Veronika Vaclavik - Publications, H-index & Citations

Veronika Vaclavik

jules-gonin eye hospital

18H指数

86论文数

942被引数

收录论文 22

发表时间

Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosa 与色素性视网膜炎相关的CNGA1错义变异的系统功能评估

Molecular Medicine

IF6.4

2026-05-27

OAAI

Peggy Reuter; Jennifer Schroeder; Marc Sturm; Mathieu Quinodoz; Veronika Vaclavik; Miriam Bauwens; Marieke De Bruyne; Bart Leroy; Joseph van Aerschot; Katarina Stingl; Susanne Kohl

Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement FSD1L基因的双等位基因变异可导致伴有或不伴有神经系统受累的色素性视网膜炎。

The American Journal of Human Genetics

IF0

2026-02-19

OAAI

Siying Lin; Francesca Cancellieri; Yexuan Cao; Andrew J. Lotery; Abigail R. Moye; Veronika Vaclavik; Fabienne Perren; Andrzej B. Poplawski; Elena R. Schiff; Mukhtar Ullah; Ana Belen Iglesias-Romero; Karolina Kaminska; Aleksandr Jestin; Marc Folcher; Sandrine Wallerich; Mariana M. Ribeiro; Vincent Hahaut; Simone Picelli; Debarshi Mustafi; Aleksander Tworak

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

2026-01-09

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

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2025-04-01

OAAI

Kaminska, Karolina; Cancellieri, Francesca; Quinodoz, Mathieu; Moye, Abigail R.; Bauwens, Miriam; Lin, Siying; Janeschitz-Kriegl, Lucas; Hayman, Tamar; Barberan-Martinez, Pilar; Schlaeger, Regina; van den Broeck, Filip; Fernandez, Almudena Avila; Fernandez-Caballero, Lidia; Perea-Romero, Irene; Garcia-Garcia, Gema; Salom, David; Mazzola, Pascale; Zuleger, Theresia; Poths, Karin; Haack, Tobias B.; Jacob, Julie; Vermeer, Sascha; Terbeek, Frederique; Feltgen, Nicolas; Moulin, Alexandre P.; Koutroumanou, Louisa; Papadakis, George; Browning, Andrew C.; Madhusudhan, Savita; Granse, Lotta; Banin, Eyal; Sousa, Ana Berta; Santos, Luisa Coutinho; Kuehlewein, Laura; De Angeli, Pietro; Leroy, Bart P.; Mahroo, Omar A.; Sedgwick, Fay; Eden, James; Pfau, Maximilian; Andreasson, Sten; Scholl, Hendrik P. N.; Ayuso, Carmen; Millan, Jose M.; Sharon, Dror; Tsilimbaris, Miltiadis K.; Vaclavik, Veronika; Tran, Hoai, V; Ben-Yosef, Tamar; De Baere, Elfride; Webster, Andrew R.; Arno, Gavin; Sergouniotis, Panagiotis I.; Kohl, Susanne; Santos, Cristina; Rivolta, Carlo

A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models

HUMAN MOLECULAR GENETICS

IF3.2

2025-03-01

OAAI

Corral-Serrano, Julio C.; Vaclavik, Veronika; van de Sompele, Stijn; Kaminska, Karolina; Jovanovic, Katarina; Escher, Pascal; van den Broeck, Filip; Cancellieri, Francesca; Toulis, Vasileios; Leroy, Bart P.; de Zaeytijd, Julie; You, Zhixuan; Ottaviani, Daniele; Quinodoz, Mathieu; Bordeanu, Gabriela; Hardcastle, Alison J.; Coppieters, Frauke; Tran, Viet H.; Cheetham, Michael E.; Rivolta, Carlo; De Baere, Elfride

Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1

OPHTHALMOLOGY SCIENCE

IF4.6

2025-01-01

OAAI

Sallo, Ferenc B.; Dysli, Chantal; Holzer, Franz Josef; Ranza, Emmanuelle; Guipponi, Michel; Antonarakis, Stylianos E.; Munier, Francis L.; Bird, Alan C.; Schorderet, Daniel F.; Rossillion, Beatrice; Vaclavik, Veronika

