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K

Karolina Kamińska

university hospital of basel
H指数:9
被引数:206

个人简介

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教育背景

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荣誉奖项

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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
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
2026-02-190
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
2026-01-090
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
COQ8 chaperones coenzyme Q lipid intermediates through ATP-driven structural gating

COQ8通过ATP驱动的结构门控介导辅酶Q脂质中间体的分子伴侣作用

Science Advances
IF12.5
2026-01-010
OAAI
Andrea Gottinger; Marco Malatesta; Callum R. Nicoll; Georg Ansari; Mathieu Quinodoz; Karolina Kamińska; Rachael W. C. Tang; Tien‐En Tan; Beau James Fenner; Pilar Barberán-Martínez; Gema García‐García; José María Millán; Maximilian Pfau; Natalie E Burbach; Domiziana Cecchini; Carlo Rivolta; Andrea Mattevi
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
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
2025-04-010
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
2025-03-010
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
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-12-131
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.
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment
NATURE COMMUNICATIONS
IF15.7
2024-11-210
OAAI
Zanetti, Andrea; Dujardin, Gwendal; Fares-Taie, Lucas; Amiel, Jeanne; Roger, Jerome E.; Audo, Isabelle; Robert, Matthieu P.; David, Pierre; Jung, Vincent; Goudin, Nicolas; Guerrera, Ida Chiara; Moriceau, Stephanie; Amana, Danielle; Assia Batzir, Nurit; Bachar-Zipori, Anat; Salmon, Lina Basel; Boddaert, Nathalie; Briault, Sylvain; Bruel, Ange-Line; Costet-Fighiera, Christine; Santos, Luisa Coutinho; Gitiaux, Cyril; Kaminska, Karolina; Kuentz, Paul; Orenstein, Naama; Philip-Sarles, Nicole; Plutino, Morgane; Quinodoz, Mathieu; Santos, Cristina; Sigaudy, Sabine; Soeiro e Sa, Mariana; Sofrin, Efrat; Sousa, Ana Berta; Sousa-Luis, Rui; Thauvin-Robinet, Christel; van Dijk, Erwin L.; Zaafrane-Khachnaoui, Khaoula; Zur, Dinah; Kaplan, Josseline; Rivolta, Carlo; Rozet, Jean-Michel; Perrault, Isabelle
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
2024-09-011
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
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration

UBAP1L的功能丧失变异导致常染色体隐性视网膜变性

GENETICS IN MEDICINE
IF6.2
2024-06-014
PRE
Han, Ji Hoon; Rodenburg, Kim; Hayman, Tamar; Calzetti, Giacomo; Kaminska, Karolina; Quinodoz, Mathieu; Marra, Molly; Wallerich, Sandrine; Allon, Gilad; Nagy, Zoltan Z.; Knezy, Krisztina; Li, Yumei; Chen, Rui; Barboni, Mirella Telles Salgueiro; Yang, Paul; Pennesi, Mark E.; van den Born, L. Ingeborgh; Varsanyi, Balazs; Szabo, Viktoria; Sharon, Dror; Banin, Eyal; Ben-Yosef, Tamar; Roosing, Susanne; Koenekoop, Robert K.; Rivolta, Carlo
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
2024-04-016
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
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa
JCI INSIGHT
IF6.1
2023-11-085
OA
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
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

多学科团队指导的全基因组测序分析揭示了分子未确诊的遗传性视网膜营养不良的致病非编码变异

HUMAN MOLECULAR GENETICS
IF3.2
2022-09-0912
OAAI
Varela, Malena Daich; Bellingham, James; Motta, Fabiana; Jurkute, Neringa; Ellingford, Jamie M.; Quinodoz, Mathieu; Oprych, Kathryn; Niblock, Michael; Janeschitz-Kriegl, Lucas; Kaminska, Karolina; Cancellieri, Francesca; Scholl, Hendrik P. N.; Lenassi, Eva; Schiff, Elena; Knight, Hannah; Black, Graeme; Rivolta, Carlo; Cheetham, Michael E.; Michaelides, Michel; Mahroo, Omar A.; Moore, Anthony T.; Webster, Andrew R.; Arno, Gavin

研究方向

暂未获取到该数据
C
Carlo Rivolta
H 指数:55论文数:292被引数:1.9万
M
Mathieu Quinodoz
H 指数:25论文数:111被引数:4,577
F
Francesca Cancellieri
H 指数:8论文数:25被引数:181
C
Carmen Ayuso
H 指数:68论文数:604被引数:1.8万
L
Luísa Coutinho Santos
H 指数:10论文数:23被引数:645
V
Veronika Vaclavik
H 指数:18论文数:86被引数:942
G
Giacomo Calzetti
H 指数:17论文数:61被引数:564
A
Andrew R. Webster
H 指数:76论文数:658被引数:2.2万
J
José M. Millán
H 指数:48论文数:232被引数:7,105
A
Ana Berta Sousa
H 指数:20论文数:90被引数:1,688