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Human Mutation|February 24, 2015
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesisDelfien Syx, Tim Van Damme, Sofie Symoens, et al.
European Journal of Human Genetics : EJHG|January 27, 2025
RNA-sequencing unveils FLT4 splice site variants in variable congenital heart diseaseMaxim Verlee, Erika D'haenens, Laurenz De Cock, et al.
Breast Cancer Research : BCR|May 18, 2016
Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutationAnnelot Baert, Julie Depuydt, Tom Van Maerken, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2016
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis typeTim Van Damme, Alain Colige, Delfien Syx, et al.
Human Mutation|March 19, 2021
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndromeTibbe Dhooge, Tim Van Damme, Delfien Syx, et al.
American Journal of Human Genetics|May 14, 2013
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorderFransiska Malfait, Ariana Kariminejad, Tim Van Damme, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 18, 2017
The Ehlers-Danlos syndromes, rare typesAngela F Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, et al.
Human Molecular Genetics|June 23, 2018
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndromeTim Van Damme, Xiaomeng Pang, Brecht Guillemyn, et al.
Human Mutation|July 26, 2012
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxaBert Callewaert, Chi-Ting Su, Tim Van Damme, et al.
European Journal of Human Genetics : EJHG|July 12, 2024
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlationsEva Vanbelleghem, Tim Van Damme, Aude Beyens, et al.
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