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-12-13

OAAI

Karali, Marianthi; Garcia-Garcia, Gema; Kaminska, Karolina; Altalbishi, Alaa; Cancellieri, Francesca; Testa, Francesco; Barillari, Maria Rosaria; Panagiotou, Evangelia S.; Psillas, George; Vaclavik, Veronika; Tran, Viet H.; Janeschitz-Kriegl, Lucas; Scholl, Hendrik P. N.; Salameh, Manar; Barberan-Martinez, Pilar; Rodriguez-Munoz, Ana; Armengot, Miguel; Scarpato, Margherita; Zeuli, Roberta; Quinodoz, Mathieu; Simonelli, Francesca; Rivolta, Carlo; Banfi, Sandro; Millan, Jose M.

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-09-01

OAAI

Malka, Samantha; Biswas, Pooja; Berry, Anne-Marie; Sangermano, Riccardo; Ullah, Mukhtar; Lin, Siying; D'Antonio, Matteo; Jestin, Aleksandr; Jiao, Xiaodong; Quinodoz, Mathieu; Sullivan, Lori; Gardner, Jessica C.; Place, Emily M.; Michaelides, Michel; Kaminska, Karolina; Mahroo, Omar A.; Schiff, Elena; Wright, Genevieve; Cancellieri, Francesca; Vaclavik, Veronika; Santos, Cristina; Rehman, Atta Ur; Mehrotra, Sudeep; Baig, Hafiz Muhammad Azhar; Iqbal, Muhammad; Nsar, Muhammad A.; Santos, Luisa Coutinho; Sousa, Ana Berta; Tran, Viet H.; Matsui, Hiroko; Bhatia, Anjana; Naeem, Muhammad Asif; Akram, Shehla J.; Akram, Javed; Riazuddin, Sheikh; Ayuso, Carmen; Pierce, Eric A.; Hardcastle, Alison J.; Riazuddin, S. Amer; Frazer, Kelly A.; Hejtmancik, J. Fielding; Rivolta, Carlo; Bujakowska, Kinga M.; Arno, Gavin; Webster, Andrew R.; Ayyagari, Radha

Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-04-01

OAAI

Quinodoz, Mathieu; Kaminska, Karolina; Cancellieri, Francesca; Han, Ji Hoon; Peter, Virginie G.; Celik, Elifnaz; Janeschitz-Kriegl, Lucas; Schaerer, Nils; Hauenstein, Daniela; Gyoergy, Bence; Calzetti, Giacomo; Hahaut, Vincent; Custodio, Sonia; Sousa, Ana Cristina; Wada, Yuko; Murakami, Yusuke; Fernandez, Almudena Avila; Hernandez, Cristina Rodilla; Minguez, Pablo; Ayuso, Carmen; Nishiguchi, Koji M.; Santos, Cristina; Santos, Luisa Coutinho; Tran, Viet H.; Vaclavik, Veronika; Scholl, Hendrik P. N.; Rivolta, Carlo

Coats-like Vasculopathy in Inherited Retinal Disease

OPHTHALMOLOGY

IF9.5

2023-12-01

OAAI

Varela, Malena Daich; Conti, Giovanni Marco; Malka, Samantha; Vaclavik, Veronika; Mahroo, Omar A.; Webster, Andrew R.; Tran, Viet; Michaelides, Michel

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-11-01

OAAI

van de Sompele, Stijn; Small, Kent W.; Cicekdal, Munevver Burcu; Soriano, Victor Lopez; D'haene, Eva; Shaya, Fadi S.; Agemy, Steven; van der Snickt, Thijs; Rey, Alfredo Duenas; Rosseel, Toon; Van Heetvelde, Mattias; Vergult, Sarah; Balikova, Irina; Bergen, Arthur A.; Boon, Camiel J. F.; De Zaeytijd, Julie; Inglehearn, Chris F.; Kousal, Bohdan; Leroy, Bart P.; Rivolta, Carlo; Vaclavik, Veronika; van den Ende, Jenneke; van Schooneveld, Mary J.; Gomez-Skarmeta, Jose Luis; Tena, Juan J.; Martinez-Morales, Juan R.; Liskova, Petra; Vleminckx, Kris; De Baere, Elfride

New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2022-03-25

OAAI

Vaclavik, Veronika; Tiab, Leila; Sun, Young Joo; Mahajan, Vinit B.; Moulin, Alexandre; Allaman-Pillet, Nathalie; Munier, Francis L.; Schorderet, Daniel F.

