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Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes Scheidecker, Sophie; Bar, Severine; Kroll-Hermi, Ariane; Delvallee, Clarisse; Rinaldi, Bruno; Korpioja, Anita; Geoffroy, Veronique; Schaefer, Elise; Secula, Samira; Jaeger, Catherine; Stoetzel, Corinne; Kassel, Olivier; Straehle, Uwe; Bertoli-Avella, Aida; Zonic, Emir; Lamouche, Jean-Baptiste; Zanlonghi, Xavier; Etard, Christelle; Muller, Jean; Rahikkala, Elisa; Friant, Sylvie; Dollfus, Helene Share Save
Impact of Setmelanotide on Metabolic Syndrome Risk in Patients With Bardet-Biedl Syndrome Haqq, Andrea M.; Poitou, Christine; Chung, Wendy K.; Forsythe, Elizabeth; Conroy, Rushika; Dollfus, Helene; Malhotra, Sonali; Touchot, Nicolas; Okorie, Uzoma; Beales, Philip; Clement, Karine; Argente, Jesus Share Save
Efficacy and safety of lenadogene nolparvovec gene therapy for leber hereditary optic neuropathy in the real-life setting Yu-Wai-Man, P; Vignal-Clermont, C; Carelli, V; La Morgia, C; Moster, M; Sergott, R; Donahue, S; Dollfus, H; Klopstock, T; Priglinger, C; Hage, R; Smirnov, V; Cochard, C; Rougier, MB; Tournaire-Marques, E; Lebranchu, P; Froment, C; Pollet-Villard, F; Laville, MA; Prospero-Ponce, C; Walter, SD; Munier, F; Zoppe, P; Taiel, M; Sahel, JA Share Save
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Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations Dollfus, Helene; Lilien, Marc R.; Maffei, Pietro; Verloes, Alain; Muller, Jean; Bacci, Giacomo M.; Cetiner, Metin; van den Akker, Erica L. T.; Pechhacker, Monika Grudzinska; Testa, Francesco; Lacombe, Didier; Stokman, Marijn F.; Simonelli, Francesca; Gouronc, Aurelie; Gavard, Amelie; van Haelst, Mieke M.; Koenig, Jens; Rossignol, Sylvie; Bergmann, Carsten; Zacchia, Miriam; Leroy, Bart P.; Mosbah, Helena; Van Eerde, Albertien M.; Mekahli, Djalila; Servais, Aude; Poitou, Christine; Valverde, Diana Share Save
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study Igelman, Austin D.; White, Elizabeth; Tayyib, Alaa; Everett, Lesley; Vincent, Ajoy; Heon, Elise; Zeitz, Christina; Michaelides, Michel; Mahroo, Omar A.; Katta, Mohamed; Webster, Andrew; Preising, Markus; Lorenz, Birgit; Khateb, Samer; Banin, Eyal; Sharon, Dror; Luski, Shahar; Van Den Broeck, Filip; Leroy, Bart Peter; De Baere, Elfride; Walraedt, Sophie; Stingl, Katarina; Kuehlewein, Laura; Kohl, Susanne; Reith, Milda; Fulton, Anne; Raghuram, Aparna; Meunier, Isabelle; Dollfus, Helene; Aleman, Tomas S.; Bedoukian, Emma C.; O'Neil, Erin C.; Krauss, Emily; Vincent, Andrea; Jordan, Charlotte; Iannaccone, Alessandro; Sen, Parveen; Sundaramurthy, Srilekha; Nagasamy, Soumittra; Balikova, Irina; Casteels, Ingele; Borooah, Shyamanga; Yassin, Shaden; Nagiel, Aaron; Schwartz, Hillary; Zanlonghi, Xavier; Gottlob, Irene; Mclean, Rebecca J.; Munier, Francis L.; Stephenson, Andrew; Sisk, Robert; Koenekoop, Robert; Wilson, Lorri B.; Fredrick, Douglas; Choi, Dongseok; Yang, Paul; Pennesi, Mark Edward Share Save
