| Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
|
1
|
The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations.
|
J Am Acad Dermatol
|
2008
|
2.29
|
|
2
|
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.
|
Am J Hum Genet
|
2010
|
1.31
|
|
3
|
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
|
Hum Mol Genet
|
2012
|
1.29
|
|
4
|
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis.
|
Hum Mol Genet
|
2009
|
1.28
|
|
5
|
Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.
|
Mol Genet Metab
|
2011
|
1.20
|
|
6
|
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
|
Am J Hum Genet
|
2008
|
1.18
|
|
7
|
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
|
Am J Hum Genet
|
2010
|
1.18
|
|
8
|
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.
|
Am J Hum Genet
|
2004
|
1.13
|
|
9
|
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
|
Hum Genet
|
2003
|
0.94
|
|
10
|
Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: expanding the phenotype to include vascular anomalies.
|
Am J Med Genet A
|
2011
|
0.94
|
|
11
|
Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure.
|
PLoS One
|
2012
|
0.91
|
|
12
|
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.
|
J Hum Genet
|
2005
|
0.89
|
|
13
|
Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community.
|
Genet Med
|
2007
|
0.87
|
|
14
|
Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.
|
Mol Vis
|
2011
|
0.87
|
|
15
|
Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel.
|
Eur J Paediatr Neurol
|
2006
|
0.85
|
|
16
|
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.
|
J Clin Invest
|
2015
|
0.85
|
|
17
|
Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis.
|
Prenat Diagn
|
2004
|
0.83
|
|
18
|
Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease.
|
Mol Genet Metab
|
2005
|
0.81
|
|
19
|
A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy.
|
Am J Med Genet A
|
2004
|
0.80
|
|
20
|
Prenatal diagnosis of Down syndrome: ten year experience in the Israeli population.
|
Am J Med Genet A
|
2003
|
0.78
|
|
21
|
Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate.
|
Prenat Diagn
|
2002
|
0.75
|
|
22
|
An infant with a diagnostically challenging hepatic teratoma, hypofibrinogenemia, and adrenal neuroblastoma: case report.
|
Pediatr Dev Pathol
|
2015
|
0.75
|
|
23
|
Chromosome aberration and environmental physical activity: Down syndrome and solar and cosmic ray activity, Israel, 1990-2000.
|
Int J Biometeorol
|
2005
|
0.75
|