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Page 1
Did you mean De Baere, elfriede[Author] (1 results)?
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S. Panneman DM, et al. Among authors: de baere e. Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36819107 Free PMC article.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: de baere e. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Hitti-Malin RJ, et al. Among authors: de baere e. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB 4th, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, … See abstract for full author list ➔ Quinodoz M, et al. Among authors: de baere e. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. Update in: Nat Genet. 2026 Jan;58(1):169-179. doi: 10.1038/s41588-025-02451-4. PMID: 39830270 Free PMC article. Updated. Preprint.
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.
Yan K, Rousseau J, Machol K, Cross LA, Agre KE, Gibson CF, Goverde A, Engleman KL, Verdin H, De Baere E, Potocki L, Zhou D, Cadieux-Dion M, Bellus GA, Wagner MD, Hale RJ, Esber N, Riley AF, Solomon BD, Cho MT, McWalter K, Eyal R, Hainlen MK, Mendelsohn BA, Porter HM, Lanpher BC, Lewis AM, Savatt J, Thiffault I, Callewaert B, Campeau PM, Yang XJ. Yan K, et al. Among authors: de baere e. Sci Adv. 2020 Jan 22;6(4):eaax0021. doi: 10.1126/sciadv.aax0021. eCollection 2020 Jan. Sci Adv. 2020. PMID: 32010779 Free PMC article.
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
Ceroni F, Cicekdal MB, Holt R, Sorokina E, Chassaing N, Clokie S, Naert T, Talbot LV, Muheisen S, Bax DA, Kesim Y, Kivuva EC, Vincent-Delorme C, Lienkamp SS, Plaisancié J, De Baere E, Calvas P, Vleminckx K, Semina EV, Ragge NK. Ceroni F, et al. Among authors: de baere e. Nat Commun. 2024 Oct 26;15(1):9245. doi: 10.1038/s41467-024-53553-2. Nat Commun. 2024. PMID: 39455595 Free PMC article.
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.
Kaminska K, Cancellieri F, Quinodoz M, Moye AR, Bauwens M, Lin S, Janeschitz-Kriegl L, Hayman T, Barberán-Martínez P, Schlaeger R, Van den Broeck F, Ávila Fernández A, Fernández-Caballero L, Perea-Romero I, García-García G, Salom D, Mazzola P, Zuleger T, Poths K, Haack TB, Jacob J, Vermeer S, Terbeek F, Feltgen N, Moulin AP, Koutroumanou L, Papadakis G, Browning AC, Madhusudhan S, Gränse L, Banin E, Sousa AB, Coutinho Santos L, Kuehlewein L, De Angeli P, Leroy BP, Mahroo OA, Sedgwick F, Eden J, Pfau M, Andréasson S, Scholl HPN, Ayuso C, Millán JM, Sharon D, Tsilimbaris MK, Vaclavik V, Tran HV, Ben-Yosef T, De Baere E, Webster AR, Arno G, Sergouniotis PI, Kohl S, Santos C, Rivolta C. Kaminska K, et al. Among authors: de baere e. Am J Hum Genet. 2025 Apr 3;112(4):808-828. doi: 10.1016/j.ajhg.2025.02.015. Epub 2025 Mar 12. Am J Hum Genet. 2025. PMID: 40081374 Free PMC article.
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Vulto-van Silfhout AT, Jazet IM, Yzer S, Pas J, Demirdas S, van Rossum EFC, Thiadens AAHJ, van Beek R, Haer-Wigman L, Barge-Schaapveld DQCM, Brasch-Andersen C, Frost S, Bauwens M, De Baere E, Balikova I, Van den Broeck F, Weisz-Hubshman M, Joset P, Miny P, Filges I, Kohl S, De Angeli P, Kühlewein L, Bodenbender JP, Haack T, Poths K, Fernandez-Caballero L, Corton M, Blanco Kelly F, Ayuso C, Martínez-Esteban P, Vissing J, Díaz-Manera J, Straub V, Töpf A, Lin S, Arno G, Macken WL, Spillane J, Ramachandran R, de Vrieze E, van Ham T, Roosing S, Oud MM. Vulto-van Silfhout AT, et al. Among authors: de baere e. Genet Med. 2025 Oct;27(10):101513. doi: 10.1016/j.gim.2025.101513. Epub 2025 Jun 28. Genet Med. 2025. PMID: 40590205 Free PMC article.
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barakat TS, Barboni MTS, Bauwens M, Ben-Yosef T, Bernard V, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Bremond-Gignac D, Britten-Jones AC, Bujakowska KM, Burin des Roziers C, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Chadderton N, Charbel Issa P, Coutinho-Santos L, Daiger SP, De Baere E, De Bruyne M, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fenner BJ, Fernández-Caballero L, Ferraz Sallum JM, Gana S, Garanto A, Gardner JC, Gilissen C, Gonzàlez-Duarte R, Goto K, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoefsloot LH, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB 4th, Inglehearn CF, Iwata T, Jensson BO, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Klaver CCW, Knézy K, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey … See abstract for full author list ➔ Quinodoz M, et al. Among authors: de baere e. Nat Genet. 2026 Jan;58(1):169-179. doi: 10.1038/s41588-025-02451-4. Epub 2026 Jan 9. Nat Genet. 2026. PMID: 41513982 Free PMC article.
210 results