Search publications

Publications

  • Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell-Sampol L, Català-Mora J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG and Kohl S.

    The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA . 119(27): 211553811. Number of citations: 8

    [doi:10.1073/pnas.2115538119]

  • Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Porto FBO, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Cumhur Sener E, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B and Kohl S.

    Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

    HUMAN MUTATION . 43(7): 832-858. Number of citations: 11

    [doi:10.1002/humu.24371]

  • Cuadrado-Vilanova M, Liu J, Paco-Mercader S, Aschero MR, Burgeño-Sandoval V, Sirab N, Pascual-Pastó G, Correa G, Balaguer-Lluna L, Castillo H, Pérez-Jaume S, Muñoz-Aznar O, Roldan-Molina M, Suñol M, Schaiquevich P, Aerts I, Doz F, Cassoux N, Lubieniecki F, Benitez-Ribas D, Lavarino C, Mora J, Chantada G, Català-Mora J, Radvanyi F and Carcaboso AM.

    Identification of immunosuppressive factors in retinoblastoma cell secretomes and aqueous humor from patients

    JOURNAL OF PATHOLOGY . 257(3): 327-339. Number of citations: 7

    [doi:10.1002/path.5893]

  • Fabian ID, Stacey AW, Foster A, Kivelä TT, Munier FL, Keren-Froim N, Gomel N, Cassoux N, Sagoo MS, Reddy MA, Harby LA, Zondervan M, Bascaran C, Abdallah E, Abdullahi SU, Boubacar SA, Ademola-Popoola DS, Adio A, Aghaji AE, Portabella SA, Alfa Bio AI, Ali AM, Alia DB, All-Eriksson C, Almeida AA, Alsawidi KM, Antonino R, Astbury NJ, Atsiaya R, Balaguer J, Balwierz W, Barranco H, Popovic MB, Benmiloud S, Guebessi NB, Berete RC, Biddulph SJ, Biewald EM, Blum S, Bobrova N, Boehme M, Bornfeld N, Bouda GC, Bouguila H, Boumedane A, Brichard BG, L MC, Castela G, Català-Mora J, Chantada G, Chernodrinska VS, Chiwanga FS, Cieslik K, Comsa C, Correa Llano MG, Csóka M, Da Gama IV, Davidson A, Potter P, Desjardins L, Dragomir MD, Bruyn MD, Kettani AE, Elbahi AM, Elgalaly D, Elhaddad AM, Ali Elhassan MM, Elzembely MM, Essuman VA, Evina TGA, Fasina O, Fernández-Teijeiro A, Gandiwa M, Aldana DG, Geel JA, Gizachew Z, Gregersen PA, Guedenon KM, Hadjistilianou T, Hassan S, Hederova S, Hessissen L, Hordofa DF, Hummlen M, Husakova K, Ida R, Ilic VR, Jenkinson H, Amani Kabesha TB, Kabore RL, Kalinaki A, Kapelushnik N, Kardava T, Kemilev PK, Kepak T, Khotenashvili Z, Klett A, Kosh Komba Palet JE, Krivaitiene D, Kruger M, Kyara A, Lachmann ES, Latinovic S, Lecuona K, Lukamba RM, Lumbroso L, Lysytsia L, Maka E, Makan M, Manda C, Begue NM, Matende IO, Matua M, Mayet I, Mbumba FB, Mengesha AA, Midena E, Mndeme FG, Mohamedani AA, Moll AC, Moreira C, Msina MS, Msukwa G, Muma KI, Murgoi G, Musa KO, Mustak H, Muyen OM, Naidu G, Naumenko L, Ndoye Roth PA, Neroev V, Nikitovic M, Nkanga ED, Nkumbe H, Nyaywa M, Obono-Obiang G, Oguego NC, Olechowski A, Oscar AH, Osei-Bonsu P, Painter SL, Paintsil V, Paiva L, Papyan R, Parrozzani R, Parulekar M, Pawinska-Wasikowska K, Peric S, Philbert R, Pochop P, Polyakov VG, Pompe MT, Pons JJ, Raobela L, Renner LA, Reynders D, Ribadu D, Riheia MM, Ritter-Sovinz P, Saakyan S, Said AM, Román Pacheco SS, Scanlan TA, Schoeman J, Seregard S, Sherief ST, Cheikh SS, Silva S, Sorochynska T, Ssali G, Stathopoulos C, Kranjc BS, Stones DK, Svojgr K, Sylla F, Tamamyan G, Tandili A, Tateshi B, Theophile T, Traoré F, Tyau-Tyau H, Umar AB, Urbak SF, Ushakova TL, Valeina S, Hoefen Wijsard MV, Veleva-Krasteva NV, Viksnins M, Wackernagel W, Waddell K, Wade PD, Wali Nigeria AH, Wime AD, Dod CW, Yanga JM, Yarovaya VA, Yarovoy AA, Zein E, Sharabi S, Zhilyaeva K, Ziko OA and Bowman R.

    Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries.

