Publications

 

Selected publications:

1.  Sequence variation in PPP1R13Lresults in a novel form of cardio-cutaneus syndrome. Falik-Zaccai TC et al. EMBO Mol Med.  2017 PDF

2.  Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy. Falik-Zaccai TC et al. J BRAIN. 2016. PDF

3.  A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. Zivony-Elboum Y. et al J Med Genet. 2012. PDF

4. A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity. Falik-Zaccai TC et al. Environ Mol Mutagen. 2012. PDF

5. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. Gunay-Aygun M. et al. Nat Genet. 2011. PDF

 

6. Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3-13.1.Genzer-Nir M. et al. Eur J Hum Genet. 2010. PDF

 

7. Prolidase deficiency: it looks like systemic lupus erythematosus but it is not. Klar A, et al. Eur J Pediatr. 2010. PDF

 

8. A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability. Falik-Zaccai TC, et al. Am J Med Genet B Neuropsychiatr Genet. 2010. PDF

 

9. Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease. Keren Z, Falik-Zaccai TC. Pediatr Endocrinol Rev. 2009. PDF

 

10. The versatile DNA nucleotide excision repair (NER) and its medical significance. Falik-Zaccai TC, Keren Z, Slor H. Pediatr Endocrinol Rev. 2009

 

11.  Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel. Reish O, et al. Genet Med. 2009. PDF

 

12.   Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene. Suriu C, et al. Clin Genet. 2008. PDF

 

13.   Population screening in a Druze community: the challenge and the reward. Falik-Zaccai TC, et al. Genet Med. 2008. PDF

 

14.  PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism. Khayat M, et al. Mol Genet Metab. 2008. PDF