Publications
Prevalence of microcephaly and Zika virus infection in a pregnancy cohort in Kenya, 2017-2019 Institute of Tropical Medicine
BACKGROUND: Zika virus (ZIKV), first discovered in Uganda in 1947, re-emerged globally in 2013 and was later associated with microcephaly and other birth defects. We determined the incidence of ZIKV infection and its association with adverse pregnancy and fetal outcomes in a pregnancy cohort in Kenya.
METHODS: From October 2017 to July 2019, we recruited and followed up women aged ≥ 15 years and ≤ 28 weeks pregnant in three hospitals ...
Kinetochore KMN network gene CASC5 mutated in primary microcephaly Vrije Universiteit Brussel University of Antwerp
Several genes expressed at the centrosome or spindle pole have been reported to underlie autosomal recessive primary microcephaly (MCPH), a neurodevelopmental disorder consisting of an important brain size reduction present since birth, associated with mild-to-moderate mental handicap and no other neurological feature nor associated malformation. Here, we report a mutation of CASC5 (aka Blinkin, or KNL1, or hSPC105) in MCPH patients from ...
7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly Ghent University
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly University of Antwerp KU Leuven Vrije Universiteit Brussel Ghent University
Mutations in **KIF11** cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy University of Antwerp
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion Vrije Universiteit Brussel KU Leuven
Genomic rearrangements are an increasingly recognized mechanism of human phenotypic variation and susceptibility to disease. Sotos syndrome is characterized by overgrowth, macrocephaly, developmental delay and advanced osseous maturation. Haploinsufficiency of NSD1, caused by inactivating point mutations or deletion copy number variants, is the only known cause of Sotos syndrome. A recurrent 2 Mb deletion has been described with variable ...
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome Vrije Universiteit Brussel KU Leuven
BACKGROUND: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11, which encodes a homotetrameric ...