Ghent University Academic Bibliography

Your filters: cql: author="Vissers, Lisenka E. L. M." or (type any "bookEditor issueEditor" and editor="Vissers, Lis...

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Mobile element insertions in rare diseases : a comparative benchmark and reanalysis of 60,000 exome samples

Robin Wijngaard, German Demidov, Luke O'Gorman, Jordi Corominas-Galbany, Burcu Yaldiz, Wouter Steyaert (UGent) , Elke de Boer, Lisenka E. L. M. Vissers, Erik-Jan Kamsteeg, Rolph Pfundt, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. 32(2). p.200-208
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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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Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

Elke de Boer, Burcu Yaldiz, Anne-Sophie Denomme-Pichon, Leslie Matalonga, Steve Laurie, Wouter Steyaert (UGent) , Rick de Reuver, Christian Gilissen, Michael Kwint, Rolph Pfundt, et al.

(2022) EUROPEAN JOURNAL OF MEDICAL GENETICS. 65(1).
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, et al.

(2021) GENOME MEDICINE. 13(1).

Academic Bibliography

Mobile element insertions in rare diseases : a comparative benchmark and reanalysis of 60,000 exome samples

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

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

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