IngoHelbigMD

PubMed

• De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
  Yuchen Xu, Rui Song, Riley E Perszyk, Wenjuan Chen, Sukhan Kim, Kristen L Park, James P Allen, Kelsey A Nocilla, Jing Zhang, Wenshu XiangWei, Anel Tankovic, Ellington ...> ;Cellular and Molecular Life Sciences. 2024 Mar 28
• De novo variants in DENND5B cause a neurodevelopmental disorder.
  Al Saif, H., Sanchez Russo, R. L., Marcello Scala, Valeria Tomati, Matteo Ferla, Mariateresa Lena, Julie S Cohen, Ali Fatemi, Elly Brokamp, Anna Bican, John A Phillips...> ;American Journal of Human Genetics. 2024 Mar 7
• Early life seizures and epileptic spasms in STXBP1-related disorders.
  Kim M Thalwitzer, Julie Xian, Danielle de Campo, Shridhar Parthasarathy, Jan Magielski, Katie R Sullivan, James Goss, Charlene Son Rigby, Michael Boland, Ben Prosser, ...> ;Epilepsia. 2024 Mar 1
• 1 citations
  Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
  Agrawal, P. B., Lauren Jeffries, Emily K Mis, Kirsty McWalter, Sandra Donkervoort, Nina N Brodsky, Jean-Marie Carpier, Weizhen Ji, Cristian Ionita, Bhaskar Roy, Jon S ...> ;Genetics in Medicine. 2024 Feb 1
• 1 citations
  A structurally precise mechanism links an epilepsy-associatedpotassium channel mutation to interneuron dysfunction.
  Clatot, J., Currin, C., Liang, Q., Pipatpolkai, T., Delemotte, L., Vogels, T., Covarrubias, M., Massey, S., Helbig, I., Goldberg, E.> ;Proceedings of the National Academy of Sciences of the United States of America. 2024 Jan 16
• 1 citations
  Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
  Li, D., Wang, Q., Bayat, A., Battig, M., Zhou, Y., Bosch, D., van Haaften, G., Granger, L., Petersen, A., Pérez-Jurado, L., Aznar-Laín, G., Aneja, A., Hancarova, M., B...> ;The Journal of Clinical Investigation. 2024 Jan 2
• Genetic variants incontribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
  Scala, M., Bradley, C., Howe, J., Trost, B., Salazar, N., Shum, C., Reuter, M., MacDonald, J., Ko, S., Frankland, P., Granger, L., Anadiotis, G., Pullano, V., Brusco, ...> ;Medrxiv. 2023 Dec 27
• 1 citations
  Delineating clinical and developmental outcomes in STXBP1-related disorders.
  Julie Xian, Kim Marie Thalwitzer, Jillian McKee, Katie Rose Sullivan, Elise Brimble, Eryn Fitch, Jonathan Toib, Michael C Kaufman, Danielle deCampo, Kristin Cunningham...> ;Brain. 2023 Dec 1
• 2 citations
  Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
  Angela T Morgan, Thomas S Scerri, Adam P Vogel, Christopher A Reid, Mara Quach, Victoria E Jackson, Chaseley McKenzie, Emma L Burrows, Mark F Bennett, Samantha J Turne...> ;Brain. 2023 Dec 1
• 6 citations
  The Human Phenotype Ontology in 2024: phenotypes around the world.
  Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James...> ;Nucleic Acids Research. 2024 Jan 5
• 1 citations
  A Comparison of Ketamine and Midazolam as First-Line Anesthetic Infusions for Pediatric Status Epilepticus.
  Marin Jacobwitz, Caitlyn Mulvihill, Michael C Kaufman, Alexander K Gonzalez, Karla Resendiz, Conall Francoeur, Ingo Helbig, Alexis A Topjian, Nicholas S Abend> ;Neurocritical Care. 2023 Oct 2
• 1 citations
  Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.
  Chad R Camp, Anna Vlachos, Chiara Klöckner, Ilona Krey, Tue G Banke, Nima Shariatzadeh, Sarah M Ruggiero, Peter Galer, Kristen L Park, Adam Caccavano, Sarah Kimmel, Xi...> ;Communications Biology. 2023 Sep 19
• Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis.
