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American Journal of Medical Genetics. Part A|March 19, 2016
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and functionRuth Sheffer, Liza Douiev, Simon Edvardson, et al.Orphanet Journal of Rare Diseases|September 22, 2012
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiencyAndreas Ohlenbusch, Simon Edvardson, Johannes Skorpen, et al.American Journal of Human Genetics|September 12, 2007
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasiaSimon Edvardson, Avraham Shaag, Olga Kolesnikova, et al.Neurogenetics|August 3, 2019
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic featuresBassam Abu-Libdeh, Motee Ashhab, Maher Shahrour, et al.American Journal of Human Genetics|January 9, 2008
C6ORF66 is an assembly factor of mitochondrial complex IAnn Saada, Simon Edvardson, Matan Rapoport, et al.Journal of Medical Genetics|October 9, 2012
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalusAnais Drielsma, Chaim Jalas, Nicolas Simonis, et al.European Journal of Human Genetics : EJHG|May 1, 2014
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathyUlla Najwa Abdulhag, Devorah Soiferman, Ora Schueler-Furman, et al.Journal of Medical Genetics|May 22, 2016
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduriaHanna Mandel, Shotaro Saita, Simon Edvardson, et al.Journal of Medical Genetics|January 23, 2013
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathySimon Edvardson, Shimrit Oz, Fida Aziz Abulhijaa, et al.Neurogenetics|November 18, 2015
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerizationSimon Edvardson, Haibo Wang, Talya Dor, et al.Pageof 8