Vasiliki Kalatzis

universites de strasbourg etablissements associes

H指数:31

被引数:4,021

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Generation of an induced pluripotent stem cell line from an Alstro¨m syndrome patient with biallelic ALMS1 pathogenic variants

从一名具有双等位ALMS1致病变异的阿爾斯特羅姆綜合征患者中生成一個誘導性多能幹細胞系

Stem Cell Research

IF0.7

2026-08-011

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4和U6 snRNA基因的新生和遗传显性变异导致色素性视网膜炎

Nature Genetics

IF29

2026-01-090

OAAI

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; Tahsin Stefan Barakat; Mirella T. S. Barboni; Miriam Bauwens; Tamar Ben-Yosef; Virginie Bernard; David G. Birch; Pooja Biswas; Fiona Blanco-Kelly; Beatrice Bocquet; Camiel J. F. Boon; Kari Branham; Dominique Bremond-Gignac; Alexis Ceecee Britten-Jones; Kinga M. Bujakowska; Cyril Burin des Roziers; Elizabeth L. Cadena; Giacomo Calzetti; Francesca Cancellieri; Luca Cattaneo; Naomi Chadderton; Peter Charbel Issa; Luísa Coutinho-Santos; Stephen P. Daiger; Elfride De Baere; Marieke De Bruyne; 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; Beau J. Fenner; Lidia Fernández-Caballero; Juliana M. Ferraz Sallum; Simone Gana; Alejandro Garanto; Jessica C. Gardner; Christian Gilissen; Roser Gonzàlez-Duarte; Kensuke Goto; Sam Griffiths-Jones; Tobias B. Haack; Lonneke Haer-Wigman; Alison J. Hardcastle; Takaaki Hayashi; Elise Héon; Lies H. Hoefsloot; Alexander Hoischen; Josephine P. Holtan; Carel B. Hoyng; Manuel Benjamin B. Ibanez; Chris F. Inglehearn; Takeshi Iwata; Brynjar O. Jensson; Kaylie Jones; Vasiliki Kalatzis; Smaragda Kamakari; Marianthi Karali; Ulrich Kellner; Caroline C. W. Klaver; Krisztina Knézy; Robert K. Koenekoop; Susanne Kohl; Taro Kominami; Laura Kühlewein; Tina M. Lamey; Rina Leibu; Bart P. Leroy; Petra Liskova; Irma Lopez; Victor R. de J. López-Rodríguez; Quinten Mahieu; Omar A. Mahroo; Gaël Manes; Luke Mansard; M. Pilar Martín-Gutiérrez; Nelson Martins; Laura Mauring; 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; Francis Ramond; Florence Andrée Rasquin; Gillian I. Rice; Lisa Roberts; María Rodríguez-Hidalgo; Javier Ruiz-Ederra; 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 G. Signorini; Francesca Simonelli; Ana Berta Sousa; Maria Stefaniotou; Kari Stefansson; Katarina Stingl; Akiko Suga; Patrick Sulem; Lori S. Sullivan; Viktória Szabó; Jacek P. Szaflik; Gita Taurina; Alberta A. H. J. Thiadens; Carmel Toomes; Viet H. Tran; Miltiadis K. Tsilimbaris; Pavlina Tsoka; Veronika Vaclavik; Marie Vajter; Sandra Valeina; Enza Maria Valente; Casey Valentine; Rebeca Valero; Sophie Valleix; Joseph van Aerschot; L. Ingeborgh van den Born; Mattias Van Heetvelde; Virginie J. M. Verhoeven; Andrea L. Vincent; Andrew R. Webster; Laura Whelan; Bernd Wissinger; Georgia G. Yioti; Kazutoshi Yoshitake; Juan C. Zenteno; Roberta Zeuli; Theresia Zuleger; Chaim Landau; Allan I. Jacob; Siying Lin; Frans P. M. Cremers; Winston Lee; Jamie M. Ellingford; David Stanek; Susanne Roosing; Carlo Rivolta

Modulation of Aerobic Glycolysis Genes During the Progression of Retinitis Pigmentosa

视网膜色素变性进展过程中有氧糖酵解基因的调控

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2026-01-010

Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

患者iPSCs中的基因组编辑纠正了最常见的USH2A突变，并揭示了有趣的突变mRNA表达谱。

Molecular Therapy Methods & Clinical Development

IF4.7

2025-11-240

OAAI

RetiGene, a comprehensive gene atlas for inherited retinal diseases

RetiGene，一种全面的遗传性视网膜疾病基因图谱

american journal of human genetics

IF0

2025-09-160

OAAI

Carlo Rivolta; Elifnaz Celik; Dhryata Kamdar; Francesca Cancellieri; Karolina Kaminska; Mukhtar Ullah; Pilar Barberán-Martínez; Manon Bouckaert; Marta Cortón; Emma Delanote; Lidia Fernández-Caballero; Gema García García; Lara K. Holtes; Marianthi Karali; Irma Lopez; Virginie G. Peter; Nina Schneider; Lieselot Vincke; Carmen Ayuso; Sandro Banfi; Beatrice Bocquet; Frauke Coppieters; Frans P.M. Cremers; Chris F. Inglehearn; Takeshi Iwata; Vasiliki Kalatzis; Robert K. Koenekoop; José M. Millán; Dror Sharon; Carmel Toomes; Mathieu Quinodoz

Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapy

MOLECULAR THERAPY

IF12

2024-12-010

OAAI

Differential pathogenetic mechanisms of mutations in helix 2 and helix 6 of rhodopsin

INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES

IF8.5

2024-11-010

OAAI

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-07-052

PRE

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

JCI INSIGHT

IF6.1

2023-11-085

Bocquet, Beatrice; Borday, Caroline; Erkilic, Nejla; Mamaeva, Daria; Donval, Alicia; Masson, Christel; Parain, Karine; Kaminska, Karolina; Quinodoz, Mathieu; Perea-Romero, Irene; Garcia-Garcia, Gema; Jimenez-Medina, Carla; Boukhaddaoui, Hassan; Coget, Arthur; Leboucq, Nicolas; Calzetti, Giacomo; Gandolfi, Stefano; Percesepe, Antonio; Barili, Valeria; Uliana, Vera; Delsante, Marco; Bozzetti, Francesca; Scholl, Hendrik P. N.; Corton, Marta; Ayuso, Carmen; Millan, Jose M.; Rivolta, Carlo; Meunier, Isabelle; Perron, Muriel; Kalatzis, Vasiliki

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2023-10-0114

OAAI

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2023-05-123