| Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
|
1
|
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
|
Nat Genet
|
2006
|
2.68
|
|
2
|
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.
|
Invest Ophthalmol Vis Sci
|
2006
|
1.08
|
|
3
|
Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.
|
Hered Cancer Clin Pract
|
2012
|
1.00
|
|
4
|
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
|
Hum Mutat
|
2009
|
0.99
|
|
5
|
A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.
|
Neurogenetics
|
2002
|
0.99
|
|
6
|
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
|
Eur J Hum Genet
|
2006
|
0.98
|
|
7
|
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.
|
Eur J Hum Genet
|
2010
|
0.97
|
|
8
|
Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects.
|
BMC Med Genet
|
2004
|
0.97
|
|
9
|
Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.
|
Eur J Hum Genet
|
2002
|
0.95
|
|
10
|
Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.
|
Eur J Med Genet
|
2006
|
0.94
|
|
11
|
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.
|
Neurogenetics
|
2010
|
0.86
|
|
12
|
Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.
|
Eur J Med Genet
|
2005
|
0.83
|
|
13
|
[von Hippel-Lindau syndrome: molecular diagnosis of two Lebanese families and analysis of the genotype-phenotype correlation].
|
J Med Liban
|
2005
|
0.75
|
|
14
|
Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.
|
Eur J Med Genet
|
2010
|
0.75
|