  Robert Wang, Ingo Helbig, Andrew C Edmondson, Lan Lin, Yi Xing> ;Briefings in Bioinformatics. 2023 Sep 20
• A quality improvement initiative to improve folic acid supplementation counseling for adolescent females with epilepsy.
  Sara E Molisani, Darshana Parikh, Marissa DiGiovine, Dennis Dlugos, Mark P Fitzgerald, Lawrence Fried, Ingo Helbig, Sudha Kilaru Kessler, Pamela Pojomovsky McDonnell, ...> ;Epilepsia. 2023 Oct 1
• 5 citations
  Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
  Ludovica Montanucci, David Lewis-Smith, Ryan L Collins, Lisa-Marie Niestroj, Shridhar Parthasarathy, Julie Xian, Shiva Ganesan, Marie Macnee, Tobias Brünger, Rhys H Th...> ;Nature Communications. 2023 Jul 20
• 1 citations
  Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in.
  Kim M Thalwitzer, Jan H Driedger, Julie Xian, Afshin Saffari, Pia Zacher, Bigna K Bölsterli, Sarah McKeown Ruggiero, Katie Rose Sullivan, Alexandre N Datta, Christoph ...> ;Neurology. 2023 Aug 29
• 2 citations
  GLUT1, GGE, and the resilient fallacy of refuted epilepsy genes.
  Jillian L McKee, Alexis Karlin, Danielle deCampo, Ingo Helbig> ;Seizure. 2023 Jul 1
• Early life seizures and epileptic spasms in-related disorders.
  Kim M Thalwitzer, Julie Xian, Danielle deCampo, Shridhar Parthasarathy, Jan Magielski, Katie Rose Sullivan, James Goss, Charlene Son Rigby, Michael Boland, Ben Prosser...> ;Medrxiv. 2023 Jun 28
• Delineating clinical and developmental outcomes in-related disorders.
  Julie Xian, Kim Marie Thalwitzer, Jillian McKee, Katie Rose Sullivan, Elise Brimble, Eryn Fitch, Jonathan Toib, Michael C Kaufman, Danielle deCampo, Kristin Cunningham...> ;Medrxiv. 2023 May 11
• 2 citations
  Enriching representation learning using 53 million patient notes through human phenotype ontology embedding.
  Maryam Daniali, Peter D Galer, David Lewis-Smith, Shridhar Parthasarathy, Edward Kim, Dario D Salvucci, Jeffrey M Miller, Scott Haag, Ingo Helbig> ;Artificial Intelligence in Medicine. 2023 May 1
• 5 citations
  Review and standard operating procedures for collection of biospecimens and analysis of biomarkers in new onset refractory status epilepticus.
  Aurélie Hanin, Jorge Cespedes, Yashwanth Pulluru, Margaret Gopaul, Eleonora Aronica, Danielle Decampo, Ingo Helbig, Charles L Howe, Anita Huttner, Sookyong Koh, Vincen...> ;Epilepsia. 2023 Jun 1
• 5 citations
  Leveraging electronic medical record-embedded standardised electroencephalogram reporting to develop neonatal seizure prediction models: a retrospective cohort study.
  Jillian L McKee, Michael C Kaufman, Alexander K Gonzalez, Mark P Fitzgerald, Shavonne L Massey, France Fung, Sudha K Kessler, Stephanie Witzman, Nicholas S Abend, Ingo...> ;The Lancet. Digital Health. 2023 Apr 1
• Concomitant Calcium Channelopathies InvolvingandA Case Report and Review of the Literature.
  Donna Schaare, Sara M Sarasua, Laina Lusk, Shridhar Parthasarathy, Liangjiang Wang, Ingo Helbig, Luigi Boccuto> ;Genes. 2023 Feb 3
• 7 citations
  Gain-of-function variants in the ion channel geneunderlie a spectrum of neurodevelopmental disorders.
  Lydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew G L Douglas, Mark P Fit...> ;Elife. 2023 Jan 17
• 8 citations
  A disease concept model for STXBP1-related disorders.
  Katie R Sullivan, Sarah M Ruggiero, Julie Xian, Kim M Thalwitzer, Rahma Ali, Sydni Stewart, Mahgenn Cosico, Jackie Steinberg, James Goss, Anna C Pfalzer, Kyle J Hornin...> ;Epilepsia Open. 2023 Jun 1
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