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论文共 273 篇作者统计合作学者相似作者

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A Comprehensive Genetic Landscape of Inherited Retinal Diseases in a Large Pakistani Cohort
Mukhtar Ullah,Atta Ur Rehman, Mathieu Quinodoz,Abdur Rashid, Francesca Cancellieri, Asad Munir, Karolina Kaminska, Afia Iqbal, Samra Javed,Muhammad Dawood, Hafiz Muhammad Azhar Baig,Shamim Saleha,Shagufta Naz, Humera Kausar,Ali Muhammad Waryah,Andrea Superti-Furga, Muhammad Ansar,Carlo Rivolta
NPJ genomic medicineno. 1 (2025): 31-31
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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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Autosomal Dominant RP1 C.2613dupa (p.arg872thrfs*2) Variant Retinitis Pigmentosa Shows Linear Loss of the Ellipsoid Zone over Time with Highly Variable Phenotype
Nastasia Foa,Maximilian Pfau, Georg Ansari, Giuseppe Cancian, Gabriela Grimaldi,Samuel Koller,Wolfgang Berger,Pascal Escher, Lucas Janeschitz-Kriegl,Carlo Rivolta,Hendrik P N Scholl,Moreno Menghini
Ophthalmologica Journal international d'ophtalmologie International journal of ophthalmology Zeitschrift fur Augenheilkundepp.1-10, (2025)
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High-efficiency Base Editing in the Retina in Primates and Human Tissues
Alissa Muller,Jack Sullivan,Wibke Schwarzer,Mantian Wang,Cindy Park-Windhol,Pascal W. Hasler, Lucas Janeschitz-Kriegl, Mert Duman, Beryll Klingler, Jane Matsell, Simon Manuel Hostettler, Patricia Galliker, Yanyan Hou, Pierre Balmer, Tamás Virág,Luis Alberto Barrera,Lauren Young,Quan Xu, Dániel Péter Magda,Ferenc Kilin, Arogya Khadka,Pierre-Henri Moreau,Lyne Fellmann,Thierry Azoulay, Mathieu Quinodoz, Duygu Karademir, Juna Leppert, Alex Fratzl,Georg Kosche,Ruchi Sharma,Jair Montford, Marco Cattaneo, Mikaël Croyal, Therese Cronin,Simone Picelli,Alice Grison,Cameron S. Cowan,Ákos Kusnyerik,Philipp Anders, Magdalena Renner,Zoltán Zsolt Nagy,Arnold Szabó,Kapil Bharti,Carlo Rivolta, Hendrik P. N. Scholl,David Bryson,Giuseppe Ciaramella,Botond Roska,Bence György
Nature Medicinepp.1-12, (2025)
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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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Novel Founder Variant in the S-antigen Visual Arrestin Gene SAG is the Most Prevalent Cause of Autosomal Dominant Retinitis Pigmentosa in Singaporean Chinese
Mathieu Quinodoz, Yixin Lai, Rachael Wei Chao Tang, Hwee Goon Tay,Tien-En Tan, Saadia Z Farooqui, Choi Mun Chan, Ranjana S Mathur,Carlo Rivolta,Beau J Fenner
Journal of medical genetics (2025)
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作者统计

#Papers: 273

#Citation: 17091

H-Index: 48

G-Index: 128

Sociability: 8

Diversity: 3

Activity: 63

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