Dr. Katja Boysen
Honorary
Paediatrics Royal Children's Hospital
12 Scholarly works
0 Projects
HIGHLIGHTS
2020
Journal article
Neuronal Ceroid Lipofuscinosis type 2: an Australian case series
DOI: 10.1111/jpc.148902019
Journal article
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures
DOI: 10.1111/dmcn.144282019
Journal article
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures
DOI: 10.1002/ana.256192019
Journal article
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
DOI: 10.1038/s41467-019-10910-w2019
Journal article
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias (vol 103, pg 666, 2018)
DOI: 10.1016/j.ajhg.2019.02.0152018
Journal article
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
DOI: 10.1038/s41467-018-07524-z2018
Journal article
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
DOI: 10.1016/j.ajhg.2018.09.006
RECENT SCHOLARLY WORKS
2013
Journal article
Inhibitor of cysteine proteases is critical for motility and infectivity of Plasmodium sporozoites.
DOI: 10.1128/mBio.00874-132011
Journal article
Arrested oocyst maturation in Plasmodium parasites lacking type II NADH:ubiquinone dehydrogenase.
DOI: 10.1074/jbc.M111.2693992011
Journal article
Expression of P. falciparum var Genes Involves Exchange of the Histone Variant H2A.Z at the Promoter
DOI: 10.1371/journal.ppat.10012922011
Journal article
Expression of P.falciparum var Genes Involves Exchange of the Histone Variant H2A.Z at the Promoter
DOI: 10.1371/journal.ppat.10012922006
Journal article
Transcribed var genes associated with placental malaria in Malawian women
DOI: 10.1128/IAI.01978-05