| Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
|
1
|
Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function.
|
J Immunol
|
2012
|
3.86
|
|
2
|
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.
|
PLoS One
|
2012
|
1.83
|
|
3
|
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
|
Am J Hum Genet
|
2011
|
1.64
|
|
4
|
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.
|
Am J Hum Genet
|
2010
|
1.51
|
|
5
|
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.
|
Int J Pediatr Otorhinolaryngol
|
2009
|
1.17
|
|
6
|
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
|
Am J Hum Genet
|
2012
|
1.15
|
|
7
|
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
|
Am J Hum Genet
|
2010
|
1.11
|
|
8
|
Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.
|
Genet Test Mol Biomarkers
|
2010
|
1.11
|
|
9
|
SLITRK6 mutations cause myopia and deafness in humans and mice.
|
J Clin Invest
|
2013
|
0.93
|
|
10
|
Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.
|
Genet Test Mol Biomarkers
|
2014
|
0.89
|
|
11
|
High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT.
|
Pediatr Nephrol
|
2013
|
0.85
|
|
12
|
Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.
|
Fertil Steril
|
2011
|
0.81
|
|
13
|
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
|
Mol Genet Genomics
|
2015
|
0.79
|
|
14
|
HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction.
|
Nephron
|
2015
|
0.76
|