Somatic variants in epilepsy - advancing gene discovery and disease mechanisms

Por Heinzen, Erin L.
Publicado no Curr Opin Genet Dev (2020)

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

Por Petrovski, Slavé, Wang, Quanli, Heinzen, Erin L., Allen, Andrew S., Goldstein, David B.
Publicado em 2013

Correction: Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

Por Petrovski, Slavé, Wang, Quanli, Heinzen, Erin L., Allen, Andrew S., Goldstein, David B.
Publicado em 2013

Ethical challenges in genotype-driven research recruitment

Por Beskow, Laura M., Linney, Kristen N., Radtke, Rodney A., Heinzen, Erin L., Goldstein, David B.
Publicado em 2010

Utilizing Population Controls in Rare-Variant Case-Parent Association Tests

Por Jiang, Yu, Satten, Glen A., Han, Yujun, Epstein, Michael P., Heinzen, Erin L., Goldstein, David B., Allen, Andrew S.
Publicado em 2014

Nova2 Interacts with a Cis-Acting Polymorphism to Influence the Proportions of Drug-Responsive Splice Variants of SCN1A

Por Heinzen, Erin L., Yoon, Woohyun, Tate, Sarah K., Sen, Arjune, Wood, Nicholas W., Sisodiya, Sanjay M., Goldstein, David B.
Publicado em 2007

A whole-genome analysis of premature termination codons

Por Cirulli, Elizabeth T., Heinzen, Erin L., Dietrich, Fred S., Shianna, Kevin V., Singh, Abanish, Maia, Jessica M., Goedert, James J., Goldstein, David B.
Publicado em 2011

A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans

Por Zhu, Qianqian, Ge, Dongliang, Maia, Jessica M., Zhu, Mingfu, Petrovski, Slave, Dickson, Samuel P., Heinzen, Erin L., Shianna, Kevin V., Goldstein, David B.
Publicado em 2011

Screening the human exome: a comparison of whole genome and whole transcriptome sequencing

Por Cirulli, Elizabeth T, Singh, Abanish, Shianna, Kevin V, Ge, Dongliang, Smith, Jason P, Maia, Jessica M, Heinzen, Erin L, Goedert, James J, Goldstein, David B
Publicado em 2010

Genome-Wide mRNA Expression Correlates of Viral Control in CD4+ T-Cells from HIV-1-Infected Individuals

Por Rotger, Margalida, Dang, Kristen K., Fellay, Jacques, Heinzen, Erin L., Feng, Sheng, Descombes, Patrick, Shianna, Kevin V., Ge, Dongliang, Günthard, Huldrych F., Goldstein, David B., Telenti, Amalio
Publicado em 2010

Prioritizing Genetic Variants for Causality on the Basis of Preferential Linkage Disequilibrium

Por Zhu, Qianqian, Ge, Dongliang, Heinzen, Erin L., Dickson, Samuel P., Urban, Thomas J., Zhu, Mingfu, Maia, Jessica M., He, Min, Zhao, Qian, Shianna, Kevin V., Goldstein, David B.
Publicado em 2012

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis

Por Dhindsa, Ryan S., Bradrick, Shelton S., Yao, Xiaodi, Heinzen, Erin L., Petrovski, Slave, Krueger, Brian J., Johnson, Michael R., Frankel, Wayne N., Petrou, Steven, Boumil, Rebecca M., Goldstein, David B.
Publicado no Neurol Genet (2015)

Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease

Por Heinzen, Erin L, Yoon, Woohyun, Weale, Michael E, Sen, Arjune, Wood, Nicholas W, Burke, James R, Welsh-Bohmer, Kathleen A, Hulette, Christine M, Sisodiya, Sanjay M, Goldstein, David B
Publicado em 2007

Development and validation of a predictive model of drug-resistant genetic generalized epilepsy

Por Choi, Hyunmi, Detyniecki, Kamil, Bazil, Carl, Thornton, Suzanne, Crosta, Peter, Tolba, Hatem, Muneeb, Manahil, Hirsch, Lawrence J., Heinzen, Erin L., Sen, Arjune, Depondt, Chantal, Perucca, Piero, Heiman, Gary A.
Publicado no Neurology (2020)

Tissue-Specific Genetic Control of Splicing: Implications for the Study of Complex Traits

Por Heinzen, Erin L, Ge, Dongliang, Cronin, Kenneth D, Maia, Jessica M, Shianna, Kevin V, Gabriel, Willow N, Welsh-Bohmer, Kathleen A, Hulette, Christine M, Denny, Thomas N, Goldstein, David B
Publicado em 2008

Annotating pathogenic non-coding variants in genic regions

Por Gelfman, Sahar, Wang, Quanli, McSweeney, K. Melodi, Ren, Zhong, La Carpia, Francesca, Halvorsen, Matt, Schoch, Kelly, Ratzon, Fanni, Heinzen, Erin L., Boland, Michael J., Petrovski, Slavé, Goldstein, David B.
Publicado no Nat Commun (2017)

Genome-Wide Scan of Copy Number Variation in Late-Onset Alzheimer’s Disease

Por Heinzen, Erin L., Need, Anna C., Hayden, Kathleen M., Chiba-Falek, Ornit, Roses, Allen D., Strittmatter, Warren J., Burke, James R., Hulette, Christine M., Welsh-Bohmer, Kathleen A., Goldstein, David B.
Publicado em 2010

Differential gene expression in dentate granule cells in mesial temporal lobe epilepsy with and without hippocampal sclerosis

Por Griffin, Nicole G., Wang, Yu, Hulette, Christine M., Halvorsen, Matt, Cronin, Kenneth D., Walley, Nicole M., Haglund, Michael M., Radtke, Rodney A., Pate Skene, J. H., Sinha, Saurabh R., Heinzen, Erin L.
Publicado no Epilepsia (2016)

A Novel Kv7.3 Variant in the Voltage-Sensing S(4) Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate

Por Miceli, Francesco, Carotenuto, Lidia, Barrese, Vincenzo, Soldovieri, Maria Virginia, Heinzen, Erin L., Mandel, Arthur M., Lippa, Natalie, Bier, Louise, Goldstein, David B., Cooper, Edward C., Cilio, Maria Roberta, Taglialatela, Maurizio, Sands, Tristan T.
Publicado no Front Physiol (2020)

Genomic microdeletions associated with epilepsy: Not a contraindication to resective surgery

Por Catarino, Claudia B, Kasperavičiūtė, Dalia, Thom, Maria, Cavalleri, Gianpiero L, Martinian, Lillian, Heinzen, Erin L, Dorn, Thomas, Grunwald, Thomas, Chaila, Elijah, Depondt, Chantal, Krämer, Günter, Delanty, Norman, Goldstein, David B, Sisodiya, Sanjay M
Publicado em 2011