Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa

por Naessens, Sarah, Ruysschaert, Laurien, Lefever, Steve, Coppieters, Frauke, De Baere, Elfride
Publicado 2019

Criteria for reporting incidental findings in clinical exome sequencing – a focus group study on professional practices and perspectives in Belgian genetic centres

por Saelaert, Marlies, Mertes, Heidi, Moerenhout, Tania, De Baere, Elfride, Devisch, Ignaas
Publicado 2019

Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing: a qualitative study

por Saelaert, Marlies, Mertes, Heidi, Moerenhout, Tania, De Baere, Elfride, Devisch, Ignaas
Publicado 2020

Mother and daughter became father and son: a case report

por Sajevets, Tatjana, Verroken, Charlotte, Heylens, Gunter, De Baere, Elfride, T'Sjoen, Guy
Publicado 2015

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy

por Désir, Julie, Coppieters, Frauke, Van Regemorter, Nicole, De Baere, Elfride, Abramowicz, Marc, Cordonnier, Monique
Publicado 2012

Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II

por Haghighi, Alireza, Verdin, Hannah, Haghighi-Kakhki, Hamidreza, Piri, Niloofar, Gohari, Nasrollah Saleh, De Baere, Elfride
Publicado 2012

Functional characterization of a novel non-coding mutation “Ghent +49A > G” in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome...

por Van de Sompele, Stijn, Pécheux, Lucie, Couso, Jorge, Meunier, Audrey, Sanchez, Mayka, De Baere, Elfride
Publicado 2017

A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings

por Saelaert, Marlies, Mertes, Heidi, Moerenhout, Tania, Van Cauwenbergh, Caroline, Leroy, Bart P., Devisch, Ignaas, De Baere, Elfride
Publicado 2021

Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases

por Papadimitriou, Sofia, Gravel, Barbara, Nachtegael, Charlotte, De Baere, Elfride, Loeys, Bart, Vikkula, Miikka, Smits, Guillaume, Lenaerts, Tom
Publicado 2022

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional character...

por Verdin, Hannah, Sorokina, Elena A, Meire, Françoise, Casteels, Ingele, de Ravel, Thomy, Semina, Elena V, De Baere, Elfride
Publicado 2014

Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes

por Meire, Françoise, Delpierre, Isabelle, Brachet, Cecile, Roulez, Françoise, Van Nechel, Christian, Depasse, Fanny, Christophe, Catherine, Menten, Björn, De Baere, Elfride
Publicado 2011

Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7

por Van Schil, Kristof, Karlstetter, Marcus, Aslanidis, Alexander, Dannhausen, Katharina, Azam, Maleeha, Qamar, Raheel, Leroy, Bart P., Depasse, Fanny, Langmann, Thomas, De Baere, Elfride
Publicado 2016

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

por Baetens, Dorien, Mladenov, Wilhelm, Delle Chiaie, Barbara, Menten, Björn, Desloovere, An, Iotova, Violeta, Callewaert, Bert, Van Laecke, Erik, Hoebeke, Piet, De Baere, Elfride, Cools, Martine
Publicado 2014

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

por Baetens, Dorien, Stoop, Hans, Peelman, Frank, Todeschini, Anne-Laure, Rosseel, Toon, Coppieters, Frauke, Veitia, Reiner A., Looijenga, Leendert H.J., De Baere, Elfride, Cools, Martine
Publicado 2017

Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

por Strubbe, Ine, Van Cauwenbergh, Caroline, De Zaeytijd, Julie, De Jaegere, Sarah, De Bruyne, Marieke, Rosseel, Toon, Van de Sompele, Stijn, De Baere, Elfride, Leroy, Bart P.
Publicado 2021

A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombinati...

por Strubbe, Steven, De Bruyne, Marieke, Pannicke, Ulrich, Beyls, Elien, Vandekerckhove, Bart, Leclercq, Georges, De Baere, Elfride, Bordon, Victoria, Vral, Anne, Schwarz, Klaus, Haerynck, Filomeen, Taghon, Tom
Publicado 2021

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

por Verdin, Hannah, D'haene, Barbara, Beysen, Diane, Novikova, Yana, Menten, Björn, Sante, Tom, Lapunzina, Pablo, Nevado, Julian, Carvalho, Claudia M. B., Lupski, James R., De Baere, Elfride
Publicado 2013

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

por Bauwens, Miriam, Storch, Stephan, Weisschuh, Nicole, Ceuterick‐de Groote, Chantal, De Rycke, Riet, Guillemyn, Brecht, De Jaegere, Sarah, Coppieters, Frauke, Van Coster, Rudy, Leroy, Bart P., De Baere, Elfride
Publicado 2019

Paediatric cataract surgery with 27G vitrectomy instrumentation: the Ghent University Hospital Experience

por Chan, Hwei Wuen, Van den Broeck, Filip, Cools, Axelle, Walraedt, Sophie, Joniau, Inge, Verdin, Hannah, Balikova, Irina, Van Nuffel, Stefaan, Delbeke, Patricia, De Baere, Elfride, Leroy, Bart P., Nerinckx, Fanny
Publicado 2023

arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

por Van Cauwenbergh, Caroline, Van Schil, Kristof, Cannoodt, Robrecht, Bauwens, Miriam, Van Laethem, Thalia, De Jaegere, Sarah, Steyaert, Wouter, Sante, Tom, Menten, Björn, Leroy, Bart P., Coppieters, Frauke, De Baere, Elfride
Publicado 2017