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13 results

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Page 1
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, Khan M, Sadler F, Balikova I, Van Cauwenbergh C, Rosseel T, Bauwens J, De Leeneer K, De Jaegere S, Van Laethem T, De Vries M, Carss K, Arno G, Fakin A, Webster AR, de Ravel de l'Argentière TJL, Sznajer Y, Vuylsteke M, Kohl S, Wissinger B, Cherry T, Collin RWJ, Cremers FPM, Leroy BP, De Baere E. Bauwens M, et al. Among authors: naessens s. Genet Med. 2019 Aug;21(8):1761-1771. doi: 10.1038/s41436-018-0420-y. Epub 2019 Jan 23. Genet Med. 2019. PMID: 30670881 Free PMC article.
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K, Naessens S, Van de Sompele S, Carron M, Aslanidis A, Van Cauwenbergh C, Kathrin Mayer A, Van Heetvelde M, Bauwens M, Verdin H, Coppieters F, Greenberg ME, Yang MG, Karlstetter M, Langmann T, De Preter K, Kohl S, Cherry TJ, Leroy BP; CNV Study Group; De Baere E. Van Schil K, et al. Among authors: naessens s. Genet Med. 2018 Feb;20(2):202-213. doi: 10.1038/gim.2017.97. Epub 2017 Jul 27. Genet Med. 2018. PMID: 28749477 Free PMC article.
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Sangermano R, Garanto A, Khan M, Runhart EH, Bauwens M, Bax NM, van den Born LI, Khan MI, Cornelis SS, Verheij JBGM, Pott JR, Thiadens AAHJ, Klaver CCW, Puech B, Meunier I, Naessens S, Arno G, Fakin A, Carss KJ, Raymond FL, Webster AR, Dhaenens CM, Stöhr H, Grassmann F, Weber BHF, Hoyng CB, De Baere E, Albert S, Collin RWJ, Cremers FPM. Sangermano R, et al. Among authors: naessens s. Genet Med. 2019 Aug;21(8):1751-1760. doi: 10.1038/s41436-018-0414-9. Epub 2019 Jan 15. Genet Med. 2019. PMID: 30643219 Free PMC article.
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K, Naessens S, Van de Sompele S, Carron M, Aslanidis A, Van Cauwenbergh C, Mayer AK, Van Heetvelde M, Bauwens M, Verdin H, Coppieters F, Greenberg ME, Yang MG, Karlstetter M, Langmann T, De Preter K, Kohl S, Cherry TJ, Leroy BP; CNV Study Group; De Baere E. Van Schil K, et al. Among authors: naessens s. Genet Med. 2019 Aug;21(8):1998. doi: 10.1038/s41436-018-0305-0. Genet Med. 2019. PMID: 30297699 Free PMC article.
Heart failure in Europe: Guideline-directed medical therapy use and decision making in chronic and acute, pre-existing and de novo, heart failure with reduced, mildly reduced, and preserved ejection fraction - the ESC EORP Heart Failure III Registry.
Lund LH, Crespo-Leiro MG, Laroche C, Zaliaduonyte D, Saad AM, Fonseca C, Čelutkienė J, Zdravkovic M, Bielecka-Dabrowa AM, Agostoni P, Xuereb RG, Neronova KV, Lelonek M, Cavusoglu Y, Gellen B, Abdelhamid M, Hammoudi N, Anker SD, Chioncel O, Filippatos G, Lainscak M, McDonagh TA, Mebazaa A, Piepoli M, Ruschitzka F, Seferović PM, Savarese G, Metra M, Rosano GMC, Maggioni AP; ESC EORP HF III National Leaders and Investigators. Lund LH, et al. Eur J Heart Fail. 2024 Dec;26(12):2487-2501. doi: 10.1002/ejhf.3445. Epub 2024 Sep 10. Eur J Heart Fail. 2024. PMID: 39257278 Free PMC article.
Rationale and design of the ESC Heart Failure III Registry - Implementation and discovery.
Lund LH, Crespo-Leiro MG, Laroche C, Garcia-Pinilla JM, Bennis A, Vataman EB, Polovina M, Radovanovic S, Apostolovic SR, Ašanin M, Gackowski A, Kaplon-Cieslicka A, Cabac-Pogorevici I, Anker SD, Chioncel O, Coats AJS, Filippatos G, Lainscak M, Mcdonagh T, Mebazaa A, Metra M, Piepoli M, Rosano GM, Ruschitzka F, Savarese G, Seferović PM, Iung B, Popescu BA, Maggioni AP; ESC EORP HF III National Leaders and Investigators. Lund LH, et al. Eur J Heart Fail. 2023 Dec;25(12):2316-2330. doi: 10.1002/ejhf.3087. Epub 2023 Nov 29. Eur J Heart Fail. 2023. PMID: 37990135 Free article.
Apixaban for Stroke Prevention in Subclinical Atrial Fibrillation.
Healey JS, Lopes RD, Granger CB, Alings M, Rivard L, McIntyre WF, Atar D, Birnie DH, Boriani G, Camm AJ, Conen D, Erath JW, Gold MR, Hohnloser SH, Ip J, Kautzner J, Kutyifa V, Linde C, Mabo P, Mairesse G, Benezet Mazuecos J, Cosedis Nielsen J, Philippon F, Proietti M, Sticherling C, Wong JA, Wright DJ, Zarraga IG, Coutts SB, Kaplan A, Pombo M, Ayala-Paredes F, Xu L, Simek K, Nevills S, Mian R, Connolly SJ; ARTESIA Investigators. Healey JS, et al. N Engl J Med. 2024 Jan 11;390(2):107-117. doi: 10.1056/NEJMoa2310234. Epub 2023 Nov 12. N Engl J Med. 2024. PMID: 37952132 Clinical Trial.
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