Risultati della ricerca - Erin L. Heinzen

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  1. 1
    Primer Part 1—The building blocks of epilepsy genetics

    Primer Part 1—The building blocks of epilepsy genetics di Ingo Helbig, Erin L. Heinzen, Heather C. Mefford

    Pubblicazione 2016
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  2. 2
    Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

    Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes di Slavé Petrovski, Quanli Wang, Erin L. Heinzen, Andrew S. Allen, David B. Goldstein

    Pubblicazione 2013
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  3. 3
    Correction: Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

    Correction: Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes di Slavé Petrovski, Quanli Wang, Erin L. Heinzen, Andrew S. Allen, David B. Goldstein

    Pubblicazione 2013
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  4. 4
    Nova2 Interacts with a Cis-Acting Polymorphism to Influence the Proportions of Drug-Responsive Splice Variants of SCN1A

    Nova2 Interacts with a Cis-Acting Polymorphism to Influence the Proportions of Drug-Responsive Splice Variants of SCN1A di Erin L. Heinzen, Woohyun Yoon, Sarah K. Tate, Arjune Sen, Nicholas Wood, Sanjay M. Sisodiya, David B. Goldstein

    Pubblicazione 2007
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  5. 5
    A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans

    A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans di Qianqian Zhu, Dongliang Ge, Jessica M. Maia, Mingfu Zhu, Slavé Petrovski, Samuel P. Dickson, Erin L. Heinzen, Kevin V. Shianna, David Goldstein

    Pubblicazione 2011
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  6. 6
    Screening the human exome: a comparison of whole genome and whole transcriptome sequencing

    Screening the human exome: a comparison of whole genome and whole transcriptome sequencing di Elizabeth T. Cirulli, Abanish Singh, Kevin V. Shianna, Dongliang Ge, Jason P. Smith, Jessica M. Maia, Erin L. Heinzen, James J. Goedert, David B. Goldstein

    Pubblicazione 2010
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  7. 7
    Genome-Wide mRNA Expression Correlates of Viral Control in CD4+ T-Cells from HIV-1-Infected Individuals

    Genome-Wide mRNA Expression Correlates of Viral Control in CD4+ T-Cells from HIV-1-Infected Individuals di Margalida Rotger, Kristen K. Dang, Jacques Fellay, Erin L. Heinzen, Sheng Feng, Patrick Descombes, Kevin V. Shianna, Dongliang Ge, Huldrych F. Günthard, David B. Goldstein, Amalio Telenti

    Pubblicazione 2010
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  8. 8
    Epileptic encephalopathy-causing mutations in <i>DNM1</i> impair synaptic vesicle endocytosis

    Epileptic encephalopathy-causing mutations in <i>DNM1</i> impair synaptic vesicle endocytosis di Ryan S. Dhindsa, Shelton S. Bradrick, Xiaodi Yao, Erin L. Heinzen, Slavé Petrovski, Brian J. Krueger, Michael R. Johnson, Wayne N. Frankel, Steven Petrou, Rebecca M. Boumil, David B. Goldstein

    Pubblicazione 2015
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  9. 9
    Tissue-Specific Genetic Control of Splicing: Implications for the Study of Complex Traits

    Tissue-Specific Genetic Control of Splicing: Implications for the Study of Complex Traits di Erin L. Heinzen, Dongliang Ge, Kenneth Cronin, Jessica M. Maia, Kevin V. Shianna, Willow N. Gabriel, Kathleen A. Welsh‐Bohmer, Christine M. Hulette, Thomas N. Denny, David B. Goldstein

    Pubblicazione 2008
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  10. 10
    Genome-Wide Scan of Copy Number Variation in Late-Onset Alzheimer's Disease

    Genome-Wide Scan of Copy Number Variation in Late-Onset Alzheimer's Disease di Erin L. Heinzen, Anna C. Need, Kathleen M. Hayden, Ornit Chiba‐Falek, Allen D. Roses, Warren J. Strittmatter, James R. Burke, Christine M. Hulette, Kathleen A. Welsh‐Bohmer, David Goldstein

