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Page 1
Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.
Celli L, Garrelfs MR, Sakkers RJB, Elting MW, Celli M, Bökenkamp A, Smits C, Goderie T, Smit JM, Schwarte LA, Schober PR, Lubbers WD, Visser MC, Kievit AJ, van Royen BJ, Gilijamse M, Schreuder WH, Rustemeyer T, Pramana A, Hendrickx JJ, Dahele MR, Saeed P, Moll AC, Curro-Tafili KR, Ghyczy EAE, Dickhoff C, de Leeuw RA, Bonjer JH, Nieuwenhuijzen JA, Konings TC, Engelsman AF, Eeckhout AM, van den Aardweg JG, Thoral PJ, Noske DP, Dubois L, Teunissen BP, Semler O, Wekre LL, Maasalu K, Märtson A, Sangiorgi L, Versacci P, Riminucci M, Grammatico P, Zambrano A, Martini L, Castori M, Botman E, Westerheim I, Zhytnik L, Micha D, Eekhoff EMW. Celli L, et al. Among authors: goderie t. Calcif Tissue Int. 2024 Nov 13. doi: 10.1007/s00223-024-01305-1. Online ahead of print. Calcif Tissue Int. 2024. PMID: 39535563 Review.
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.
Velde HM, Vaseghi-Shanjani M, Smits JJ, Ramakrishnan G, Oostrik J, Wesdorp M, Astuti G, Yntema HG, Hoefsloot L, Lanting CP, Huynen MA, Lehman A, Turvey SE; DOOFNL Consortium; Pennings RJE, Kremer H. Velde HM, et al. Hum Genet. 2024 Nov;143(11):1379-1399. doi: 10.1007/s00439-024-02706-w. Epub 2024 Oct 16. Hum Genet. 2024. PMID: 39406892 Free PMC article.
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Colbert BM, Lanting C, Smeal M, Blanton S, Dykxhoorn DM, Tang PC, Getchell RL, Velde H, Fehrmann M, Thorpe R, Chapagain P, Elkhaligy H, Kremer H, Yntema H, Haer-Wigman L, Redfield S, Sun T, Bruijn S, Plomp A, Goderie T, van de Kamp J, Free RH, Wassink-Ruiter JK, Widdershoven J, Vanhoutte E, Rotteveel L, Kriek M, van Dooren M, Hoefsloot L, de Gier HHW; DOOFNL Consortium; Schaefer A, Kolbe D, Azaiez H, Rabie G, Aburayyan A, Kawas M, Kanaan M, Holder J, Usami SI, Chen Z, Dai P, Holt J, Nelson R, Choi BY, Shearer E, Smith RJH, Pennings R, Liu XZ. Colbert BM, et al. Among authors: goderie t. Hum Genet. 2024 May;143(5):721-734. doi: 10.1007/s00439-024-02648-3. Epub 2024 Apr 30. Hum Genet. 2024. PMID: 38691166 Free PMC article.
Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study.
Fehrmann MLA, Huinck WJ, Thijssen MEG, Haer-Wigman L, Yntema HG, Rotteveel LJC, Widdershoven JCC, Goderie T, van Dooren MF, Hoefsloot EH, van der Schroeff MP, Mylanus EAM; DOOFNL consortium; Lanting CP, Pennings RJE. Fehrmann MLA, et al. Among authors: goderie t. J Otolaryngol Head Neck Surg. 2023 Dec 15;52(1):82. doi: 10.1186/s40463-023-00680-3. J Otolaryngol Head Neck Surg. 2023. PMID: 38102706 Free PMC article.
Cohort profile: Netherlands Longitudinal Study on Hearing (NL-SH).
van Wier MF, Jansen LA, Goderie T, Stam M, Nachtegaal J, van Beek JHM, Lemke U, Anema JR, Lissenberg-Witte BI, Smits C, Kramer SE. van Wier MF, et al. Among authors: goderie t. BMJ Open. 2023 Apr 17;13(4):e070180. doi: 10.1136/bmjopen-2022-070180. BMJ Open. 2023. PMID: 37068904 Free PMC article.
25 results