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Orphanet Journal of Rare Diseases|October 17, 2008
Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)Julie Desir, Marc AbramowiczShock (Augusta, Ga.)|May 12, 2012
Sex differences in inflammatory cytokines and CD99 expression following in vitro lipopolysaccharide stimulationNicolas Lefèvre, Francis Corazza, Jean Duchateau, et al.American Journal of Medical Genetics. Part A|May 3, 2008
Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natallyJulie Desir, Marie Cassart, Philippe David, et al.Journal of Medical Genetics|January 16, 2007
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophyJulie Desir, Graciela Moya, Orit Reish, et al.Human Molecular Genetics|November 18, 2020
TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegalyValerie Jacquemin, Mathieu Antoine, Sarah Duerinckx, et al.Ophthalmic Genetics|March 12, 2019
Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American familiesPablo T Romero, Rodrigo Donoso, Pamela López, et al.Human Molecular Genetics|September 18, 2012
Kinetochore KMN network gene CASC5 mutated in primary microcephalyAnne Genin, Julie Desir, Nelle Lambert, et al.European Journal of Medical Genetics|September 16, 2022
An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiencyRim Sakka, Fatma Abdelhedi, Hanen Sellami, et al.American Journal of Human Genetics|June 8, 2022
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndromeVardha Ismail, Linda G Zachariassen, Annie Godwin, et al.European Journal of Medical Genetics|February 19, 2014
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challengesOlivier Vanakker, Catheline Vilain, Katrien Janssens, et al.Pageof 2