Arvid Suls

发表

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

Patrick May, Christel Depienne, Ingo Helbig, 2016, Brain : a journal of neurology.

Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

Christian Gieger, Holger Lerche, Ulrich Stephani, 2015, PLoS genetics.

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Oriane Trouillard, Christel Depienne, Emmanuel Roze, 2014, Nature Genetics.

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Lieven Lagae, Berten Ceulemans, Liesbet Deprez, 2012, Annals of neurology.

On the feasibility of mining CD8+ T cell receptor patterns underlying immunogenic peptide recognition

Wout Bittremieux, Aida Mrzic, Kris Laukens, 2017, Immunogenetics.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Maja Steinlin, Markus Wolff, Holger Lerche, 2015, Nature Genetics.

GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy

Markus Wolff, Saskia Biskup, M. Schwake, 2014, Annals of neurology.

Memory CD4+ T cell receptor repertoire data mining as a tool for identifying cytomegalovirus serostatus

Kris Laukens, Niel Hens, Benson Ogunjimi, 2018, Genes & Immunity.

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

Holger Lerche, Renzo Guerrini, Christel Depienne, 2013, American journal of human genetics.

Transcriptome profiling in blood before and after hepatitis B vaccination shows significant differences in gene expression between responders and non-responders.

Kris Laukens, Niel Hens, Benson Ogunjimi, 2018, Vaccine.

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

Kenneth D. Mandl, Allison P. Heath, Eric Marsh, 2019, American journal of human genetics.