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

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

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

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

The Role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency

por Potorac, Iulia, Laterre, Marie, Malaise, Olivier, Nechifor, Vlad, Fasquelle, Corinne, Colleye, Orphal, Detrembleur, Nancy, Verdin, Hannah, Symoens, Sofie, De Baere, Elfride, Daly, Adrian F., Bours, Vincent, Pétrossians, Patrick, Pintiaux, Axelle
Publicado 2023

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

por Verdin, Hannah, Fernández-Miñán, Ana, Benito-Sanz, Sara, Janssens, Sandra, Callewaert, Bert, Waele, Kathleen De, Schepper, Jean De, François, Inge, Menten, Björn, Heath, Karen E., Gómez-Skarmeta, José Luis, Baere, Elfride De
Publicado 2015

Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1

por Coppieters, Frauke, Todeschini, Anne Laure, Fujimaki, Takuro, Baert, Annelot, De Bruyne, Marieke, Van Cauwenbergh, Caroline, Verdin, Hannah, Bauwens, Miriam, Ongenaert, Maté, Kondo, Mineo, Meire, Françoise, Murakami, Akira, Veitia, Reiner A., Leroy, Bart P., De Baere, Elfride
Publicado 2015

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

por Almoallem, Basamat, Arno, Gavin, De Zaeytijd, Julie, Verdin, Hannah, Balikova, Irina, Casteels, Ingele, de Ravel, Thomy, Hull, Sarah, Suzani, Martina, Destrée, Anne, Peng, Michelle, Williams, Denise, Ainsworth, John R., Webster, Andrew R., Leroy, Bart P., Moore, Anthony T., De Baere, Elfride
Publicado 2020

Endocrine outcome and seminal parameters in young adult men born with hypospadias: A cross-sectional cohort study

por Tack, Lloyd J.W., Spinoit, Anne-Françoise, Hoebeke, Piet, Riedl, Stefan, Springer, Alexander, Tonnhofer, Ursula, Hiess, Manuela, Weninger, Julia, Mahmoud, Ahmed, Tilleman, Kelly, Van Laecke, Erik, Juul, Anders, Albrethsen, Jakob, De Baere, Elfride, Van De Velde, Julie, Verdin, Hannah, Cools, Martine
Publicado 2022

Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders

por Schuermans, Nika, Verdin, Hannah, Ghijsels, Jody, Hellemans, Madeleine, Debackere, Elke, Bogaert, Elke, Symoens, Sofie, Naesens, Leslie, Lecomte, Elien, Crosiers, David, Bergmans, Bruno, Verhoeven, Kristof, Poppe, Bruce, Laureys, Guy, Herdewyn, Sarah, Van Langenhove, Tim, Santens, Patrick, De Bleecker, Jan L., Hemelsoet, Dimitri, Dermaut, Bart
Publicado 2023

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

por Schuermans, Nika, Hemelsoet, Dimitri, Terryn, Wim, Steyaert, Sanne, Van Coster, Rudy, Coucke, Paul J., Steyaert, Wouter, Callewaert, Bert, Bogaert, Elke, Verloo, Patrick, Vanlander, Arnaud V., Debackere, Elke, Ghijsels, Jody, LeBlanc, Pontus, Verdin, Hannah, Naesens, Leslie, Haerynck, Filomeen, Callens, Steven, Dermaut, Bart, Poppe, Bruce
Publicado 2022

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

por Van Schil, Kristof, Naessens, Sarah, Van de Sompele, Stijn, Carron, Marjolein, Aslanidis, Alexander, Van Cauwenbergh, Caroline, Kathrin Mayer, Anja, Van Heetvelde, Mattias, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke, Greenberg, Michael E, Yang, Marty G, Karlstetter, Marcus, Langmann, Thomas, De Preter, Katleen, Kohl, Susanne, Cherry, Timothy J, Leroy, Bart P, De Baere, Elfride
Publicado 2018

Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

por Van Schil, Kristof, Naessens, Sarah, Van de Sompele, Stijn, Carron, Marjolein, Aslanidis, Alexander, Van Cauwenbergh, Caroline, Mayer, Anja K., Van Heetvelde, Mattias, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke, Greenberg, Michael E., Yang, Marty G., Karlstetter, Marcus, Langmann, Thomas, De Preter, Katleen, Kohl, Susanne, Cherry, Timothy J., Leroy, Bart P., De Baere, Elfride
Publicado 2018

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

por Van de Sompele, Stijn, Smith, Claire, Karali, Marianthi, Corton, Marta, Van Schil, Kristof, Peelman, Frank, Cherry, Timothy, Rosseel, Toon, Verdin, Hannah, Derolez, Julien, Van Laethem, Thalia, Khan, Kamron N., McKibbin, Martin, Toomes, Carmel, Ali, Manir, Torella, Annalaura, Testa, Francesco, Jimenez, Belen, Simonelli, Francesca, De Zaeytijd, Julie, Van den Ende, Jenneke, Leroy, Bart P., Coppieters, Frauke, Ayuso, Carmen, Inglehearn, Chris F., Banfi, Sandro, De Baere, Elfride
Publicado 2018

Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

por Van de Sompele, Stijn, Smith, Claire, Karali, Marianthi, Corton, Marta, Van Schil, Kristof, Peelman, Frank, Cherry, Timothy, Rosseel, Toon, Verdin, Hannah, Derolez, Julien, Van Laethem, Thalia, Khan, Kamron N., McKibbin, Martin, Toomes, Carmel, Ali, Manir, Torella, Annalaura, Testa, Francesco, Jimenez, Belen, Simonelli, Francesca, De Zaeytijd, Julie, Van den Ende, Jenneke, Leroy, Bart P., Coppieters, Frauke, Ayuso, Carmen, Inglehearn, Chris F., Banfi, Sandro, De Baere, Elfride
Publicado 2019

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

por Yan, Kezhi, Rousseau, Justine, Machol, Keren, Cross, Laura A., Agre, Katherine E., Gibson, Cynthia Forster, Goverde, Anne, Engleman, Kendra L., Verdin, Hannah, De Baere, Elfride, Potocki, Lorraine, Zhou, Dihong, Cadieux-Dion, Maxime, Bellus, Gary A., Wagner, Monisa D., Hale, Rebecca J., Esber, Natacha, Riley, Alan F., Solomon, Benjamin D., Cho, Megan T., McWalter, Kirsty, Eyal, Roy, Hainlen, Meagan K., Mendelsohn, Bryce A., Porter, Hillary M., Lanpher, Brendan C., Lewis, Andrea M., Savatt, Juliann, Thiffault, Isabelle, Callewaert, Bert, Campeau, Philippe M., Yang, Xiang-Jiao
Publicado 2020

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

por McEntagart, Meriel, Williamson, Kathleen A., Rainger, Jacqueline K., Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L. Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I. Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H., Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A., Elmslie, Frances, FitzPatrick, David R.
Publicado 2016