Ghent University Academic Bibliography

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ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures

Elena Poggio, Lucia Barazzuol, Andrea Salmaso, Celeste Milani, Adamantia Deligiannopoulou, Ángeles García Cazorla, Se Song Jang, Natalia Juliá-Palacios, Boris Keren, Robert Kopajtich, et al.

(2023) GENETICS IN MEDICINE. 25(12).
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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
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
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Marcello Scala, Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Tayyaba Khan, Andrea Accogli, Laura Davids, Anna Ruiz, Pietro Chiurazzi, Gabriella Cericola, et al.

(2022) BRAIN. 145(9). p.3308-3327
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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
- open access
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (vol 21, pg 1319, 2019)

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(4).
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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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Interpreting genetic variants in titin in patients with muscle disorders

Marco Savarese, Lorenzo Maggi, Anna Vihola, Per Harald Jonson, Giorgio Tasca, Lucia Ruggiero, Luca Bello, Francesca Magri, Teresa Giugliano, Annalaura Torella, et al.

(2018) JAMA NEUROLOGY. 75(5). p.557-565
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The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients

Marco Savarese, Giuseppina Di Fruscio, Annalaura Torella, Chiara Fiorillo, Francesca Magri, Marina Fanin, Lucia Ruggiero, Giulia Ricci, Guja Astrea, Luigia Passamano, et al.

(2016) NEUROLOGY. 87(1). p.71-76

Academic Bibliography

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures

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

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

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

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

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (vol 21, pg 1319, 2019)

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

Interpreting genetic variants in titin in patients with muscle disorders

The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients

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