SLOVENIA



University Medical Centre Ljubljana, Clinical Institute of Medical Genetics
Slajmerjeva 4, SI-1000 Ljubljana
Phone: +386 15226031; Fax: +386 14320024


Team

Karin Writzl, MD PhD (Team leader)

Aleš Maver, MD, PhD (Lab Director)
 

Equipment and facilities

Outpatient clinic, Genetic testing (Whole Exome sequencing and Whole genome sequencing, Mitochondrial genome sequencing, Sanger sequencing, Southern blot, MLPA, Comparative Genomic Hybridization Array, Fluorescence in situ hybridisation, Standard karyotype)
 
 
Topics of interest

  • Research in rare diseases
  • Discover new disease-causing genes 

 
Publications

  • Writzl K, Maver A, Kovačič L, Martinez-Valero P, Contreras L, Satrustegui J, Castori M, Faivre L, Lapunzina P, van Kuilenburg ABP, Radović S, Thauvin-Robinet C, Peterlin B, Del Arco A, Hennekam RC. De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise. Am J Hum Genet. 2017; 101(5): 844-855. doi: 10.1016/j.ajhg.2017.09.017. PubMed PMID: 29100094 
  • Maver A, Lovrecic L, Volk M, Rudolf G, Writzl K, Blatnik A, Hodzic A, Borut P. Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation. Genet Med. 2016; 18(11): 1102-1110. doi: 10.1038/gim.2016.22. Erratum in: Genet Med. 2016; 18(7): 752. PubMed PMID: 27031083.
  • Bergant G, Maver A, Lovrecic L, Čuturilo G, Hodzic A, Peterlin B. Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases. Genet Med. 2018; 20(3): 303-312. doi: 10.1038/gim.2017.142. PubMed PMID: 28914264.
  • Tumienė B, Maver A, Writzl K, Hodžić A, Čuturilo G, Kuzmanić-Šamija R, Čulić V, Peterlin B. Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice. Clin Genet. 2018; 93(5): 1057-1062. doi: 10.1111/cge.13203. PubMed PMID: 29286531.
  • Likar T, Hasanhodžić M, Teran N, Maver A, Peterlin B, Writzl K. Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing  loss. PLoS One. 2018; 13(1): e0188578. doi: 10.1371/journal.pone.0188578. eCollection 2018. PubMed PMID: 29293505; PubMed Central PMCID: PMC5749682.



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