J. Jähn

P. Striano, H. Muhle, I. Helbig, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Damian Smedley, Paul N. Schofield, Peter N. Robinson, 2014, Nucleic Acids Res..

Gene family information facilitates variant interpretation and identification of disease-associated genes

M. Daly, P. May, R. Krause, 2017, bioRxiv.

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

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

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

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

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

Structural genomic variants in pediatric seizure disorders

I. Helbig, J. Jähn, 2012, Journal of Pediatric Epilepsy.

The Human Phenotype Ontology in 2017

Tudor Groza, Damian Smedley, Peter N. Robinson, 2016, Nucleic Acids Res..

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

M. Daly, P. May, R. Krause, 2020, Genome Medicine.

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

U. Stephani, Manuela Pendziwiat, H. Muhle, 2018, American journal of human genetics.

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

Atypical Vitamin B6 Deficiency

U. Stephani, H. Muhle, R. Møller, 2014, Journal of child neurology.

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

U. Stephani, Manuela Pendziwiat, H. Muhle, 2018, American journal of human genetics.

CDKL5 Mutations as a Cause of Severe Epilepsy in Infancy

U. Stephani, H. Muhle, I. Helbig, 2013, Journal of child neurology.

Ingo Helbig and Long-term Course in 4 Patients Mutations as a Cause of Severe Epilepsy in Infancy : Clinical and Electroencephalographic CDKL 5

U. Stephani, H. Muhle, I. Helbig, 2012 .

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.

H. Mefford, P. May, R. Krause, 2017, American journal of human genetics.

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

author-version of: De novo variants in neurodevelopmental disorders with epilepsy

J. Serratosa, J. Kosmicki, Manuela Pendziwiat, 2022 .