Judith Weisenberg

Associate Professor of Neurology

  • 1188 Citations
20102019
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Personal profile

Research interests

My interests include etiology of developmental delay, the genetics of epilepsy as well as neonatal seizures and their impact on longterm development. My current research project looks at how global developmental delay is one of the most common problems evaluated by child neurologists and geneticists. Chromosomal microarray is a newer technology that allows a targeted analysis for microdeletions and microduplications of the entire genome. Currently we are completing a retrospective chart review of all subjects who had a chromosomal microarray at St. Louis Children's Hospital over a two year period. We are looking at the utilization, limitations, diagnostic yield and clinical variables that might be predictive of an abnormal result.

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  • 5 Similar Profiles
Epilepsy Medicine & Life Sciences
Brain Diseases Medicine & Life Sciences
Seizures Medicine & Life Sciences
Mutation Medicine & Life Sciences
Infantile Spasms Medicine & Life Sciences
felbamate Medicine & Life Sciences
Genes Medicine & Life Sciences
Genome Medicine & Life Sciences

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Research Output 2010 2019

  • 1188 Citations
  • 14 Article
  • 2 Review article
  • 1 Chapter
  • 1 Comment/debate
1 Citation (Scopus)

Severity Assessment in CDKL5 Deficiency Disorder

Demarest, S., Pestana-Knight, E. M., Olson, H. E., Downs, J., Marsh, E. D., Kaufmann, W. E., Partridge, C. A., Leonard, H., Gwadry-Sridhar, F., Frame, K. E., Cross, J. H., Chin, R. F. M., Parikh, S., Panzer, A., Weisenberg, J., Utley, K., Jaksha, A., Amin, S., Khwaja, O., Devinsky, O. & 3 others, Neul, J. L., Percy, A. K. & Benke, T. A., Aug 2019, In : Pediatric Neurology. 97, p. 38-42 5 p.

Research output: Contribution to journalArticle

Epilepsy
Natural History
Consensus
Cyclin-Dependent Kinase 5
Clinical Trials
5 Citations (Scopus)

Gain-of-function HCN2 variants in genetic epilepsy

Li, M., Maljevic, S., Phillips, A. M., Petrovski, S., Hildebrand, M. S., Burgess, R., Mount, T., Zara, F., Striano, P., Schubert, J., Thiele, H., Nürnberg, P., Wong, M., Weisenberg, J. L., Thio, L. L., Lerche, H., Scheffer, I. E., Berkovic, S. F., Petrou, S. & Reid, C. A., Feb 1 2018, In : Human mutation. 39, 2, p. 202-209 8 p.

Research output: Contribution to journalArticle

Generalized Epilepsy
Epilepsy
Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels
Juvenile Myoclonic Epilepsy
Reflex Epilepsy

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

The International League Against Epilepsy Consortium on Complex Epilepsies, Dec 1 2018, In : Nature communications. 9, 1, 5269.

Research output: Contribution to journalArticle

Open Access
epilepsy
genome
loci
Epilepsy
Genes
3 Citations (Scopus)

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

Epi4K Consortium, Epilepsy Phenome Genome Project & EuroEPINOMICS-RES Consortium, Jun 1 2017, In : European Journal of Human Genetics. 25, 7, p. 894-899 6 p.

Research output: Contribution to journalArticle

Open Access
Brain Diseases
Infantile Spasms
Genes
Recessive Genes
Ion Channels
1 Citation (Scopus)

Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

Appenzeller, S., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Dimova, P., Djémié, T., Gormley, P., Guerrini, R., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jähn, J., Klein, K. M., Koeleman, B., Komarek, V., Krause, R. & 111 others, Kuhlenbäumer, G., Leguern, E., Lehesjoki, A. E., Lemke, J. R., Lerche, H., Linnankivi, T., Marini, C., May, P., Møller, R. S., Muhle, H., Pal, D., Palotie, A., Pendziwiat, M., Robbiano, A., Roelens, F., Rosenow, F., Selmer, K., Serratosa, J. M., Sisodiya, S., Stephani, U., Sterbova, K., Striano, P., Suls, A., Talvik, T., von Spiczak, S., Weber, Y., Weckhuysen, S., Zara, F., Abou-Khalil, B., Alldredge, B. K., Andermann, E., Andermann, F., Amrom, D., Bautista, J. F., Berkovic, S. F., Bluvstein, J., Boro, A., Cascino, G., Consalvo, D., Crumrine, P., Devinsky, O., Dlugos, D., Epstein, M. P., Fiol, M., Fountain, N. B., French, J., Friedman, D., Geller, E. B., Glauser, T., Glynn, S., Haas, K., Haut, S. R., Hayward, J., Helmers, S. L., Joshi, S., Kanner, A., Kirsch, H. E., Knowlton, R. C., Kossoff, E. H., Kuperman, R., Kuzniecky, R., Lowenstein, D. H., McGuire, S. M., Motika, P. V., Novotny, E. J., Ottman, R., Paolicchi, J. M., Parent, J., Park, K., Poduri, A., Sadleir, L., Scheffer, I. E., Shellhaas, R. A., Sherr, E., Shih, J. J., Singh, R., Sirven, J., Smith, M. C., Sullivan, J., Thio, L. L., Venkat, A., Vining, E. P. G., Von Allmen, G. K., Weisenberg, J. L., Widdess-Walsh, P., Winawer, M. R., Allen, A. S., Berkovic, S. F., Cossette, P., Delanty, N., Dlugos, D., Eichler, E. E., Epstein, M. P., Glauser, T., Goldstein, D. B., Han, Y., Heinzen, E. L., Johnson, M. R., Kuzniecky, R., Lowenstein, D. H., Marson, A. G., Mefford, H. C., Nieh, S. E., O'Brien, T. J., Ottman, R., Petrou, S., Petrovski, S., Poduri, A., Ruzzo, E. K., Scheffer, I. E. & Sherr, E., Jan 5 2017, In : American journal of human genetics. 100, 1, 1 p.

Research output: Contribution to journalComment/debate

Open Access
Medical Genetics
Brain Diseases
Synaptic Transmission
Names
Epilepsy