Publications
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Publikationen
- Mahmood S*, Beetz C*, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nürnberg G, Hassan SAA, Rana R, Nürnberg P, Huebner CA. First HPSE2 missense mutation in Urofacial Syndrome. Clinical Genetics 81:88-92 (2012). *equal contribution
- Varga RE, Mumtaz R, Jahic A, Rudenskaya GE, Sánchez-Ferrero E, Auer-Grumbach M, Hübner CA, Beetz C. MLPA-based evidence for copy number gain: pitfalls in confirmation and necessity for exclusion of false positives. Analytical Biochemistry 421:799-801 (2012).
- Khundadze K, Kollmann K, Koch N, Biskup C, Nietzsche S, Zimmer G, Hennings JC, Huebner AK, Symmank J, Jahic A, Ilina EI, Karle K, Schöls L, Kessels M, Braulke T, Qualmann B, Kurth I, Beetz C, Hübner CA. A hereditary spastic paraplegia mouse model reveals essential roles of ZFYVE26/SPASTIZIN for the endolysosomal system. PLoS Genetics 9:e1003988 (2013).
- Jahic A, Kreuz F, Zacher P, Fiedler J, Bier A, Reif S, Rieger M, Krüger S, Beetz C, Plaschke J. A novel strumpellin mutation and potential pifalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8. Journal of the Neurological Sciences 347:372-374 (2014).
- Jahic A, Khundadze M, Jaenisch N, Schüle R, Klimpe S, Klebe S, Frahm C, Kassubek J, Stevanin G, Schöls L, Brice A, Hübner CA, Beetz C. The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8. Orphanet Journal of Rare Diseases 10:147 (2015).
- Jahic A, Erichsen AK, Deufel T, Tallaksen C, Beetz C. A polymorphic Alu insertion which mediates distinct disease-associated deletions. Eur J Hum Genet doi: 10.1038/ejhg.2016.20 (2016).
- Harlalka GV, McEntagart ME, Gupta N, Skrzypiec A, Chioza B, Simpson MA, Nair A, Pereira A, Günther S, Jahic A, Modarres H, Moore-Barton H, Trembath RC, Kabra M, Baple E, Takur S, Patton MA, Beetz C, Pawlak R, Crosby AH. Novel genetic, clinical and pathomechanistic insights into TFG-associated hereditary spastic paraplegia. Hum Mutat. 2016 Aug 5. doi: 10.1002/humu.23060 (2016).
- Breen C, Mercer J, Jones SA, Jahic A, Heptinstall L, Tylee K, Newman WG, Beetz C. Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I. Hum Genome Var. 2016 Oct 6;3:16031 (2016).
- Jahic A, Hinreiner S, Emberger W, Hehr U, Zuchner S, Beetz C. Doublet-mediated recombination - a novel and potentially underestimated mechanism for the formation of recurrent pathogenic deletions. Hum Mutat. 38(3):275-278 (2017).
- Bock AS, Günther S, Mohr J, Goldberg LV, Jahic A, Klisch C, Hübner CA, Beetz C. A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3’UTR-encoded amyloidogenic element. Hum Mutat. doi: 10.1002/humu.23369 (2017).
- Jahic A*, Bock AS*, Duca F, Bonderman D, Mascherbauer J, Windhager R, Auer-Grumbach M, Beetz C. Development and validation of a TTR-specific copy number screening tool, and application to potentially relevant patient cohorts. Mol Cell Probes. 2018 pii:S0890-8508(18)30181-6 (2018). *equal contribution
- Jahic A, Günther S, Muschol N, Fossoy Stadheom B, Braaten O, Kjensli Hyldebrandt H, Kuiper GA, Tylee K, Wijburg FA, Beetz C. “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay. Mol Genet Genomic Med. 2019e615 (2019).
- Gregory A, Lotia M, Jeong SY, Fox R, Zhen D, Sanford L, Hamada J, Jahic A, Beetz C, Freed A, Kurian MA, Cullup et al. Autosomal dominant mitochondrial membrane protein-associated neurodegeneration. Mol Genet Genomic Med. 2019e736 (2019).
- Sancer G, Kind E, Plazaola-Sasieta H, Balke J, Pham T, Hasan A, Münch LO, Courgeon M, Mathejczyk TF, Wernet MF. Modality-Specific Circuits for Skylight Orientation in the Fly Visual System. Curr Biol 29(17):2812-2825.e4 (2019).
- Sancer G, Kind E, Uhlhorn J, Volkmann J, Hammacher J, Pham T, Plazaola-Sasieta H, Wernet MF.Cellular and synaptic adaptations of neural circuits processing skylight polarization in the fly. J Comp Physiol A Neuroethol Sens Neural Behav Physiol 206(2):233-246 (2020).
- Kappert K*, Jahic A*, Tauber R. Assessment of serum ferritin as a biomarker in COVID-19: bystander or participant? Insights by comparison with other infectious and non-infectious diseases. Biomarkers 2020 Jul 23;1-36 (2020). *equal contribution