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Academic Bibliography

Search 200 years of publications by Ghent University researchers.

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Your filters: cql: author="Scala, Marcello" or (type any "bookEditor journalEditor issueEditor" and editor="Scala, M...

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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
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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Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function

Marcello Scala, Stephanie Efthymiou, Tipu Sultan, Jolien De Waele (UGent) , Marta Panciroli, Vincenzo Salpietro, Reza Maroofian, Pasquale Striano, Filip Van Petegem, Henry Houlden, et al.

(2021) EPILEPSIA. 62(6). p.E82-E87

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