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European Journal of Neurology|June 18, 2022
GNA11-mutated Sturge-Weber syndrome has distinct neurological and dermatological featuresAnne Dompmartin, Carine J M van der Vleuten, Valérie Dekeuleneer, et al.
The Journal of Clinical Investigation|May 31, 2024
Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedemaPascal Brouillard, Aino Murtomäki, Veli-Matti Leppänen, et al.
European Journal of Pediatrics|January 15, 2013
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndromeHeidi Schaballie, Marleen Renard, Christiane Vermylen, et al.
American Journal of Medical Genetics. Part A|May 18, 2017
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemiaKriti D Khandelwal, Charlotte W Ockeloen, Hanka Venselaar, et al.
JCI Insight|November 8, 2023
Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformationsEmmanuel Seront, An Van Damme, Catherine Legrand, et al.
Human Genomics|March 1, 2023
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritanceValerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, et al.
Orphanet Journal of Rare Diseases|May 22, 2024
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCANicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, et al.
Science Translational Medicine|September 10, 2020
Characterization of ANGPT2 mutations associated with primary lymphedemaVeli-Matti Leppänen, Pascal Brouillard, Emilia A Korhonen, et al.
Journal of Medical Genetics|October 14, 2022
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasiaTessi Beyltjens, Eveline Boudin, Nicole Revencu, et al.
Human Molecular Genetics|April 27, 2024
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of functionMurat Alpaslan, Elodie Fastré, Sandrine Mestre, et al.
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