Project

De rol van abnormale genregulatie in erfelijke ontwikkelingsaandoeningen

geen abstract

Datum:1 okt 2009 → 30 sep 2024

Trefwoorden:genregulatie

Disciplines:Andere natuurwetenschappen, Andere biologische wetenschappen

Publicaties

1 - 10 van 11

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis(2023)
Auteurs: Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, et al.
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis(2023)
Auteurs: Nafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, Miriam Bauwens, Alfredo Dueñas Rey, Stephan Kaeseberg, Melanie Jaeger, Jason R. Willer, Jennifer Winter, Hanh M. Truong, et al.
Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases(2023)
Auteurs: Sofia Papadimitriou, Barbara Gravel, Charlotte Nachtegael, Elfride De Baere, Bart Loeys, Miikka Vikkula, Guillaume Smits, Tom Lenaerts
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C > A p.(Pro188Thr) in the C1QTNF5 gene(2021)
Auteurs: Julie De Zaeytijd, Frauke Coppieters, Marieke De Bruyne, Jasper Van Royen, Dimitri Roels, Rani Six, Caroline Van Cauwenbergh, Elfride De Baere, Bart Leroy
Pagina's: 521 - 532
A proteogenomic atlas of the human neural retina(2024)
Auteurs: Tabea V. Riepe, Merel Stemerdink, Renee Salz, Alfredo Dueñas Rey, Suzanne E. de Bruijn, Erica Boonen, Tomasz Z. Tomkiewicz, Michael Kwint, Jolein Gloerich, Hans J. C. T. Wessels, et al.
Compendium of clinical variant classification for 2,246 unique ABCA4 variants to clarify variant pathogenicity in Stargardt disease using a modified ACMG/AMP framework(2023)
Auteurs: Miriam Bauwens, Lonneke Haer-Wigman, Marieke De Bruyne, Madhulatha Pantrangi, Elfride De Baere, Robert B. Hufnagel, Claire-Marie Dhaenens, Frans P. M. Cremers
Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity(2022)
Auteurs: Stephanie Cornelis, Esmee H. Runhart, Miriam Bauwens, Zelia Corradi, Elfride De Baere, Susanne Roosing, Lonneke Haer-Wigman, Claire-Marie Dhaenens, Anneke T. Vulto-van Silfhout, Frans P.M. Cremers
Pagina's: 498 - 507
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci(2024)
Auteurs: Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfride De Baere
New noncoding base pair mutation at the identical locus as the original NCMD/MCDR1 in a Mexican family, suggesting a mutational hotspot(2023)
Auteurs: Kent W. Small, Stijn Van de Sompele, Jessica Avetisjan, Nitin Udar, Steven Agemy, Elfride De Baere, Fadi S. Shaya
Pagina's: 33 - 42
Paediatric cataract surgery with 27G vitrectomy instrumentation : the Ghent University Hospital experience(2023)
Auteurs: Hwei Wuen Chan, Filip Van Den Broeck, SOPHIE WALRAEDT, Hannah Verdin, Irina Balikova, Stefaan Van Nuffel, Patricia Delbeke, Elfride De Baere, Bart Leroy, Fanny Nerinckx

Project

De rol van abnormale genregulatie in erfelijke ontwikkelingsaandoeningen

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Publicaties