Area of research
Genetics · Cellular and Molecular Neuroscience
Research interest
Research interests include Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Hereditary Neurological Disorders, and Epilepsy research and treatment.
Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing
Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
The different clinical facets of SYN1-related neurodevelopmental disorders
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): from clinical diagnosis towards genetic testing
Genome-wide Association Study identifies two novel loci for Gilles de la Tourette Syndrome
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice
Lessons learned from 40 novel <i>PIGA</i> patients and a review of the literature
Variants in the SK2 channel gene (<i>KCNN2</i>) lead to dominant neurodevelopmental movement disorders
Damaging de novo missense variants in<i>EEF1A2</i>lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy
De novo heterozygous missense and loss‐of‐function variants in <i>CDC42BPB</i> are associated with a neurodevelopmental phenotype
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophy
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder
<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
<i>DCC</i>mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome