Tobias B. Haack

1. KREMER, Laura S., BADER, Daniel M., MERTES, Christian, KOPAJTICH, Robert, PICHLER, Garwin, IUSO, Arcangela, HAACK, Tobias B., GRAF, Elisabeth, SCHWARZMAYR, Thomas, ADAMSKI, Jerzy, et al. Genetic diagnosis of Mendelian disorders via RNA sequencing. Nature communications. Jun. 2017, vol. 8, str. 1-11, ilustr. ISSN 2041-1723. https://www.nature.com/articles/ncomms15824.pdf, DOI: 10.1038/ncomms15824. [COBISS.SI-ID 59395331]

2. WAMBACH, Jennifer A., STETTNER, Georg M., HAACK, Tobias B., WRITZL, Karin, ŠKOFLJANEC, Andreja, MAVER, Aleš, MUNELL, Francina, OSSOWSKI, Stephan, BOSIO, Mattia, et al. Survival among children with "lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). Human mutation. 2017, no. 11, vol. 38, str. 1477-1484. ISSN 1098-1004. http://onlinelibrary.wiley.com/doi/10.1002/humu.23297/full, DOI: 10.1002/humu.23297. [COBISS.SI-ID 4070316]

3. BEYLTJENS, Tessi, BOUDIN, Eveline, REVENCU, Nicole, BOECKX, Nele, BERTRAND, Miriam, SCHÜTZ, Leon, HAACK, Tobias B., WEBER, Axel, BILIOURI, Eleni, VINKŠEL, Mateja, ZAGOŽEN KLASINC, Anja, PETERLIN, Borut, et al. Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia. Journal of Medical Genetics. 2023, vol. 60, no. 5, str. 498-504. ISSN 0022-2593. https://jmg.bmj.com/content/jmedgenet/60/5/498.full.pdf, DOI: 10.1136/jmg-2022-108739. [COBISS.SI-ID 195296003]

4. MAVER, Aleš, LOHMANN, Katja, BOROVEČKI, Fran, WOLSTENHOLME, Nicola, TAYLOR, Rachel L., SPIELMANN, Malte, HAACK, Tobias B., GERBERDING, Matthias, PETERLIN, Borut, GRAESSNER, Holm. Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network. European journal of human genetics. 2024, vol. 32, iss. 8, str. 1014–1021. ISSN 1476-5438. DiRROS - Digital repository of Slovenian research organizations, DOI: 10.1038/s41431-024-01639-2. [COBISS.SI-ID 240037379]