Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases
Hitti‐Malin, Rebekkah J., Dhaenens, Claire‐Marie, Panneman, Daan M., Corradi, Zelia, Khan, Mubeen, Hollander, Anneke I., Farrar, G. Jane, Gilissen, Christian, Hoischen, Alexander, Vorst, Maartje, Bults, Femke, Boonen, Erica G. M., Saunders, Patrick, Roosing, Susanne, Cremers, Frans P. M.
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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ROSAH syndrome mimicking chronic uveitis
Fardeau, Christine, Alafaleq, Munirah, Dhaenens, Claire‐Marie, Dollfus, Hélène, Koné‐Paut, Isabelle, Grunewald, Olivier, Morel, Jean‐Baptiste, Titah, Cherif, Saadoun, David, Lazeran, Patrice Olivier, Meunier, Isabelle
Published in Clinical genetics (01.04.2023)
Published in Clinical genetics (01.04.2023)
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Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease
Khan, Mubeen, Cornelis, Stéphanie S., Khan, Muhammad Imran, Elmelik, Duaa, Manders, Eline, Bakker, Sem, Derks, Ronny, Neveling, Kornelia, Vorst, Maartje, Gilissen, Christian, Meunier, Isabelle, Defoort, Sabine, Puech, Bernard, Devos, Aurore, Schulz, Heidi L., Stöhr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Dhaenens, Claire‐Marie, Cremers, Frans P. M.
Published in Human mutation (01.10.2019)
Published in Human mutation (01.10.2019)
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PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease
Peeters, Manon H. C. A, Khan, Mubeen, Rooijakkers, Anoek A. M. B, Mulders, Timo, Haer‐Wigman, Lonneke, Boon, Camiel J. F., Klaver, Caroline C. W., Born, L. Ingeborgh, Hoyng, Carel B., Cremers, Frans P. M., Hollander, Anneke I., Dhaenens, Claire‐Marie, Collin, Rob W. J.
Published in Human mutation (01.12.2021)
Published in Human mutation (01.12.2021)
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Journal Article
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework
Cornelis, Stéphanie S., Bauwens, Miriam, Haer-Wigman, Lonneke, De Bruyne, Marieke, Pantrangi, Madhulatha, De Baere, Elfride, Hufnagel, Robert B., Dhaenens, Claire-Marie, Cremers, Frans P. M.
Published in Human mutation (26.12.2023)
Published in Human mutation (26.12.2023)
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Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes
Meunier, Isabelle, MD, PhD, Manes, Gaël, PhD, Bocquet, Béatrice, PhD, Marquette, Virginie, PhD, Baudoin, Corinne, Puech, Bernard, MD, Defoort-Dhellemmes, Sabine, MD, Audo, Isabelle, MD, PhD, Verdet, Robert, MD, Arndt, Carl, MD, PhD, Zanlonghi, Xavier, MD, Le Meur, Guylène, MD, PhD, Dhaenens, Claire-Marie, PharmD, PhD, Hamel, Christian P., MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.12.2014)
Published in Ophthalmology (Rochester, Minn.) (01.12.2014)
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Journal Article
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease
Corradi, Zelia, Salameh, Manar, Khan, Mubeen, Héon, Elise, Mishra, Ketan, Hitti-Malin, Rebekkah J, AlSwaiti, Yahya, Aslanian, Alice, Banin, Eyal, Brooks, Brian P, Zein, Wadih M, Hufnagel, Robert B, Roosing, Susanne, Dhaenens, Claire-Marie, Sharon, Dror, Cremers, Frans P M, AlTalbishi, Alaa
Published in Investigative ophthalmology & visual science (01.04.2022)
Published in Investigative ophthalmology & visual science (01.04.2022)
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Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
Olivier, Guillaume, Corton, Marta, Intartaglia, Daniela, Verbakel, Sanne K, Sergouniotis, Panagiotis I, Le Meur, Guylène, Dhaenens, Claire-Marie, Naacke, Hélène, Avila-Fernández, Almudena, Hoyng, Carel B, Klevering, Jeroen, Bocquet, Béatrice, Roubertie, Agathe, Sénéchal, Audrey, Banfi, Sandro, Muller, Agnès, Hamel, Christian L, Black, Graeme C, Conte, Ivan, Roosing, Susanne, Zanlonghi, Xavier, Ayuso, Carmen, Meunier, Isabelle, Manes, Gaël
Published in Journal of medical genetics (01.08.2021)
Published in Journal of medical genetics (01.08.2021)
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Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function
Kaltak, Melita, Blanco-Garavito, Rocio, Molday, Laurie L, Dhaenens, Claire-Marie, Souied, Eric E, Platenburg, Gerard, Swildens, Jim, Molday, Robert S, Cremers, Frans P. M
Published in Journal of translational medicine (16.08.2023)
Published in Journal of translational medicine (16.08.2023)
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Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease
Nassisi, Marco, Mohand-Saïd, Saddek, Andrieu, Camille, Antonio, Aline, Condroyer, Christel, Méjécase, Cécile, Varin, Juliette, Wohlschlegel, Juliette, Dhaenens, Claire-Marie, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Published in International journal of molecular sciences (11.10.2019)
Published in International journal of molecular sciences (11.10.2019)
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CNGB1‐related rod‐cone dystrophy: A mutation review and update
