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2015 2
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Page 1
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.
Jurkute N, Brennenstuhl H, Kustermann M, Van Haute L, Mutti CD, Bugiardini E, Handa T, Shimura M, Petzold A, Acheson J, Robson AG, Macken WL, Hanna MG, Pitceathly RDS, Merve A, Kotzaeridou U, Kölker S, Freilinger M, Erdler M, Bittner RE, Mayr JA, Okazaki Y, Murayama K, Prokisch H, Webster AR, Minczuk M, Arno G, Pemp B, Hoffmann GF, Schmidt WM, Yu-Wai-Man P. Jurkute N, et al. Among authors: brennenstuhl h. Invest Ophthalmol Vis Sci. 2025 Jun 2;66(6):17. doi: 10.1167/iovs.66.6.17. Invest Ophthalmol Vis Sci. 2025. PMID: 40465263 Free PMC article.
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.
Peters B, Schlieben LD, Brennenstuhl H, Arikan C, Bedoyan SM, Bulut FD, Crushell E, Dionisi-Vici C, Drab A, Fichtner A, Garcia AG, Fry D, Garbade SF, Hammann N, Hadzic N, Hegarty R, Jørgensen MH, Laaß M, Lainka E, Leghlam L, Lurz E, Mungan HNÖ, Pietrobattista A, Polo B, Socha P, Squires JE, Sun T, Vogel GF, Prokisch H, Kölker S, Hoffmann GF, Staufner C, Lenz D. Peters B, et al. Among authors: brennenstuhl h. Liver Int. 2025 Jul;45(7):e70146. doi: 10.1111/liv.70146. Liver Int. 2025. PMID: 40433928 Free PMC article.
Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D; International Consortium on Newborn Sequencing (ICoNS); Green RC, Gold NB. Minten T, et al. Genet Med. 2025 Jul;27(7):101443. doi: 10.1016/j.gim.2025.101443. Epub 2025 May 9. Genet Med. 2025. PMID: 40357684
How do parents decide on genetic testing in pediatrics? A systematic review.
Doll ES, Lerch SP, Schmalenberger KM, Alex K, Kölker S, Brennenstuhl H, Pereira S, Smith H, Winkler EC, Mahal J, Ditzen B. Doll ES, et al. Among authors: brennenstuhl h. Genet Med. 2025 May;27(5):101390. doi: 10.1016/j.gim.2025.101390. Epub 2025 Feb 19. Genet Med. 2025. PMID: 39987491 Free article. Review.
Response to Downie et al.
Betzler IR, Hempel M, Mütze U, Kölker S, Winkler E, Dikow N, Garbade SF, Schaaf CP, Brennenstuhl H. Betzler IR, et al. Among authors: brennenstuhl h. J Inherit Metab Dis. 2025 Jan;48(1):e12837. doi: 10.1002/jimd.12837. J Inherit Metab Dis. 2025. PMID: 39810483 No abstract available.
Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?
Schnabel-Besson E, Mütze U, Dikow N, Hörster F, Morath MA, Alex K, Brennenstuhl H, Settegast S, Okun JG, Schaaf CP, Winkler EC, Kölker S. Schnabel-Besson E, et al. Among authors: brennenstuhl h. Int J Neonatal Screen. 2024 Sep 13;10(3):62. doi: 10.3390/ijns10030062. Int J Neonatal Screen. 2024. PMID: 39311364 Free PMC article. Review.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Julia-Palacios NA, Kuseyri Hübschmann O, Olivella M, Pons R, Horvath G, Lücke T, Fung CW, Wong SN, Cortès-Saladelafont E, Rovira-Remisa MM, Yıldız Y, Mercimek-Andrews S, Assmann B, Stevanović G, Manti F, Brennenstuhl H, Jung-Klawitter S, Jeltsch K, Sivri HS, Garbade SF, García-Cazorla À, Opladen T. Julia-Palacios NA, et al. Among authors: brennenstuhl h. J Inherit Metab Dis. 2024 May;47(3):447-462. doi: 10.1002/jimd.12723. Epub 2024 Mar 18. J Inherit Metab Dis. 2024. PMID: 38499966
38 results