The transcription factor FOXL2 in ovarian function and dysfunction. by Elfride De Baere, Marc Fellous, Reiner A Veitia

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Criteria for reporting incidental findings in clinical exome sequencing – a focus group study on professional practices and perspectives in Belgian genetic centres by Marlies Saelaert, Heidi Mertes, Tania Moerenhout, Elfride De Baere, Ignaas Devisch

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Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing: a qualitative study by Marlies Saelaert, Heidi Mertes, Tania Moerenhout, Elfride De Baere, Ignaas Devisch

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Mother and daughter became father and son: a case report by Tatjana Sajevets, Charlotte Verroken, Gunter Heylens, Elfride De Baere, Guy T′Sjoen

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Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases by Sofia Papadimitriou, Barbara Gravel, Charlotte Nachtegael, Elfride De Baere, Bart Loeys, Miikka Vikkula, Guillaume Smits, Tom Lenaerts

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

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Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci by Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, Genomics England Research Consortium, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfride De Baere

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Paediatric cataract surgery with 27G vitrectomy instrumentation: the Ghent University Hospital Experience by Hwei Wuen Chan, Hwei Wuen Chan, Filip Van den Broeck, Filip Van den Broeck, Axelle Cools, Sophie Walraedt, Inge Joniau, Hannah Verdin, Hannah Verdin, Irina Balikova, Stefaan Van Nuffel, Patricia Delbeke, Elfride De Baere, Elfride De Baere, Bart P. Leroy, Bart P. Leroy, Bart P. Leroy, Bart P. Leroy, Fanny Nerinckx

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Evolutionary origin of Hoxc13-dependent skin appendages in amphibians by Marjolein Carron, Attila Placido Sachslehner, Munevver Burcu Cicekdal, Inge Bruggeman, Suzan Demuynck, Bahar Golabi, Elfride De Baere, Wim Declercq, Erwin Tschachler, Kris Vleminckx, Leopold Eckhart

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Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant by Ine Strubbe, Caroline Van Cauwenbergh, Julie De Zaeytijd, Sarah De Jaegere, Marieke De Bruyne, Toon Rosseel, Stijn Van de Sompele, Elfride De Baere, Bart P. Leroy

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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. by Hannah Verdin, Barbara D'haene, Diane Beysen, Yana Novikova, Björn Menten, Tom Sante, Pablo Lapunzina, Julian Nevado, Claudia M B Carvalho, James R Lupski, Elfride De Baere

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The Role of <i>MCM9</i> in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency by Iulia Potorac, Marie Laterre, Olivier Malaise, Vlad Nechifor, Corinne Fasquelle, Orphal Colleye, Nancy Detrembleur, Hannah Verdin, Sofie Symoens, Elfride De Baere, Adrian F. Daly, Vincent Bours, Patrick Pétrossians, Axelle Pintiaux

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Functional exploration of the adult ovarian granulosa cell tumor-associated somatic FOXL2 mutation p.Cys134Trp (c.402C>G). by Bérénice A Benayoun, Sandrine Caburet, Aurélie Dipietromaria, Adrien Georges, Barbara D'Haene, P J Eswari Pandaranayaka, David L'Hôte, Anne-Laure Todeschini, Sankaran Krishnaswamy, Marc Fellous, Elfride De Baere, Reiner A Veitia

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Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families. by Caroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, Sarah De Jaegere, Helena Flipts, Julie De Zaeytijd, Sophie Walraedt, Charlotte Claes, Erik Fransen, Guy Van Camp, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Bart P Leroy, Elfride De Baere

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Endocrine outcome and seminal parameters in young adult men born with hypospadias: A cross-sectional cohort study by Lloyd J.W. Tack, Anne-Françoise Spinoit, Piet Hoebeke, Stefan Riedl, Alexander Springer, Ursula Tonnhofer, Manuela Hiess, Julia Weninger, Ahmed Mahmoud, Kelly Tilleman, Erik Van Laecke, Anders Juul, Jakob Albrethsen, Elfride De Baere, Julie Van De Velde, Hannah Verdin, Martine Cools

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The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in <i>ABHD12</i>: An Ophthalmic Perspective by Xuan-Thanh-An Nguyen, Hind Almushattat, Ine Strubbe, Michalis Georgiou, Catherina H. Z. Li, Mary J. van Schooneveld, Inge Joniau, Elfride De Baere, Ralph J. Florijn, Arthur A. Bergen, Carel B. Hoyng, Michel Michaelides, Bart P. Leroy, Camiel J. F. Boon

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Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. by Barbara D'haene, Catia Attanasio, Diane Beysen, Josée Dostie, Edmond Lemire, Philippe Bouchard, Michael Field, Kristie Jones, Birgit Lorenz, Björn Menten, Karen Buysse, Filip Pattyn, Marc Friedli, Catherine Ucla, Colette Rossier, Carine Wyss, Frank Speleman, Anne De Paepe, Job Dekker, Stylianos E Antonarakis, Elfride De Baere

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Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss by Giulia Ascari, Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Miriam Bauwens, Mattias Van Heetvelde, Mattias Van Heetvelde, Gavin Arno, Gavin Arno, Gavin Arno, Julie Jacob, David Creytens, David Creytens, Jo Van Dorpe, Jo Van Dorpe, Thalia Van Laethem, Thalia Van Laethem, Toon Rosseel, Toon Rosseel, Tim De Pooter, Tim De Pooter, Peter De Rijk, Peter De Rijk, Wouter De Coster, Wouter De Coster, Björn Menten, Björn Menten, Alfredo Dueñas Rey, Alfredo Dueñas Rey, Mojca Strazisar, Mojca Strazisar, Mette Bertelsen, Mette Bertelsen, Lisbeth Tranebjaerg, Lisbeth Tranebjaerg, Elfride De Baere, Elfride De Baere

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The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement by Graeme C. Black, Panagiotis Sergouniotis, Andrea Sodi, Bart P. Leroy, Caroline Van Cauwenbergh, Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, Gita Taurina, Marius Sukys, Lonneke Haer-Wigman, Katarzyna Nowomiejska, João Pedro Marques, Dorothée Leroux, Frans P. M. Cremers, Elfride De Baere, Hélène Dollfus, ERN-EYE study group

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Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease by Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters

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