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Showing results for sharon lille
Your search for Sharon Lillge retrieved no results
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. 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.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
Thrombectomy alone versus intravenous alteplase plus thrombectomy in patients with stroke: an open-label, blinded-outcome, randomised non-inferiority trial.
Fischer U, Kaesmacher J, Strbian D, Eker O, Cognard C, Plattner PS, Bütikofer L, Mordasini P, Deppeler S, Pereira VM, Albucher JF, Darcourt J, Bourcier R, Benoit G, Papagiannaki C, Ozkul-Wermester O, Sibolt G, Tiainen M, Gory B, Richard S, Liman J, Ernst MS, Boulanger M, Barbier C, Mechtouff L, Zhang L, Marnat G, Sibon I, Nikoubashman O, Reich A, Consoli A, Lapergue B, Ribo M, Tomasello A, Saleme S, Macian F, Moulin S, Pagano P, Saliou G, Carrera E, Janot K, Hernández-Pérez M, Pop R, Schiava LD, Luft AR, Piotin M, Gentric JC, Pikula A, Pfeilschifter W, Arnold M, Siddiqui AH, Froehler MT, Furlan AJ, Chapot R, Wiesmann M, Machi P, Diener HC, Kulcsar Z, Bonati LH, Bassetti CL, Mazighi M, Liebeskind DS, Saver JL, Gralla J; SWIFT DIRECT Collaborators. Fischer U, et al. Lancet. 2022 Jul 9;400(10346):104-115. doi: 10.1016/S0140-6736(22)00537-2. Lancet. 2022. PMID: 35810756 Clinical Trial.
Selinexor-Based Triplet Regimens in Patients With Multiple Myeloma Previously Treated With Anti-CD38 Monoclonal Antibodies.
Schiller GJ, Lipe BC, Bahlis NJ, Tuchman SA, Bensinger WI, Sutherland HJ, Lentzsch S, Baljevic M, White D, Kotb R, Chen CI, Rossi A, Biran N, LeBlanc R, Grosicki S, Martelli M, Gunsilius E, Špička I, Stevens DA, Facon T, Mesa MG, Zhang C, Van Domelen DR, Bentur OS, Gasparetto C. Schiller GJ, et al. Clin Lymphoma Myeloma Leuk. 2023 Sep;23(9):e286-e296.e4. doi: 10.1016/j.clml.2023.06.001. Epub 2023 Jun 5. Clin Lymphoma Myeloma Leuk. 2023. PMID: 37393120 Free article.
Pediatric asthma: An unmet need for more effective, focused treatments.
Papadopoulos NG, Čustović A, Cabana MD, Dell SD, Deschildre A, Hedlin G, Hossny E, Le Souëf P, Matricardi PM, Nieto A, Phipatanakul W, Pitrez PM, Pohunek P, Gavornikova M, Jaumont X, Price DB. Papadopoulos NG, et al. Pediatr Allergy Immunol. 2019 Feb;30(1):7-16. doi: 10.1111/pai.12990. Epub 2018 Nov 15. Pediatr Allergy Immunol. 2019. PMID: 30312503 Free PMC article. Review.
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z, Khan M, Hitti-Malin R, Mishra K, Whelan L, Cornelis SS; ABCA4-Study Group; Hoyng CB, Kämpjärvi K, Klaver CCW, Liskova P, Stöhr H, Weber BHF, Banfi S, Farrar GJ, Sharon D, Zernant J, Allikmets R, Dhaenens CM, Cremers FPM. Corradi Z, et al. HGG Adv. 2023 Oct 12;4(4):100237. doi: 10.1016/j.xhgg.2023.100237. Epub 2023 Sep 12. HGG Adv. 2023. PMID: 37705246 Free PMC 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. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Runhart EH, Khan M, Cornelis SS, Roosing S, Del Pozo-Valero M, Lamey TM, Liskova P, Roberts L, Stöhr H, Klaver CCW, Hoyng CB, Cremers FPM, Dhaenens CM; Disease Consortium Study Group. Runhart EH, et al. JAMA Ophthalmol. 2020 Oct 1;138(10):1035-1042. doi: 10.1001/jamaophthalmol.2020.2990. JAMA Ophthalmol. 2020. PMID: 32815999 Free PMC article.
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
Cornelis SS, IntHout J, Runhart EH, Grunewald O, Lin S, Corradi Z, Khan M, Hitti-Malin RJ, Whelan L, Farrar GJ, Sharon D, van den Born LI, Arno G, Simcoe M, Michaelides M, Webster AR, Roosing S, Mahroo OA, Dhaenens CM, Cremers FPM; Study Group. Cornelis SS, et al. JAMA Ophthalmol. 2024 May 1;142(5):463-471. doi: 10.1001/jamaophthalmol.2024.0660. JAMA Ophthalmol. 2024. PMID: 38602673
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
de Bruijn SE, Rodenburg K, Corominas J, Ben-Yosef T, Reurink J, Kremer H, Whelan L, Plomp AS, Berger W, Farrar GJ, Ferenc Kovács Á, Fajardy I, Hitti-Malin RJ, Weisschuh N, Weener ME, Sharon D, Pennings RJE, Haer-Wigman L, Hoyng CB, Nelen MR, Vissers LELM, van den Born LI, Gilissen C, Cremers FPM, Hoischen A, Neveling K, Roosing S. de Bruijn SE, et al. Genet Med. 2023 Mar;25(3):100345. doi: 10.1016/j.gim.2022.11.013. Epub 2022 Dec 16. Genet Med. 2023. PMID: 36524988 Free article.
15 results