Nassisi, Marco, Smirnov, Vasily M., Solis Hernandez, Cyntia, Mohand‐Saïd, Saddek, Condroyer, Christel, Antonio, Aline, Kühlewein, Laura, Kempf, Melanie, Kohl, Susanne, Wissinger, Bernd, Nasser, Fadi, Ragi, Sara D., Wang, Nan‐Kai, Sparrow, Janet R., Greenstein, Vivienne C., Michalakis, Stylianos, Mahroo, Omar A., Ba‐Abbad, Rola, Michaelides, Michel, Webster, Andrew R., Degli Esposti, Simona, Saffren, Brooke, Capasso, Jenina, Levin, Alex, Hauswirth, William W., Dhaenens, Claire‐Marie, Defoort‐Dhellemmes, Sabine, Tsang, Stephen H., Zrenner, Eberhart, Sahel, Jose‐Alain, Petersen‐Jones, Simon M., Zeitz, Christina, Audo, Isabelle
Published in Human mutation (01.06.2021)
Published in Human mutation (01.06.2021)
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Journal Article
CRB1 -Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms
Mairot, Kévin, Smirnov, Vasily, Bocquet, Béatrice, Labesse, Gilles, Arndt, Carl, Defoort-Dhellemmes, Sabine, Zanlonghi, Xavier, Hamroun, Dalil, Denis, Danièle, Picot, Marie-Christine, David, Thierry, Grunewald, Olivier, Pégart, Mako, Huguet, Hélèna, Roux, Anne-Françoise, Kalatzis, Vasiliki, Dhaenens, Claire-Marie, Meunier, Isabelle
Published in International journal of molecular sciences (23.11.2021)
Published in International journal of molecular sciences (23.11.2021)
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The MAPT gene is differentially methylated in the progressive supranuclear palsy brain
Huin, Vincent, Deramecourt, Vincent, Caparros-Lefebvre, Dominique, Maurage, Claude-Alain, Duyckaerts, Charles, Kovari, Eniko, Pasquier, Florence, Buée-Scherrer, Valérie, Labreuche, Julien, Behal, Hélène, Buée, Luc, Dhaenens, Claire-Marie, Sablonnière, Bernard
Published in Movement disorders (01.12.2016)
Published in Movement disorders (01.12.2016)
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Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy
Smirnov, Vasily, Grunewald, Olivier, Muller, Jean, Zeitz, Christina, Obermaier, Carolin D., Devos, Aurore, Pelletier, Valérie, Bocquet, Béatrice, Andrieu, Camille, Bacquet, Jean-Louis, Lebredonchel, Elodie, Mohand-Saïd, Saddek, Defoort-Dhellemmes, Sabine, Sahel, José-Alain, Dollfus, Hélène, Zanlonghi, Xavier, Audo, Isabelle, Meunier, Isabelle, Boulanger-Scemama, Elise, Dhaenens, Claire-Marie
Published in International journal of molecular sciences (15.06.2021)
Published in International journal of molecular sciences (15.06.2021)
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Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants
Poncet, Anaïs F, Grunewald, Olivier, Vaclavik, Veronika, Meunier, Isabelle, Drumare, Isabelle, Pelletier, Valérie, Bocquet, Béatrice, Todorova, Margarita G, Le Moing, Anne-Gaëlle, Devos, Aurore, Schorderet, Daniel F, Jobic, Florence, Defoort-Dhellemmes, Sabine, Dollfus, Hélène, Smirnov, Vasily M, Dhaenens, Claire-Marie
Published in International journal of molecular sciences (13.04.2022)
Published in International journal of molecular sciences (13.04.2022)
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Alternative promoter usage generates novel shorter MAPT mRNA transcripts in Alzheimer’s disease and progressive supranuclear palsy brains
Huin, Vincent, Buée, Luc, Behal, Hélène, Labreuche, Julien, Sablonnière, Bernard, Dhaenens, Claire-Marie
Published in Scientific reports (03.10.2017)
Published in Scientific reports (03.10.2017)
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Expanding the Mutation Spectrum in ABCA4 : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort
Nassisi, Marco, Mohand-Saïd, Saddek, Dhaenens, Claire-Marie, Boyard, Fiona, Démontant, Vanessa, Andrieu, Camille, Antonio, Aline, Condroyer, Christel, Foussard, Marine, Méjécase, Cécile, Eandi, Chiara Maria, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Published in International journal of molecular sciences (27.07.2018)
Published in International journal of molecular sciences (27.07.2018)
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Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection
Fages, Victor, Bourre, Florentin, Larrue, Romain, Wenzel, Andrea, Gibier, Jean-Baptiste, Bonte, Fabrice, Dhaenens, Claire-Marie, Kidd, Kendrah, Kmoch, Stanislav, Bleyer, Anthony, Glowacki, François, Grunewald, Olivier
Published in Kidney international reports (01.05.2024)
Published in Kidney international reports (01.05.2024)
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Myotonic Dystrophy: an RNA Toxic Gain of Function Tauopathy?
Fernandez-Gomez, Francisco, Tran, Helene, Dhaenens, Claire-Marie, Caillet-Boudin, Marie-Laure, Schraen-Maschke, Susanna, Blum, David, Sablonnière, Bernard, Buée-Scherrer, Valérie, Buee, Luc, Sergeant, Nicolas
Published in Advances in experimental medicine and biology (01.01.2019)
Published in Advances in experimental medicine and biology (01.01.2019)
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