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P

Petra Lišková

first faculty of medicine
H指数:34
被引数:4,762

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Clinical and molecular features of PRCD-associated retinopathy

PRCD相关视网膜病变的临床和分子特征

Acta Ophthalmologica
IF2.8
2026-09-200
OAAI
Vasil Kostin; Karolina Kaminska; Marco Cattaneo; Enrico Ambrosini; Carmen Ayuso; Almudena Ávila-Fernández; Béatrice Bocquet; Luisa Coutinho-Santos; Benedetto Falsini; Lidia Fernandez-Caballero Palomeque; Bohdan Kousal; Petra Liskova; Inmaculada Martín-Mérida; María Juliana Ballesta-Martínez; Daan Panneman; Susanne Roosing; Isabelle Meunier; José M. Millán; Monika Pankievič; Irene Perea-Romero; Virginie Peter; Giorgio Placidi; Cristina Santos; Francesca Simonelli; Ana Berta Sousa; Francesco Testa; Marie Vajter; Marianna Weener; Mathieu Quinodoz; Carlo Rivolta; Giacomo Calzetti
The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations

AP5B1基因p.Leu785Pro变异是导致迟发性视网膜色素变性并伴有可变眼外表现的一种常见原因

Human Genetics and Genomics Advances
IF3.6
2026-08-070
OAAI
Petra Liskova; Lubica Dudakova; Karolina Kaminska; Laura Kühlewein; Stefanida Shliaga; Rina Leibu; Miriam Ehrenberg; Dinah Zur; Jana Zernant; Miriam Bauwens; Gavin Arno; Isabelle Müller; Focke Ziemssen; Viktoria Bothe; Francesca Cancellieri; Julie De Zaeytijd; Pascale Mazzola; Winston Lee; Bohdan Kousal; Marie Vajter
Paediatric Keratoconus: An ERN-EYE Clinical Consensus Statement on Diagnosis, Treatment and Follow-Up Care

儿科圆锥角膜：ERN-EYE关于诊断、治疗和随访护理的临床共识声明

Ophthalmology and Therapy
IF3.2
2026-07-310
OAAI
Luca Buzzonetti; Cosimo Mazzotta; Michele Iester; Mikk Pauklin; Daniel Boehringer; Reda Zemaitiene; Martino Vannucchi; Lidia Cocho; Pavel Studeny; Amélie Gavard; Cristina Monterosso; Dominique Bremond-Gignac; Manca Tekavcic Pompe; Jean-Louis Bourges; Petra Liskova
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
Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity

Fuchs内皮角膜营养不良风险和严重程度的遗传与人口学决定因素

JAMA OPHTHALMOLOGY
IF9.2
2025-04-010
OA
Liu, Siyin; Sadan, Amanda N.; Bhattacharyya, Nihar; Zarouchlioti, Christina; Szabo, Anita; Abreu Costa, Marcos; Hafford-Tear, Nathaniel J.; Kladny, Anne-Marie S.; Dudakova, Lubica; Ciosi, Marc; Moghul, Ismail; Wilkins, Mark R.; Allan, Bruce; Skalicka, Pavlina; Hardcastle, Alison J.; Pontikos, Nikolas; Bunce, Catey; Monckton, Darren G.; Muthusamy, Kirithika; Liskova, Petra; Tuft, Stephen J.; Davidson, Alice E.
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease ( vol 18 , e0288907 , 2023)

外显子测序揭示非综合征性胆汁淤积性肝病患者的IFT172变异（vol 18, e0288907, 2023）

PLOS ONE
IF2.6
2025-01-300
OA
Neroldova, Magdalena; Ciara, Elzbieta; Slatinska, Janka; Frankova, Sona; Liskova, Petra; Kotalova, Radana; Globinovska, Janka; Safarikova, Marketa; Pfeiferova, Lucie; Zunova, Hana; Mrazova, Lenka; Stranecky, Viktor; Vrbacka, Alena; Fabian, Ondrej; Sticova, Eva; Skanderova, Daniela; Sperl, Jan; Kalousova, Marta; Zima, Tomas; Macek, Milan; Pawlowska, Joanna; Knisely, A. S.; Kmoch, Stanislav; Jirsa, Milan
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping

