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J

Julie De Zaeytijd

Ghent University
H指数:23
被引数:1,893

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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
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
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

揭示一个近亲婚配的伊朗队列中遗传性视网膜疾病的遗传结构

NPJ GENOMIC MEDICINE
IF4.8
2025-03-070
OA
Vincke, Lieselot; Van Schil, Kristof; Ahmadieh, Hamid; Moghaddasi, Afrooz; Sabbaghi, Hamideh; Daftarian, Narsis; Motevasseli, Tahmineh; Sheykhani, Leila Javanparast; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; De Zaeytijd, Julie; De Bruyne, Marieke; Mahieu, Quinten; Al-Hajj, Ebrahim; Del Pozo-Valero, Marta; Rosseel, Toon; Van Heetvelde, Mattias; Maroofian, Reza; Suri, Fatemeh; Bauwens, Miriam; De Baere, Elfride
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
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy
SCIENTIFIC REPORTS
IF3.9
2024-10-031
OAAI
de Muijnck, Cansu; Haer-Wigman, Lonneke; van Everdingen, Judith A. M.; Lushchyk, Tanya; Heutinck, Pam A. T.; van Dooren, Marieke F.; Kievit, Anneke J. A.; Verhoeven, Virginie J. M.; Simon, Marleen E. H.; Wasmann, Rosemarie A.; Notting, Irene C.; De Baere, Elfride; Walraedt, Sophie; De Zaeytijd, Julie; van den Broeck, Filip; Leroy, Bart P.; Boon, Camiel J. F.; van Genderen, Maria M.
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-11-0117
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
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial
NATURE MEDICINE
IF50
2022-04-0463
OAAI
Russell, Stephen R.; Drack, Arlene, V; Cideciyan, Artur, V; Jacobson, Samuel G.; Leroy, Bart P.; Van Cauwenbergh, Caroline; Ho, Allen C.; Dumitrescu, Alina, V; Han, Ian C.; Martin, Mitchell; Pfeifer, Wanda L.; Sohn, Elliott H.; Walshire, Jean; Garafalo, Alexandra, V; Krishnan, Arun K.; Powers, Christian A.; Sumaroka, Alexander; Roman, Alejandro J.; Vanhonsebrouck, Eva; Jones, Eltanara; Nerinckx, Fanny; De Zaeytijd, Julie; Collin, Rob W. J.; Hoyng, Carel; Adamson, Peter; Cheetham, Michael E.; Schwartz, Michael R.; den Hollander, Wilhelmina; Asmus, Friedrich; Platenburg, Gerard; Rodman, David; Girach, Aniz
X-Linked Retinoschisis Novel Clinical Observations and Genetic Spectrum in 340 Patients

X连锁视网膜劈裂症340患者的新临床观察和遗传谱

OPHTHALMOLOGY
IF9.5
2022-02-0136
OA
Hahn, Leo C.; Schooneveld, Mary J. van; Wesseling, Nieneke L.; Florijn, Ralph J.; Brink, Jacoline B. ten; Lissenberg-Witte, Birgit I.; Strubbe, Ine; Meester-Smoor, Magda A.; Thiadens, Alberta A.; Diederen, Roselie M.; van Cauwenbergh, Caroline; de Zaeytijd, Julie; Walraedt, Sophie; de Baere, Elfride; Klaver, Caroline C. W.; Norel, Jeannette Ossewaarde-van; Born, L. Ingeborgh van den; Hoyng, Carel B.; Genderen, Maria M. van; Sieving, Paul A.; Leroy, Bart P.; Bergen, Arthur A.; Boon, Camiel J. F.
New variants and in silico analyses in GRK1 associated Oguchi disease
HUMAN MUTATION
IF3.7
2020-11-307
OAAI
Poulter, James A.; Gravett, Molly S. C.; Taylor, Rachel L.; Fujinami, Kaoru; De Zaeytijd, Julie; Bellingham, James; Rehman, Atta Ur; Hayashi, Takaaki; Kondo, Mineo; Rehman, Abdur; Ansar, Muhammad; Donnelly, Dan; Toomes, Carmel; Ali, Manir; De Baere, Elfride; Leroy, Bart P.; Davies, Nigel P.; Henderson, Robert H.; Webster, Andrew R.; Rivolta, Carlo; Mahroo, Omar A.; Arno, Gavin; Black, Graeme C. M.; McKibbin, Martin; Harris, Sarah A.; Khan, Kamron N.; Inglehearn, Chris F.
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56
SCIENTIFIC REPORTS
IF3.9
2020-01-2827
OAAI
Almoallem, Basamat; Arno, Gavin; De Zaeytijd, Julie; Verdin, Hannah; Balikova, Irina; Casteels, Ingele; de Ravel, Thomy; Hull, Sarah; Suzani, Martina; Destree, Anne; Peng, Michelle; Williams, Denise; Ainsworth, John R.; Webster, Andrew R.; Leroy, Bart P.; Moore, Anthony T.; De Baere, Elfride

研究方向

暂未获取到该数据
B
Bart P. Leroy
H 指数:55论文数:380被引数:1.3万
E
Elfride De Baere
H 指数:60论文数:435被引数:1.2万
C
Caroline Van Cauwenbergh
H 指数:23论文数:63被引数:1,560
F
Frauke Coppieters
H 指数:25论文数:154被引数:3,451
C
Carel B. Hoyng
H 指数:91论文数:507被引数:3.0万
T
Toon Rosseel
H 指数:19论文数:101被引数:974
M
Miriam Bauwens
H 指数:18论文数:75被引数:1,254
A
Andrew R. Webster
H 指数:76论文数:658被引数:2.2万
M
Mary J. van Schooneveld
H 指数:35论文数:112被引数:4,138
O
Olivier Vanakker
H 指数:34论文数:176被引数:3,825