The dose makes the poison—Novel insights into Dravet syndrome and SCN1A regulation through nonproductive splicing

por Helbig, Ingo, Goldberg, Ethan
Publicado 2021

CNVineta: a data mining tool for large case–control copy number variation datasets

por Wittig, Michael, Helbig, Ingo, Schreiber, Stefan, Franke, Andre
Publicado 2010

Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis

por Wang, Robert, Helbig, Ingo, Edmondson, Andrew C, Lin, Lan, Xing, Yi
Publicado 2023

KCNC2 variants of uncertain significance are also associated to various forms of epilepsy

por Seiffert, Simone, Pendziwiat, Manuela, Hedrich, Ulrike B. S., Helbig, Ingo, Weber, Yvonne, Schwarz, Niklas
Publicado 2023

Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records

por Havrilla, James Margolin, Zhao, Mengge, Liu, Cong, Weng, Chunhua, Helbig, Ingo, Bhoj, Elizabeth, Wang, Kai
Publicado 2021

Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature

por Schaare, Donna, Sarasua, Sara M., Lusk, Laina, Parthasarathy, Shridhar, Wang, Liangjiang, Helbig, Ingo, Boccuto, Luigi
Publicado 2023

In vivo evidence for the involvement of the carboxy terminal domain in assembling connexin 36 at the electrical synapse

por Helbig, Ingo, Sammler, Esther, Eliava, Marina, Bolshakov, Alexey P., Rozov, Andrei, Bruzzone, Roberto, Monyer, Hannah, Hormuzdi, Sheriar Gustad
Publicado 2010

Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning

por Boßelmann, Christian Malte, Hedrich, Ulrike B.S., Müller, Peter, Sonnenberg, Lukas, Parthasarathy, Shridhar, Helbig, Ingo, Lerche, Holger, Pfeifer, Nico
Publicado 2022

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome

por Muhle, Hiltrud, Mefford, Heather C, Obermeier, Tanja, von Spiczak, Sarah, Eichler, Evan E, Stephani, Ulrich, Sander, Thomas, Helbig, Ingo
Publicado 2011

PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care

por Havrilla, James M., Singaravelu, Anbumalar, Driscoll, Dennis M., Minkovsky, Leonard, Helbig, Ingo, Medne, Livija, Wang, Kai, Krantz, Ian, Desai, Bimal R.
Publicado 2022

Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus

por deCampo, Danielle, Xian, Julie, Karlin, Alexis, Sullivan, Katie R., Ruggiero, Sarah M., Galer, Peter, Ramos, Mark, Abend, Nicholas S., Gonzalez, Alex, Helbig, Ingo
Publicado 2023

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

por Buchert, Rebecca, Nesbitt, Addie I., Tawamie, Hasan, Krantz, Ian D., Medne, Livija, Helbig, Ingo, Matalon, Dena R., Reis, André, Santani, Avni, Sticht, Heinrich, Abou Jamra, Rami
Publicado 2016

Leveraging electronic medical record-embedded standardised electroencephalogram reporting to develop neonatal seizure prediction models: a retrospective cohort study

por McKee, Jillian L, Kaufman, Michael C, Gonzalez, Alexander K, Fitzgerald, Mark P, Massey, Shavonne L, Fung, France, Kessler, Sudha K, Witzman, Stephanie, Abend, Nicholas S, Helbig, Ingo
Publicado 2023

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation

por Ganesan, Shiva, Galer, Peter D., Helbig, Katherine L., McKeown, Sarah E., O’Brien, Margaret, Gonzalez, Alexander K., Felmeister, Alex S., Khankhanian, Pouya, Ellis, Colin A., Helbig, Ingo
Publicado 2020

Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci

por Saadati, Hamid Reza, Wittig, Michael, Helbig, Ingo, Häsler, Robert, Anderson, Carl A., Mathew, Christopher G., Kupcinskas, Limas, Parkes, Miles, Karlsen, Tom Hemming, Rosenstiel, Philip, Schreiber, Stefan, Franke, Andre
Publicado 2016

Early life seizures and epileptic spasms in STXBP1-related disorders

por Thalwitzer, Kim M, Xian, Julie, deCampo, Danielle, Parthasarathy, Shridhar, Magielski, Jan, Sullivan, Katie Rose, Goss, James, Rigby, Charlene Son, Boland, Michael, Prosser, Ben, Ruggiero, Sarah M, Syrbe, Steffen, Helbig, Ingo
Publicado 2023

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

por Montanucci, Ludovica, Lewis-Smith, David, Collins, Ryan L., Niestroj, Lisa-Marie, Parthasarathy, Shridhar, Xian, Julie, Ganesan, Shiva, Macnee, Marie, Brünger, Tobias, Thomas, Rhys H., Talkowski, Michael, Helbig, Ingo, Leu, Costin, Lal, Dennis
Publicado 2023

Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable

por Lewis-Smith, David, Galer, Peter D., Balagura, Ganna, Kearney, Hugh, Ganesan, Shiva, Cosico, Mahgenn, O’Brien, Margaret, Vaidiswaran, Priya, Krause, Roland, Ellis, Colin A., Thomas, Rhys H., Robinson, Peter N., Helbig, Ingo
Publicado 2021

Modulating effects of FGF12 variants on Na(V)1.2 and Na(V)1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

por Seiffert, Simone, Pendziwiat, Manuela, Bierhals, Tatjana, Goel, Himanshu, Schwarz, Niklas, van der Ven, Amelie, Boßelmann, Christian Malte, Lemke, Johannes, Syrbe, Steffen, Willemsen, Marjolein Hanna, Hedrich, Ulrike Barbara Stefanie, Helbig, Ingo, Weber, Yvonne
Publicado 2022

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

por Danis, Daniel, Jacobsen, Julius O. B., Balachandran, Parithi, Zhu, Qihui, Yilmaz, Feyza, Reese, Justin, Haimel, Matthias, Lyon, Gholson J., Helbig, Ingo, Mungall, Christopher J., Beck, Christine R., Lee, Charles, Smedley, Damian, Robinson, Peter N.
Publicado 2022