All Stories

  1. Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 causes severe immune suppression and atypical osteopetrosis

    Article • Clinical Genetics, March 2017, Wiley

    Pola Smirin-Yosef

  2. X-linked elliptocytosis with impaired growth is related to mutated AMMECR1

    Article • Gene, March 2017, Elsevier

    Pola Smirin-Yosef

  3. CircosVCF: circos visualization of whole-genome sequence variations stored in VCF files

    Article • Bioinformatics, January 2017, Oxford University Press (OUP)

    Pola Smirin-Yosef

  4. A biallelic mutation in the homologous recombination repair gene SPIDR is associated with human gonadal dysgenesis

    Article • The Journal of Clinical Endocrinology & Metabolism, December 2016, Endocrine Society

    Pola Smirin-Yosef, Lisa Wiesmueller

  5. A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin

    Article • Molecular Genetics and Metabolism, January 2016, Elsevier

    Pola Smirin-Yosef

  6. Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis

    Article • Acta Dermato-Venereologica, January 2016, Acta Dermato-Venereologica

    Pola Smirin-Yosef

  7. Homozygous MED25 mutation implicated in eye–intellectual disability syndrome

    Article • Human Genetics, March 2015, Springer Science + Business Media

    Pola Smirin-Yosef

  8. Lethal neonatal rigidity and multifocal seizure syndrome – Report of another family with a BRAT1 mutation

    Article • European Journal of Paediatric Neurology, March 2015, Elsevier

    Pola Smirin-Yosef

  9. Exome Sequencing Reveals SYCE1 Mutation Associated With Autosomal Recessive Primary Ovarian Insufficiency

    Article • The Journal of Clinical Endocrinology & Metabolism, October 2014, Endocrine Society

    Pola Smirin-Yosef

  10. Insulin-sensitizing and insulin-mimetic activities of Sarcopoterium spinosum extract

    Article • Journal of Ethnopharmacology, August 2014, Elsevier

    Pola Smirin-Yosef

  11. Homozygous truncating PTPRF mutation causes athelia

    Article • Human Genetics, April 2014, Springer Science + Business Media

    Pola Smirin-Yosef

  12. Microcephaly Thin Corpus Callosum Intellectual Disability Syndrome Caused by Mutated TAF2

    Article • Pediatric Neurology, December 2013, Elsevier

    Pola Smirin-Yosef

  13. Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum

    Article • The American Journal of Human Genetics, September 2013, Elsevier

    Pola Smirin-Yosef

  14. eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation

    Article • Molecular Cell, November 2012, Elsevier

    Pola Smirin-Yosef

  15. Sarcopoterium spinosum extract as an antidiabetic agent: In vitro and in vivo study

    Article • Journal of Ethnopharmacology, May 2010, Elsevier

    Pola Smirin-Yosef