0.80
|
22
|
The human papillomavirus-16 E7 oncoprotein exerts antiapoptotic effects via its physical interaction with the actin-binding protein gelsolin.
|
Carcinogenesis
|
2013
|
0.79
|
23
|
Interaction between the Cdk2/cyclin A complex and a small molecule derived from the pRb2/p130 spacer domain: a theoretical model.
|
Cell Cycle
|
2007
|
0.78
|
24
|
A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED).
|
Gene
|
2012
|
0.77
|
25
|
Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3.
|
Dig Liver Dis
|
2011
|
0.77
|
26
|
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.
|
Muscle Nerve
|
2014
|
0.75
|
27
|
Gene symbol: FOXE1. Disease: Nonsyndromic cleft palate. Accession #Hm0535.
|
Hum Genet
|
2006
|
0.75
|
28
|
Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.
|
Int J Pediatr Otorhinolaryngol
|
2009
|
0.75
|