Published in Am J Med Genet A on August 01, 2006
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet (2009) 1.67
A targeted population carrier screening program for severe and frequent genetic diseases in Israel. Eur J Hum Genet (2008) 1.01
A long-term follow up of premarital counseling in the Israeli Arab population. J Community Genet (2014) 0.75
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol (2013) 2.36
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet (2005) 2.04
NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet (2011) 1.56
Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1? Eur J Paediatr Neurol (2007) 1.52
Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. Am J Hum Genet (2008) 1.52
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. Dev Med Child Neurol (2010) 1.47
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet (2012) 1.36
Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet (2010) 1.29
Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. Am J Hum Genet (2010) 1.13
Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations. Am J Med Genet A (2011) 1.11
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis. Ann Neurol (2009) 1.02
A targeted population carrier screening program for severe and frequent genetic diseases in Israel. Eur J Hum Genet (2008) 1.01
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet A (2012) 1.00
The clinical spectrum of fetal Niemann-Pick type C. Am J Med Genet A (2009) 0.95
The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations. Am J Med Genet A (2010) 0.94
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. J Med Genet (2012) 0.88
A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy. Mol Vis (2012) 0.88
Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1. Mol Vis (2011) 0.87
Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene. Muscle Nerve (2010) 0.86
Expanding the clinical spectrum of SLC29A3 gene defects. Eur J Med Genet (2010) 0.85
Mushroom poisoning from species of genus Inocybe (fiber head mushroom): a case series with exact species identification. Clin Toxicol (Phila) (2009) 0.85
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. J Med Genet (2010) 0.85
Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. Eur J Hum Genet (2004) 0.83
Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews. Eur J Hum Genet (2009) 0.82
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia. Eur J Clin Invest (2012) 0.82
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance. Eur J Med Genet (2012) 0.81
A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy. Gene (2012) 0.81
Marriage patterns and reproductive decision-making in the inhabitants of a single Muslim village during a 50-year period. Hum Hered (2014) 0.80
Major depressive disorders in chronic hemodialysis patients in Nazareth: identification and assessment. Neuropsychiatr Dis Treat (2012) 0.80
Chronic recurrent multifocal osteomyelitis and deficiency of interleukin-1-receptor antagonist. Pediatr Infect Dis J (2013) 0.80
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency. Eur J Endocrinol (2010) 0.80
High incidence of profound deafness in an isolated community. Genet Test (2003) 0.79
High incidence of deafness from three frequent connexin 26 mutations in an isolated community. Genet Test (2006) 0.78
Origin and expansion of four different beta globin mutations in a single Arab village. Am J Hum Biol (2005) 0.78
Influenza vaccination coverage determinants among employees of the Nazareth Hospital in Israel. Isr Med Assoc J (2010) 0.77
Founder effect with variable age at onset in Arab families with Lafora disease and EPM2A mutation. Epilepsia (2007) 0.77
Thrombophilia and stillbirth: possible connection by intrauterine growth restriction. BJOG (2004) 0.77
Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature. Am J Med Genet C Semin Med Genet (2010) 0.77
Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome. Pediatr Cardiol (2012) 0.76
First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview. Medicine (Baltimore) (2016) 0.75
A long-term follow up of premarital counseling in the Israeli Arab population. J Community Genet (2014) 0.75
Erdheim-Chester disease (ECD): Case report, clinical and basic investigations, and review of literature. Medicine (Baltimore) (2016) 0.75
A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities. Am J Med Genet A (2009) 0.75
Hereditary hypotonia, muscle weakness, failure to thrive, and cognitive delay in a large moslem kindred. Pediatr Neurol (2006) 0.75
Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3. J Hum Genet (2006) 0.75
Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness. Am J Med Genet A (2004) 0.75
Alcohol consumption during pregnancy among women in Israel. J Popul Ther Clin Pharmacol (2011) 0.75