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Publications by Simon Edvardson

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated With a TMEM216 Mutation

American Journal of Human Genetics

English

Heterozygous RNF13 Gain-Of-Function Variants Are Associated With Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive

American Journal of Human Genetics

English

Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy

American Journal of Human Genetics

English

A Defect in the Retromer Accessory Protein, SNX27, Manifests by Infantile Myoclonic Epilepsy and Neurodegeneration

Molecular Neuroscience

English

Erratum To: PARP10 Deficiency Manifests by Severe Developmental Delay and DNA Repair Defect

Molecular Neuroscience

English

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

American Journal of Human Genetics

English