Sarah Duerinckx
Brussels, BRU, Belgium
Last Updated: 09/26/2026
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Found 14 publications
Oligogenic inheritance in epilepsy: A systematic exome-wide analysis.
Journal: Epilepsia
Published: March 01, 2026
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.
Journal: American journal of human genetics
Published: February 11, 2025
Brain malformations and seizures by impaired chaperonin function of TRiC.
Journal: Science (New York, N.Y.)
Published: October 31, 2024
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Journal: Human genomics
Published: January 10, 2023
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Journal: Clinical genetics
Published: August 18, 2022
An exome-wide study of renal operational tolerance.
Journal: Frontiers in medicine
Published: June 23, 2022
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Journal: Molecular genetics & genomic medicine
Published: February 12, 2021
Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.
Journal: Molecular genetics & genomic medicine
Published: January 06, 2021
TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly.
Journal: Human molecular genetics
Published: September 11, 2020
Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1.
Journal: Molecular genetics & genomic medicine
Published: October 19, 2017
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Journal: Human mutation
Published: August 24, 2017
Last Updated: 09/26/2026