Nicole Revencu
14PUBLICATIONS
201CO-AUTHORS
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Publications (14)
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|Dec 22, 2025
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft.Peyman Ranji, Eleonore Pairet, Raphael Helaers
|Jul 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.Yuyang Chen, Ruebena Dawes, Hyung Chul Kim
|May 22, 2024
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart
|May 15, 2024
Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus.Emmanuel Seront, Antoine Froidure, Nicole Revencu
|Apr 27, 2024
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.Murat Alpaslan, Elodie Fastré, Sandrine Mestre
|Mar 27, 2024
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.Josephina A N Meester, Anne Hebert, Maaike Bastiaansen
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Frequent Collaborators
9 joint publications
Miikka Vikkula
5 joint publications
Laurence M Boon
4 joint publications
Pascal Brouillard
3 joint publications
Raphael Helaers
2 joint publications
Eulalia Baselga
2 joint publications
Tobias Haack
2 joint publications
Dana Dumitriu
2 joint publications
Cinzia Lavarino
2 joint publications
Valérie Dekeuleneer
2 joint publications
Yves Sznajer
