Author

Marc H. M. L. Gewillig

Universitair Ziekenhuis LeuvenORCID 0000-0002-4595-5922Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:gene regulatory network inference· 1 Organism:zebrafish· 1

Frequent Co-Authors

J. David BrookiD· 2 shared Jeroen BreckpotiD· 2 shared Alejandro SifrimiD· 1 shared Alex Vincent PostmaiD· 1 shared Ana TöpfiD· 1 shared Anna WilsdoniD· 1 shared Barbara J.M. MulderiD· 1 shared Bernard D. KeavneyiD· 1 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetics

J. David BrookORCID

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2 papers

Recent·Most cited

Systems genetics analysis identify calcium signalling defects as novel cause of congenital heart disease

José M. G. Izarzugaza, Sabrina Gade Ellesøe, Canan Doğanlı, Natasja Spring Ehlers, Marlene Dalgaard, Enrique Audain, Gregor Dombrowsky, Alejandro Sifrim, Anna Wilsdon, Bernard Thienpont, Jeroen Breckpot, Marc H. M. L. Gewillig, Competence Network for Congenital Heart Defects, Germany, J. David Brook, Marc‐Phillip Hitz, , Søren Brunak

The paper identifies calcium signalling defects as a novel cause of congenital heart disease through whole exome sequencing and functional validation in zebrafish.

bioRxiv · Dec 11, 2019 · PreprintGenetics

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

Donna J. Page, Matthieu J. Miossec, Simon G. Williams, Elisavet Fotiou, Richard M. Monaghan, Heather Jane Cordell, Louise Sutcliffe, Ana Töpf, Mathieu Bourgey, Guillaume Bourque, Robert J. M. Eveleigh, Sally L. Dunwoodie, David Scott Winlaw, Shoumo Bhattacharya, Jeroen Breckpot, , Bernard D. Keavney

The paper identifies NOTCH1 variants as a major genetic contributor to non-syndromic Tetralogy of Fallot, with 6% of patients carrying deleterious variants.

bioRxiv · Apr 13, 2018 · PreprintGenetics