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Research Interests

Papers共 66 篇Author StatisticsCo-AuthorSimilar Experts

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De Novo and Inherited Dominant Variants in U4 and U6 Snrnas Cause Retinitis Pigmentosa
Mathieu Quinodoz,Kim Rodenburg, Zuzana Cvackova,Karolina Kaminska,Suzanne E de Bruijn, Ana Belén Iglesias-Romero,Erica G M Boonen,Mukhtar Ullah, Nick Zomer,Marc Folcher,Jacques Bijon, Lara K Holtes,Stephen H Tsang,Zelia Corradi,K Bailey Freund, Stefanida Shliaga,Daan M Panneman,Rebekkah J Hitti-Malin,Manir Ali,Ala'a AlTalbishi,Sten Andréasson, Georg Ansari,Gavin Arno,Galuh D N Astuti,Carmen Ayuso,Radha Ayyagari,Sandro Banfi,Eyal Banin,Mirella T S Barboni,Miriam Bauwens,Tamar Ben-Yosef,David G Birch,Pooja Biswas,Fiona Blanco-Kelly,Beatrice Bocquet,Camiel J F Boon,Kari Branham,Alexis Ceecee Britten-Jones,Kinga M Bujakowska,Elizabeth L Cadena,Giacomo Calzetti,Francesca Cancellieri, Luca Cattaneo,Peter Charbel Issa,Naomi Chadderton,Luísa Coutinho-Santos,Stephen P Daiger,Elfride De Baere,Berta de la Cerda,John N De Roach,Julie De Zaeytijd,Ronny Derks,Claire-Marie Dhaenens,Lubica Dudakova,Jacque L Duncan,G Jane Farrar,Nicolas Feltgen,Lidia Fernández-Caballero,Juliana M Ferraz Sallum,Simone Gana,Alejandro Garanto,Jessica C Gardner,Christian Gilissen,Kensuke Goto,Roser Gonzàlez-Duarte,Sam Griffiths-Jones,Tobias B Haack,Lonneke Haer-Wigman,Alison J Hardcastle,Takaaki Hayashi,Elise Héon,Alexander Hoischen, Josephine P Holtan,Carel B Hoyng, Manuel Benjamin B Ibanez,Chris F Inglehearn,Takeshi Iwata,Kaylie Jones,Vasiliki Kalatzis,Smaragda Kamakari,Marianthi Karali,Ulrich Kellner,Krisztina Knézy,Caroline C W Klaver,Robert K Koenekoop,Susanne Kohl,Taro Kominami,Laura Kühlewein,Tina M Lamey, Bart P Leroy,María Pilar Martín-Gutiérrez, Nelson Martins,Laura Mauring,Rina Leibu,Siying Lin,Petra Liskova,Irma Lopez, Victor R de J López-Rodríguez,Omar A Mahroo,Gaël Manes,Martin McKibbin,Terri L McLaren,Isabelle Meunier,Michel Michaelides,José M Millán,Kei Mizobuchi,Rajarshi Mukherjee,Zoltán Zsolt Nagy,Kornelia Neveling,Monika Ołdak,Michiel Oorsprong, Yang Pan, Anastasia Papachristou,Antonio Percesepe,Maximilian Pfau,Eric A Pierce,Emily Place,Raj Ramesar, Florence Andrée Rasquin,Gillian I Rice,Lisa Roberts,María Rodríguez-Hidalgo, Javier Ruiz-Eddera, Ataf H Sabir,Ai Fujita Sajiki,Ana Isabel Sánchez-Barbero, Asodu Sandeep Sarma,Riccardo Sangermano, Cristina M Santos,Margherita Scarpato, Hendrik P N Scholl,Dror Sharon, Sabrina Giovanna Signorini,Francesca Simonelli,Ana Berta Sousa,Maria Stefaniotou,Katarina Stingl,Akiko Suga,Lori S Sullivan,Viktória Szabó,Jacek P Szaflik,Gita Taurina,Carmel Toomes,Viet H Tran,Miltiadis K Tsilimbaris,Pavlina Tsoka,Veronika Vaclavik,Marie Vajter,Sandra Valeina,Enza Maria Valente, Casey Valentine,Rebeca Valero, Joseph van Aerschot,L Ingeborgh van den Born,Andrew R Webster,Laura Whelan,Bernd Wissinger,Georgia G Yioti,Kazutoshi Yoshitake,Juan C Zenteno,Roberta Zeuli,Theresia Zuleger, Chaim Landau, Allan I Jacob,Frans P M Cremers,Winston Lee,Jamie M Ellingford,David Stanek,Carlo Rivolta,Susanne Roosing
medRxiv the preprint server for health sciences (2025)
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Targeted Long-Read Cdna Sequencing Reveals Novel Splice-Altering Pathogenic Variants Causing Retinal Dystrophies
Dalila Capasso,Roberta Zeuli,Gavin Arno,Michael Kwint, Raoul Timmermans, Karla A Ruiz-Ceja,Marianthi Karali,Francesca Simonelli,Sabrina Signorini,Enza Maria Valente, Frans P M Cremers,Sandro Banfi,Susanne Roosing, Daan M Panneman, Suzanne E de Bruijn
HGG advancesno. 3 (2025): 100442-100442
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Author Statistics

#Papers: 66

#Citation: 1704

H-Index: 22

G-Index: 39

Sociability: 6

Diversity: 2

Activity: 17

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