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Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?
Riedhammer KM, Simmendinger H, Tasic V, Putnik J, Abazi-Emini N, Stajic N, Berutti R, Weidenbusch M, Patzer L, Lungu A, Milosevski-Lomic G, Günthner R, Braunisch MC, Ćomić J, Hoefele J. Riedhammer KM, et al. Among authors: abazi emini n. Clin Genet. 2024 Apr;105(4):406-414. doi: 10.1111/cge.14471. Epub 2024 Jan 12. Clin Genet. 2024. PMID: 38214412
Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience.
Riedhammer KM, Ćomić J, Tasic V, Putnik J, Abazi-Emini N, Paripovic A, Stajic N, Meitinger T, Nushi-Stavileci V, Berutti R, Braunisch MC, Hoefele J. Riedhammer KM, et al. Among authors: abazi emini n. Eur J Hum Genet. 2023 Jun;31(6):674-680. doi: 10.1038/s41431-023-01331-x. Epub 2023 Mar 16. Eur J Hum Genet. 2023. PMID: 36922632 Free PMC article.
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.
Günthner R, Knipping L, Jeruschke S, Satanoskij R, Lorenz-Depiereux B, Hemmer C, Braunisch MC, Riedhammer KM, Ćomić J, Tönshoff B, Tasic V, Abazi-Emini N, Nushi-Stavileci V, Buiting K, Gjorgjievski N, Momirovska A, Patzer L, Kirschstein M, Gross O, Lungu A, Weber S, Renders L, Heemann U, Meitinger T, Büscher AK, Hoefele J. Günthner R, et al. Among authors: abazi emini n. Front Med (Lausanne). 2022 Oct 20;9:953643. doi: 10.3389/fmed.2022.953643. eCollection 2022. Front Med (Lausanne). 2022. PMID: 36341250 Free PMC article.
The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience.
Ćomić J, Riedhammer KM, Günthner R, Schaaf CW, Richthammer P, Simmendinger H, Kieffer D, Berutti R, Tasic V, Abazi-Emini N, Nushi-Stavileci V, Putnik J, Stajic N, Lungu A, Gross O, Renders L, Heemann U, Braunisch MC, Meitinger T, Hoefele J. Ćomić J, et al. Among authors: abazi emini n. Front Med (Lausanne). 2022 Aug 31;9:957733. doi: 10.3389/fmed.2022.957733. eCollection 2022. Front Med (Lausanne). 2022. PMID: 36117978 Free PMC article.