Ghent University Academic Bibliography

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

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vincente A Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith, Charlotte L Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, et al.

(2022) GENOME MEDICINE. 14(1).
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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser, Grace M. Anbouba, Amy Armstrong-Javors, Ingrid Bader, Evan Baugh, Amber Begtrup, Caleb P. Bupp, Bert Callewaert (UGent) , et al.

(2021) GENETICS IN MEDICINE. 23(2). p.384-395
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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility

Giulia Ascari (UGent) , Frank Peelman (UGent) , Pietro Farinelli, Toon Rosseel (UGent) , Nina Lambrechts, Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova (UGent) , et al.

(2020) HUMAN MUTATION. 41(5). p.998-1011
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De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism

Illja J Diets, Roos van der Donk, Kristina Baltrunaite, Esmé Waanders, Margot RF Reijnders, Alexander JM Dingemans, Rolph Pfundt, Anneke T Vulto-van Silfhout, Laurens Wiel, Christian Gilissen, et al.

(2019) AMERICAN JOURNAL OF HUMAN GENETICS. 104(4). p.758-766

Academic Bibliography

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility

De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism

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