Statins in ophthalmology

SURVEY OF OPHTHALMOLOGY

IF5.9

2019-05-01

PREAI

Ooi, Kenneth G-J; Khoo, Pauline; Vaclavik, Veronika; Watson, Stephanie L.

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

HUMAN MOLECULAR GENETICS

IF3.2

2016-08-22

OAAI

Bedoni, Nicola; Haer-Wigman, Lonneke; Vaclavik, Veronika; Tran, Viet H.; Farinelli, Pietro; Balzano, Sara; Royer-Bertrand, Beryl; El-Asrag, Mohammed E.; Bonny, Olivier; Ikonomidis, Christos; Litzistorf, Yan; Nikopoulos, Konstantinos; Yioti, Georgia G.; Stefaniotou, Maria I.; McKibbin, Martin; Booth, Adam P.; Ellingford, Jamie M.; Black, Graeme C.; Toomes, Carmel; Inglehearn, Chris F.; Hoyng, Carel B.; Bax, Nathalie; Klaver, Caroline C. W.; Thiadens, Alberta A.; Murisier, Fabien; Schorderet, Daniel F.; Ali, Manir; Cremers, Frans P. M.; Andreasson, Sten; Munier, Francis L.; Rivolta, Carlo

Presence of a Triple Concentric Autofluorescence Ring in NR2E3-p.G56R-Linked Autosomal Dominant Retinitis Pigmentosa (ADRP)

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2016-04-20

OAAI

Escher, Pascal; Vaclavik, Veronika; Munier, Francis L.; Tran, H. Viet

Double Concentric Autofluorescence Ring in NR2E3-p.G56R-Linked Autosomal Dominant Retinitis Pigmentosa

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2012-07-13

OAAI

Escher, Pascal; Tran, Hoai V.; Vaclavik, Veronika; Borruat, Francois X.; Schorderet, Daniel F.; Munier, Francis L.

Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families Carrying Mutations in PRPF8

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2011-12-02

PREAI

Maubaret, Cecilia G.; Vaclavik, Veronika; Mukhopadhyay, Rajarshi; Waseem, Naushin H.; Churchill, Amanda; Holder, Graham E.; Moore, Anthony T.; Bhattacharya, Shomi S.; Webster, Andrew R.

Prognosis for Splicing Factor PRPF8 Retinitis Pigmentosa, Novel Mutations and Correlation between Human and Yeast Phenotypes 剪接因子PRPF8视网膜色素变性的预后，新突变以及人类和酵母表型之间的相关性

HUMAN MUTATION

IF3.7

2010-03-15

OAAI

Towns, Katherine V.; Kipioti, Athina; Long, Vernon; McKibbin, Martin; Maubaret, Cecilia; Vaclavik, Veronika; Ehsani, Parastoo; Springell, Kelly; Kamal, Mohammed; Ramesar, Raj S.; Mackey, David A.; Moore, Anthony T.; Mukhopadhyay, Rajarshi; Webster, Andrew R.; Black, Graeme C. M.; O'Sullivan, James; Bhattacharya, Shomi S.; Pierce, Eric A.; Beggs, Jean D.; Inglehearn, Chris F.

Autofluorescence imaging - Reply

OPHTHALMOLOGY

IF9.5

2008-10-01

OAAI

Vaclavik, Veronika; Bird, Alan C.

Phenotypic variation in enhanced S-cone syndrome

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2008-05-01

PREAI

Audo, Isabelle; Michaelides, Michel; Robson, Anthony G.; Hawlina, Marko; Vaclavik, Veronika; Sandbach, Jennifer M.; Neveu, Magella M.; Hogg, Chris R.; Hunt, David M.; Moore, Anthony T.; Bird, Alan C.; Webster, Andrew R.; Holder, Graham E.

研究方向