Ghent University Academic Bibliography

Your filters: cql: author="Hoischen, Alexander" or (type any "bookEditor issueEditor" and editor="Hoischen, Alexander")

Add to list
- Journal Article
- A1
- open access
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E. de Bruijn, Ana Belen Iglesias-Romero, Erica G. M. Boonen, Mukhtar Ullah, Nick Zomer, Marc Folcher, et al.

(2026) NATURE GENETICS. 58(1). p.169-179
Add to list
- Journal Article
- A1
- open access
Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches

Merel Stemerdink, Tabea Riepe, Nick Zomer, Renee Salz, Michael Kwint, Jaap Oostrik, Raoul Timmermans, Barbara Ferrari, Stefano Ferrari, Alfredo Dueñas Rey, et al.

(2025) GENOME RESEARCH. 35(4). p.725-739
Add to list
- Miscellaneous
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

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, et al.

(2025) medRxiv.
Add to list
MIP4IBD : an easy and rapid genotyping-by-sequencing assay for the inflammatory bowel diseases risk loci

Sare Verstockt, Laurens Hannes, Deborah Sarah Jans, Stephanie Deman, Erika Souche, Ilse van der Werf, Liv Vandermeulen, Triana Lobatón Ortega (UGent) , Debby Laukens (UGent) , Bram Verstockt, et al.

(2024) INFLAMMATORY BOWEL DISEASES. 31(3). p.786-799
Add to list
- Journal Article
- A1
- open access
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Wouter Steyaert (UGent) , Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer, Juliet Hampstead, Elke de Boer, Alexander Stegmann, Helger Yntema, Erik-Jan Kamsteeg, et al.

(2023) NATURE COMMUNICATIONS. 14(1).
Add to list
- Journal Article
- A1
- open access
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere (UGent) , et al.

(2023) FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. 11.
Add to list
- Journal Article
- A1
- open access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.

(2023) HUMAN GENOMICS. 17(1).
Add to list
- Journal Article
- A1
- open access
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, et al.

(2023) GENETICS IN MEDICINE. 25(4).
Add to list
- Journal Article
- A1
- open access
Clonal hematopoiesis is associated with low CD4 nadir and increased residual HIV transcriptional activity in virally suppressed individuals with HIV

Wouter A. van der Heijden, Rosanne C. van Deuren, Lisa van de Wijer, Inge C. L. van den Munckhof, Marloes Steehouwer, Niels P. Riksen, Mihai G. Netea, Quirijn de Mast, Linos Vandekerckhove (UGent) , Richarda M. de Voer, et al.

(2022) JOURNAL OF INFECTIOUS DISEASES. 225(8). p.1339-1347
Add to list
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis

Allan Thomas Højland, Lisse J. M. Tavernier, Isabelle Schrauwen, Manou Sommen, Vedat Topsakal, Isabelle Schatteman, Ingeborg Dhooge (UGent) , Alex Huber, Diego Zanetti, Henricus P. M. Kunst, et al.

(2022) HUMAN GENETICS. 141. p.951-963

Academic Bibliography

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

MIP4IBD : an easy and rapid genotyping-by-sequencing assay for the inflammatory bowel diseases risk loci

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Clonal hematopoiesis is associated with low CD4 nadir and increased residual HIV transcriptional activity in virally suppressed individuals with HIV

A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis

Contents

Support

Contact