Ghent University Academic Bibliography

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

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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).
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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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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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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
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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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- 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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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations

Claudia Voigt, André Mégarbane, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert (UGent) , Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König, et al.

(2013) ORPHANET JOURNAL OF RARE DISEASES. 8.

Academic Bibliography

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

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

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

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

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations

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