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders Liu, James; He, Yi; Lwin, Cara; Han, Marina; Guan, Bin; Naik, Amelia; Bender, Chelsea; Moore, Nia; Huryn, Laryssa A.; Sergeev, Yuri, V; Qian, Haohua; Zeng, Yong; Dong, Lijin; Liu, Pinghu; Lei, Jingqi; Haugen, Carl J.; Prasov, Lev; Shi, Ruifang; Dollfus, Helene; Aristodemou, Petros; Laich, Yannik; Nemeth, Andrea H.; Taylor, John; Downes, Susan; Krawczynski, Maciej R.; Meunier, Isabelle; Strassberg, Melissa; Tenney, Jessica; Gao, Josephine; Shear, Matthew A.; Moore, Anthony T.; Duncan, Jacque L.; Menendez, Beatriz; Hull, Sarah; Vincent, Andrea L.; Siskind, Carly E.; Traboulsi, Elias, I; Blackstone, Craig; Sisk, Robert A.; Utz, Virginia Miraldi; Webster, Andrew R.; Michaelides, Michel; Arno, Gavin; Synofzik, Matthis; Hufnagel, Robert B. Share Save
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Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy Gouronc, Aurelie; Javey, Elodie; Leuvrey, Anne-Sophie; Nourisson, Elsa; Friedmann, Sylvie; Reichert, Valerie; Derive, Nicolas; Francannet, Christine; Keren, Boris; Levy, Jonathan; Planes, Marc; Ruaud, Lyse; Amiel, Jeanne; Dollfus, Helene; Scheidecker, Sophie; Muller, Jean Share Save
Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results Forsythe, Elizabeth; Haws, Robert M.; Argente, Jesus; Beales, Philip; Martos-Moreno, Gabriel A.; Dollfus, Helene; Chirila, Costel; Gnanasakthy, Ari; Buckley, Brieana C.; Mallya, Usha G.; Clement, Karine; Haqq, Andrea M. Share Save
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Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type Pacot, Laurence; Pelletier, Valerie; Chansavang, Albain; Briand-Suleau, Audrey; des Roziers, Cyril Burin; Coustier, Audrey; Maillard, Theodora; Vaucouleur, Nicolas; Orhant, Lucie; Barbance, Cecile; Lermine, Alban; Hamzaoui, Nadim; Hadjadj, Djihad; Laurendeau, Ingrid; El Khattabi, Laila; Nectoux, Juliette; Vidaud, Michel; Parfait, Beatrice; Dollfus, Helene; Pasmant, Eric; Vidaud, Dominique Share Save
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The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy Wissinger, Bernd; Baumann, Britta; Buena-Atienza, Elena; Ravesh, Zeinab; Cideciyan, Artur, V; Stingl, Katarina; Audo, Isabelle; Meunier, Isabelle; Bocquet, Beatrice; Traboulsi, Elias, I; Hardcastle, Alison J.; Gardner, Jessica C.; Michaelides, Michel; Branham, Kari E.; Rosenberg, Thomas; Andreasson, Sten; Dollfus, Helene; Birch, David; Vincent, Andrea L.; Martorell, Loreto; Mora, Jaume Catala; Kellner, Ulrich; Ruther, Klaus; Lorenz, Birgit; Preising, Markus N.; Manfredini, Emanuela; Zarate, Yuri A.; Vijzelaar, Raymon; Zrenner, Eberhart; Jacobson, Samuel G.; Kohl, Susanne Share Save
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Catala-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R.; Jacobson, Samuel G.; Jones, Kaylie; Jaegle, Herbert; Janecke, Andreas R.; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, Andre; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S.; de Ravel, Thomy J. L.; Reiff, Charlotte M.; Renner, Agnes B.; Rosenberg, Thomas; Rudolph, Guenther; Salati, Roberto; Sener, E. Cumhur; Sieving, Paul A.; Stanzial, Franco; Traboulsi, Elias, I; Tsang, Stephen H.; Varsanyi, Balazs; Weleber, Richard G.; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd; Kohl, Susanne Share Save
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