Ghent University Academic Bibliography

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

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- Journal Article
- open access
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies

Lude Moekotte, Joke H. de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan-Thanh-An Nguyen, Carel B. Hoyng, Chris F. Inglehearn, Martin Mckibbin, Tina M. Lamey, Jennifer A. Thompson, et al.

(2025) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 66(2).
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- 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)
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- 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.
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- 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).
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- 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).
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- Journal Article
- A1
- open access
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stephanie S. Cornelis, Marta Del Pozo-Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere (UGent) , et al.

(2020) GENETICS IN MEDICINE. 22(7). p.1235-1246
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- Journal Article
- A1
- open access
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Stijn Van de Sompele (UGent) , Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil (UGent) , Frank Peelman (UGent) , Timothy Cherry, Toon Rosseel (UGent) , Hannah Verdin (UGent) , Julien Derolez, et al.

(2019) GENETICS IN MEDICINE. 21(6). p.1319-1329
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- Miscellaneous
Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Marta del Pozo-Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTabishi, Elfride De Baere (UGent) , et al.

(2019) bioRxiv.
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- Conference Paper
- C3
Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease

Stijn Van de Sompele (UGent) , Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil (UGent) , Frank Peelman (UGent) , Timothy Cherry, Toon Rosseel (UGent) , Hannah Verdin (UGent) , Julien Derolez, et al.

(2018) American Society of Human Genetics, Annual meeting, Abstracts.
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Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Nicole TM Saksens, Mark P Krebs, Frederieke E Schoenmaker-Koller, Wanda Hicks, Minzhong Yu, Lanying Shi, Lucy Rowe, Gayle B Collin, Jeremy R Charette, Stef J Letteboer, et al.

(2016) NATURE GENETICS. 48(2). p.144-151

Academic Bibliography

Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies

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

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

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

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