H. Trucks

发表

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.

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement

P. Striano, F. Zara, F. Santorelli, 2013, Journal of Neurology.

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy

Holger Lerche, Peter Nürnberg, Andre Franke, 2013, Epilepsia.

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.

C. Baker, H. Mefford, E. Eichler, 2010, Brain : a journal of neurology.

Erratum: Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy (Epilepsia (2013) 54 (256-264) DOI:10.1111/epi.12517)

H. Mefford, C. Elger, A. Scabar, 2013 .

A common SCN1A splice‐site polymorphism modifies the effect of carbamazepine on cortical excitability—A pharmacogenetic transcranial magnetic stimulation study

Sebastian Bauer, Stephanie Schorge, Susanne Knake, 2014, Epilepsia.

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

Michael R. Johnson, I. Scheffer, D. Goldstein, 2014, The Lancet Neurology.

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

C. Gieger, I. Scheffer, T. Wienker, 2012, Human molecular genetics.

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.

I. Scheffer, H. Mefford, E. Eichler, 2009, Human molecular genetics.

Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy

H. Mefford, H. Wichmann, U. Stephani, 2013, Epilepsia.

Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

S. Noachtar, C. Vollmar, P. Nürnberg, 2014, Neurobiology of Disease.

Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

I. Scheffer, C. Elger, R. Kaneva, 2012, Epilepsia.

Association mapping of genomic microdeletions and common susceptibility variants predisposing to genetic generalized epilepsies

H. Trucks, 2013 .

Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I

F. Zara, C. Bruno, R. Biancheri, 2014, Clinical genetics.

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta

O. Steinlein, H. Trucks, T. Sander, 2011, BMC Medical Genetics.

Genome-wide Association Analysis of Genetic Generalized Epilepsies Implicates Susceptibility Loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 Epicure Consortium

C. Gieger, I. Scheffer, T. Wienker, 2022 .