    BRITISH JOURNAL OF OPHTHALMOLOGY . 105(10): 1435-1443. Number of citations: 20

    [doi:10.1136/bjophthalmol-2020-316613]

  • Liu J, Ottaviani D, Sefta M, Desbrousses C, Chapeaublanc E, Aschero R, Sirab N, Lubieniecki F, Lamas G, Tonon L, Dehainault C, Hua C, Fréneaux P, Reichman S, Karboul N, Biton A, Mirabal-Ortega L, Larcher M, Brulard C, Arrufat S, Nicolas A, Elarouci N, Popova T, Némati F, Decaudin D, Gentien D, Baulande S, Mariani O, Dufour F, Guibert S, Vallot C, Rouic LL, Matet A, Desjardins L, Pascual-Pastó G, Suñol M, Català-Mora J, Llano GC, Couturier J, Barillot E, Schaiquevich P, Gauthier-Villars M, Stoppa-Lyonnet D, Golmard L, Houdayer C, Brisse H, Bernard-Pierrot I, Letouzé E, Viari A, Saule S, Sastre-Garau X, Doz F, Carcaboso AM, Cassoux N, Pouponnot C, Goureau O, Chantada G, de Reyniès A, Aerts I and Radvanyi F.

    A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

    NATURE COMMUNICATIONS . 12(1): 5578-5578. Number of citations: 56

    [doi:10.1038/s41467-021-25792-0]

  • Stacey AW, Bowman R, Foster A, Kivelä TT, Munier FL, Cassoux N, Fabian ID, Al Harby L, Alarcón Portabella S, Alia DB, All-Eriksson C, Antonino R, Astbury NJ, Balaguer J, Balwierz W, Barranco H, Bascaran C, Beck Popovic M, Biewald EM, Bobrova N, Bornfeld N, Brichard BG, Blum S, Capra M, Castela G, Català-Mora J, Chantada G, Chernodrinska VS, Cieslik K, Comsa C, Correa Llano MG, Csóka M, De Potter P, Desjardins L, Dragomir MD, Fernández-Teijeiro A, García Aldana D, Gregersen PA, Gomel N, Hadjistilianou T, Hederova S, Hummlen M, Husakova K, Ida R, Ilic VR, Jenkinson H, Kapelushnik N, Kardava T, Keren-Froim N, Kepak T, Khotenashvili Z, Klett A, Krivaitiene D, Latinovic S, Lumbroso L, Lysytsia L, Maka E, Martín Begue N, Midena E, Moll AC, Murgoi G, Naumenko L, Neroev V, Nikitovic M, Olechowski A, Papyan R, Parrozzani R, Parulekar MV, Pawinska-Wasikowska K, Peric S, Pochop P, Polyakov VG, Reddy MA, Ritter-Sovinz P, Saakyan S, Sagoo MS, San Román Pacheco S, Seregard S, Silva S, Sorochynska T, Stathopoulos C, Stirn Kranjc B, Svojgr K, Tamamyan G, Tandili A, Tateshi B, Tekavcic Pompe M, Urbak SF, Ushakova TL, Valeina S, van Hoefen Wijsard M, Veleva-Krasteva NV, Viksnins M, Wackernagel W, Wolley Dod C, Yarovaya VA, Yarovoy AA, Zhilyaeva K, Zondervan M and Global Retinoblastoma Study Group.

    Incidence of Retinoblastoma Has Increased: Results from 40 European Countries.

    Ophthalmology . 128(9): 1369-1371. Number of citations: 32

    [doi:10.1016/j.ophtha.2021.01.024]

  • Montolío-Marzo S, Carreras-Bertran E and Català-Mora J.

    Knobloch syndrome: a rare cause of paediatric retinal detachment.

    CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE . 56(3): 213-214.

    [doi:10.1016/j.jcjo.2020.10.013]

  • Tomar AS, Finger PT, Gallie B, Kivelä TT, Mallipatna A, Zhang C, Zhao J, Wilson MW, Brenna RC, Burges M, Kim J, Khetan V, Ganesan S, Yarovoy A, Yarovaya V, Kotova E, Yousef YA, Nummi K, Ushakova TL, Yugay OV, Polyakov VG, Ramirez-Ortiz MA, Esparza-Aguiar E, Chantada G, Schaiquevich P, Fandino A, Yam JC, Lau WW, Lam CP, Sharwood P, Moorthy S, Long QB, Essuman VA, Renner LA, Semenova E, Català-Mora J, Correa-Llano G, Carreras-Bertran E and American Joint Committee on Cancer Ophthalmic Oncology Task Force.

    Global Retinoblastoma Treatment Outcomes: Association with National Income Level.

    Ophthalmology . 128(5): 740-753. Number of citations: 47

    [doi:10.1016/j.ophtha.2020.09.032]

  • Castany-Aregall M, Aparicio G, Grau N, Carceller A, Pérez-Hoyos S, Català-Mora J and Anton A.

    Angioid streaks and obstructive sleep apnea syndrome: are they related?

    SLEEP AND BREATHING . 25(1): 163-169.

    [doi:10.1007/s11325-020-02019-y]

  • Mansour AM, Kozak I, Saatci AO, Ascaso FJ, Broc L, Battaglia M, Olivier N, Gili P, Chhablani J, Hedges TR, Honrubia A, Gutierrez L, Panozzo G, Català-Mora J, Díaz J, Carreras E, Kadayifcilar S, Al Kahtani ES, Uwaydat SH, Lima LH, Mansour HA, Khan HA, Aaberg TM, Bovino JA and Hunyor AP.

    Prepapillary vascular loop-a new classification

    Eye . 35(2): 425-432. Number of citations: 3

    [doi:10.1038/s41433-020-0859-3]