光学基因组图谱揭示的组织特异性TCF4三联体重复不稳定性

EBIOMEDICINE
IF10.8
2024-10-011
OAAI
Zarouchlioti, Christina; Efthymiou, Stephanie; Facchini, Stefano; Dominik, Natalia; Bhattacharyya, Nihar; Liu, Siyin; Costa, Marcos Abreu; Szabo, Anita; Sadan, Amanda N.; Jun, Albert S.; Bugiardini, Enrico; Houlden, Henry; Cortese, Andrea; Skalicka, Pavlina; Dudakova, Lubica; Muthusamy, Kirithika; Cheetham, Michael E.; Hardcastle, Alison J.; Liskova, Petra; Tuft, Stephen J.; Davidson, Alice E.
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease

破译常见三联体重复扩增介导的疾病背后的新型TCF4-driven机制

PLOS GENETICS
IF3.7
2024-05-075
OAAI
Bhattacharyya, Nihar; Chai, Niuzheng; Hafford-Tear, Nathaniel J.; Sadan, Amanda N.; Szabo, Anita; Zarouchlioti, Christina; Jedlickova, Jana; Leung, Szi Kay; Liao, Tianyi; Dudakova, Lubica; Skalicka, Pavlina; Parekh, Mohit; Moghul, Ismail; Jeffries, Aaron R.; Cheetham, Michael E.; Muthusamy, Kirithika; Hardcastle, Alison J.; Pontikos, Nikolas; Liskova, Petra; Tuft, Stephen J.; Davidson, Alice E.
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1
AMERICAN JOURNAL OF OPHTHALMOLOGY
IF4.2
2024-02-012
OAAI
Patterson, Karynne; Chong, Jessica x.; Chung, Doug d.; Lisch, Walter; Karp, Carol l.; Dreisler, Erling; Lockington, David; Rohrbach, Jens m.; Garczarczyk-asim, Dorota; Mueller, Thomas; Tuft, Stephen j.; Skalicka, Pavlina; Wilnai, Yael; Samra, Nadra naser; Ibrahim, Ali; Mandel, Hanna; Davidson, Alice e.; Liskova, Petra; Aldave, Anthony j.; Bamshad, Michael j.; Janecke, Andreas r.
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

破坏OVOL2远端调节元件可能与角膜内皮营养不良有关

HUMAN MUTATION
IF3.7
2024-01-040
OAAI
Dudakova, Lubica; Noskova, Lenka; Kmoch, Stanislav; Filipec, Martin; Filous, Ales; Davidson, Alice E.; Toulis, Vasileios; Jedlickova, Jana; Skalicka, Pavlina; Hartmannova, Hana; Stranecky, Viktor; Drabova, Jana; Novotna, Drahuse; Havlovicova, Marketa; Sedlacek, Zdenek; Liskova, Petra
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2023-10-017
OAAI
Corradi, Zelia; Khan, Mubeen; Hitti-Malin, Rebekkah; Mishra, Ketan; Whelan, Laura; Cornelis, Stephanie S.; Hoyng, Carel B.; Kampjarvi, Kati; Klaver, Caroline C. W.; Liskova, Petra; Stoehr, Heidi; Weber, Bernhard H. F.; Banfi, Sandro; Farrar, G. Jane; Sharon, Dror; Zernant, Jana; Allikmets, Rando; Dhaenens, Claire-Marie; Cremers, Frans P. M.

研究方向

暂未获取到该数据
Ľ
Ľubica Ďuďáková
H 指数:17论文数:92被引数:1,250
P
Pavlína Skalická
H 指数:13论文数:65被引数:619
A
Alison J. Hardcastle
H 指数:53论文数:272被引数:9,195
S
Stephen J. Tuft
H 指数:60论文数:298被引数:1.0万
A
Alice E. Davidson
H 指数:30论文数:108被引数:3,317
B
Bohdan Kousal
H 指数:11论文数:53被引数:473
K
Kateřina Jirsová
H 指数:28论文数:138被引数:2,492
N
Nikolas Pontikos
H 指数:43论文数:253被引数:7,798
J
Jana Jedličková
H 指数:4论文数:18被引数:111
A
Andrea L. Vincent
H 指数:25论文数:167被引数:2,941