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Publications by Peter De Jonghe

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

American Journal of Human Genetics

English

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

American Journal of Human Genetics

English

Biallelic VARS Variants Cause Developmental Encephalopathy With Microcephaly That Is Recapitulated in Vars Knockout Zebrafish

Nature Communications

Molecular Biology

English

Re-Annotation of 191 Developmental and Epileptic Encephalopathy-Associated Genes Unmasks De Novo Variants in SCN1A

npj Genomic Medicine

Molecular Biology

English

Loss of Paraplegin Drives Spasticity Rather Than Ataxia in a Cohort of 241 Patients With SPG7

English

Delineating the GRIN1 Phenotypic Spectrum

English

Cover Image, Volume 39, Issue 3

English

Pitfalls in Genetic Testing: The Story of missedSCN1Amutations

Molecular genetics & genomic medicine

Molecular Biology

English

Hot-Spot Residue in Small Heat-Shock Protein 22 Causes Distal Motor Neuropathy

Nature Genetics

English

De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

American Journal of Human Genetics

English