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Correction: The 2019 and 2021 International workshops on Alport syndrome.
Daga S, Ding J, Deltas C, Savige J, Lipska-Ziętkiewicz BS, Hoefele J, Flinter F, Gale DP, Aksenova M, Kai H, Perin L, Barua M, Torra R, Miner JH, Massella L, Ljubanović DG, Lennon R, Weinstock AB, Knebelmann B, Cerkauskaite A, Gear S, Gross O, Turner AN, Baldassarri M, Pinto AM, Renieri A. Daga S, et al. Among authors: hoefele j. Eur J Hum Genet. 2024 Jan;32(1):130. doi: 10.1038/s41431-023-01286-z. Eur J Hum Genet. 2024. PMID: 36690832 Free PMC article. No abstract available.
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS. Savige J, et al. Among authors: hoefele j. Eur J Hum Genet. 2024 Jan;32(1):132. doi: 10.1038/s41431-023-01288-x. Eur J Hum Genet. 2024. PMID: 36721056 Free PMC article. No abstract available.
Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.
Riedhammer KM, Siegel C, Alhaddad B, Montoya C, Kovacs-Nagy R, Wagner M, Meitinger T, Hoefele J. Riedhammer KM, et al. Among authors: hoefele j. Front Pediatr. 2017 Nov 24;5:251. doi: 10.3389/fped.2017.00251. eCollection 2017. Front Pediatr. 2017. PMID: 29226118 Free PMC article.
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