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Research Interests

Papers共 85 篇Author StatisticsCo-AuthorSimilar Experts

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Bi-allelic Variants in Three Genes Encoding Distinct Subunits of the Vesicular AP-5 Complex Cause Hereditary Macular Dystrophy
Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R Moye, Miriam Bauwens,Siying Lin, Lucas Janeschitz-Kriegl, Tamar Hayman, Pilar Barberán-Martínez,Regina Schlaeger, Filip Van den Broeck,Almudena Ávila Fernández, Lidia Fernández-Caballero, Irene Perea-Romero,Gema García-García,David Salom, Pascale Mazzola, Theresia Zuleger, Karin Poths,Tobias B Haack,Julie Jacob,Sascha Vermeer, Frédérique Terbeek, Nicolas Feltgen, Alexandre P Moulin, Louisa Koutroumanou, George Papadakis,Andrew C Browning, Savita Madhusudhan, Lotta Gränse,Eyal Banin,Ana Berta Sousa, Luisa Coutinho Santos, Laura Kuehlewein, Pietro De Angeli,Bart P Leroy,Omar A Mahroo, Fay Sedgwick, James Eden,Maximilian Pfau,Sten Andréasson,Hendrik P N Scholl,Carmen Ayuso,José M Millán,Dror Sharon,Miltiadis K Tsilimbaris,Veronika Vaclavik, Hoai V Tran, Tamar Ben-Yosef,Elfride De Baere,Andrew R Webster,Gavin Arno,Panagiotis I Sergouniotis,Susanne Kohl,Cristina Santos,Carlo Rivolta
American journal of human geneticsno. 4 (2025): 808-828
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RPE65 Variant P.(e519k) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals
Eline Van Vooren, Filip Van den Broeck, Quinten Mahieu, Eline Geens, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele,Sheetal Uppal,Eugenia Poliakov,Claire-Marie Dhaenens, Cheryl Y Gregory-Evans, Lies Hoefsloot, Adriana Iglesias Gonzalez,Susanne Kohl, Theresia Zuleger, Tanguy Demaret, Dominant RPE6-p.(E51K) Consortium, Sari Tuupanen, Joke Ruys, Luc Van Os, Elise Platteau,Julie Jacob,Sascha Vermeer,Laurence Postelmans,Karin Dahan,Isabelle Maystadt, Florence Rasquin,Alberta A H J Thiadens,Kirk A J Stephenson, Narin Sheri,Vasily Smirnov, Ian M MacDonald, Kevin Gregory-Evans,T Michael Redmond, Julie De Zaeytijd, Bart P Leroy, Miriam Bauwens,Elfride De Baere
Research square (2025)
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Correction To: PHARC Syndrome: an Overview
Lusine Harutyunyan, Patrick Callaerts,Sascha Vermeer
Orphanet Journal of Rare Diseasesno. 1 (2025): 1-4
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A Case of Chorea with Slow Saccades Caused by NKX2-1 Mutation
Johanna Vercammen,Joke Terryn,Sien Van Daele,Sascha Vermeer,Wim Vandenberghe
Movement Disorders Clinical Practice (2024)
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PHARC Syndrome: an Overview
Lusine Harutyunyan, Patrick Callaerts,Sascha Vermeer
Orphanet Journal of Rare Diseasesno. 1 (2024): 1-19
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Author Statistics

#Papers: 85

#Citation: 3629

H-Index: 25

G-Index: 54

Sociability: 7

Diversity: 3

Activity: 5

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