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Papers共 309 篇Author StatisticsCo-AuthorSimilar Experts

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Bi-allelic Variants in Three Genes Encoding Distinct Subunits of the Vesicular AP-5 Complex Cause Hereditary Macular Dystrophy
Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R Moye, Miriam Bauwens,Siying Lin, Lucas Janeschitz-Kriegl, Tamar Hayman, Pilar Barberán-Martínez,Regina Schlaeger, Filip Van den Broeck,Almudena Ávila Fernández, Lidia Fernández-Caballero, Irene Perea-Romero,Gema García-García,David Salom, Pascale Mazzola, Theresia Zuleger, Karin Poths,Tobias B Haack,Julie Jacob,Sascha Vermeer, Frédérique Terbeek, Nicolas Feltgen, Alexandre P Moulin, Louisa Koutroumanou, George Papadakis,Andrew C Browning, Savita Madhusudhan, Lotta Gränse,Eyal Banin,Ana Berta Sousa, Luisa Coutinho Santos, Laura Kuehlewein, Pietro De Angeli,Bart P Leroy,Omar A Mahroo, Fay Sedgwick, James Eden,Maximilian Pfau,Sten Andréasson,Hendrik P N Scholl,Carmen Ayuso,José M Millán,Dror Sharon,Miltiadis K Tsilimbaris,Veronika Vaclavik, Hoai V Tran, Tamar Ben-Yosef,Elfride De Baere,Andrew R Webster,Gavin Arno,Panagiotis I Sergouniotis,Susanne Kohl,Cristina Santos,Carlo Rivolta
American journal of human geneticsno. 4 (2025): 808-828
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Clinical Manifestations of Dual-Gene Variants Involving ABCA4 in Retinal Dystrophies
Lasse Wolfram, David A. Merle, Laura Kühlewein,Milda Reith, Melanie Kempf,Krunoslav Stingl, Tobias Haack, Pascale Mazzola, Karin Poths,Nicole Weisschuh,Bernd Wissinger,Susanne Kohl,Katarina Stingl
BMC Ophthalmologyno. 1 (2025): 1-13
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RPE65 Variant P.(e519k) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals
Eline Van Vooren, Filip Van den Broeck, Quinten Mahieu, Eline Geens, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele,Sheetal Uppal,Eugenia Poliakov,Claire-Marie Dhaenens, Cheryl Y Gregory-Evans, Lies Hoefsloot, Adriana Iglesias Gonzalez,Susanne Kohl, Theresia Zuleger, Tanguy Demaret, Dominant RPE6-p.(E51K) Consortium, Sari Tuupanen, Joke Ruys, Luc Van Os, Elise Platteau,Julie Jacob,Sascha Vermeer,Laurence Postelmans,Karin Dahan,Isabelle Maystadt, Florence Rasquin,Alberta A H J Thiadens,Kirk A J Stephenson, Narin Sheri,Vasily Smirnov, Ian M MacDonald, Kevin Gregory-Evans,T Michael Redmond, Julie De Zaeytijd, Bart P Leroy, Miriam Bauwens,Elfride De Baere
Research square (2025)
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Single-guide RNA Cas9 and Enhanced-Deletion Cas9 Rescue a Recurrent USH2A-related Splicing Defect
Pietro De Angeli, Salome Spaag, Stefanida Shliaga, Arturo Flores-Tufiño,Malte Ritter,Masoud Nasri,Katarina Stingl, Laura Kühlewein,Bernd Wissinger,Susanne Kohl
Molecular therapy Nucleic acidsno. 2 (2025): 102523-102523
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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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Natural History of Autosomal Recessive IMPG2-associated Retinal Dystrophy
Michalis Georgiou,Kaoru Fujinami, Yu Fujinami-Yokokawa,Fadi Nasser, Michael J Gale,Carmen Ayuso, Omar A Mahroo,Nikolas Pontikos, Zaina Bouzia,Belen Jimenez-Rolando,Ester Carreño,Rigmor C Baraas, Josephine Prener Holtan,Ragnheidur Bragadottir,Alberta A H J Thiadens, Monika Grudzinska Pechhacker,Ajoy Vincent,Elise Héon, Alaa Altalbishi,Ramiro S Maldonado,John Neidhardt,Bohdan Kousal,Petra Lišková, Mette Bertelsen, Lars Michael Larsen,Mark E Pennesi,Susanne Kohl,Bernd Wissinger,Eberhart Zrenner, Andrew R Webster,Michel Michaelides
American journal of ophthalmology (2025)
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Author Statistics

#Papers: 309

#Citation: 9461

H-Index: 48

G-Index: 82

Sociability: 8

Diversity: 3

Activity: 55

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