Hilde Van Esch
12PUBLICATIONS
99CO-AUTHORS
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Publications (12)
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|Jan 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer
|Nov 13, 2024
Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome.Lisanne Vervoort, Nicolas Dierckxsens, Marta Sousa Santos
|Apr 02, 2024
Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome.Lisanne Vervoort, Nicolas Dierckxsens, Marta Sousa Santos
|Aug 17, 2023
Dealing with ambivalence in the practice of advanced genetic healthcare: towards an ethical choreography.Janneke M L Kuiper, Pascal Borry, Danya F Vears
|Aug 09, 2023
Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.Guido Zagnoli-Vieira, Jan Brazina, Kris Van Den Bogaert
|Aug 07, 2023
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.Alexander J M Dingemans, Max Hinne, Kim M G Truijen
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Frequent Collaborators
3 joint publications
Anne-Sophie Denomme-Pichon
2 joint publications
Pierre-Yves Maillard
2 joint publications
Janneke M L Kuiper
2 joint publications
Pascal Borry
2 joint publications
Danya F Vears
2 joint publications
Ine Van Hoyweghen
2 joint publications
Antonio Vitobello
2 joint publications
Frederic Tran-Mau-Them
2 joint publications
Mariette J V Hoffer
2 joint publications
Lisenka E L M Vissers