    Pubblicazione 2010
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  11. 11
    Annotating pathogenic non-coding variants in genic regions

    Annotating pathogenic non-coding variants in genic regions di Sahar Gelfman, Quanli Wang, K. Melodi McSweeney, Zhong Ren, Francesca La Carpia, Matthew Halvorsen, Kelly Schoch, Fanni Ratzon, Erin L. Heinzen, Michael J. Boland, Slavé Petrovski, David B. Goldstein

    Pubblicazione 2017
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  12. 12
    Loss of Slc35a2 alters development of the mouse cerebral cortex

    Loss of Slc35a2 alters development of the mouse cerebral cortex di Soad Elziny, Sahibjot Sran, Hyojung Yoon, Rachel Corrigan, John G. Page, Amanda Ringland, Anna Lanier, Sara Lapidus, James Foreman, Erin L Heinzen, Philip H. Iffland, Peter B. Crino, Tracy A. Bedrosian

    Pubblicazione 2024
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  13. 13
    SVA: software for annotating and visualizing sequenced human genomes

    SVA: software for annotating and visualizing sequenced human genomes di Dongliang Ge, Elizabeth K. Ruzzo, Kevin V. Shianna, Min He, Kimberly Pelak, Erin L. Heinzen, Anna C. Need, Elizabeth T. Cirulli, Jessica M. Maia, Samuel P. Dickson, Mingfu Zhu, Abanish Singh, Andrew S. Allen, David B. Goldstein

    Pubblicazione 2011
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  14. 14
    Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes

    Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes di Mingfu Zhu, Anna C. Need, Yujun Han, Dongliang Ge, Jessica M. Maia, Qianqian Zhu, Erin L. Heinzen, Elizabeth T. Cirulli, Kimberly Pelak, Min He, Elizabeth K. Ruzzo, Curtis Gumbs, Abanish Singh, Sheng Feng, Kevin V. Shianna, David B. Goldstein

    Pubblicazione 2012
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  15. 15
    De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

    De novo and inherited private variants in MAP1B in periventricular nodular heterotopia di Erin L. Heinzen, Adam C. O’Neill, Xiaolin Zhu, Andrew S. Allen, Melanie Bahlo, Jamel Chelly, Ming Hui Chen, William B. Dobyns, Saskia Freytag, Renzo Guerrini, Richard J. Leventer, Annapurna Poduri, Stephen P. Robertson, Christopher A. Walsh, Mengqi Zhang

    Pubblicazione 2018
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  16. 16
    Distinct neurological disorders with ATP1A3 mutations

    Distinct neurological disorders with ATP1A3 mutations di Erin L. Heinzen, Alexis Arzimanoglou, Allison Brashear, Steven J. Clapcote, Fiorella Gurrieri, David B. Goldstein, Sigurður H Jóhannesson, Mohamad A. Mikati, Brian Neville, Sophie Nicole, Laurie J. Ozelius, Hanne Poulsen, Tsveta Schyns, Kathleen J. Sweadner, Arn van den Maagdenberg, Bente Vilsen

    Pubblicazione 2014
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  17. 17
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB

    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB di Anna C. Need, Deborah K. Attix, Jill M. McEvoy, Elizabeth T. Cirulli, Kristen L. Linney, Priscilla Hunt, Dongliang Ge, Erin L. Heinzen, Jessica M. Maia, Kevin V. Shianna, Michael E. Weale, Lynn Cherkas, Gail Clement, Tim D. Spector, Greg Gibson, David B. Goldstein

    Pubblicazione 2009
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  18. 18
    Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

    Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations di Annapurna Poduri, Gilad D. Evrony, Xuyu Cai, Princess C. Elhosary, Rameen Beroukhim, Maria K. Lehtinen, L. Benjamin Hills, Erin L. Heinzen, Anthony D. Hill, R. Sean Hill, Brenda J. Barry, Blaise F. D. Bourgeois, James J. Riviello, A. James Barkovich, Peter McL. Black, Keith L. Ligon, Christopher A. Walsh

    Pubblicazione 2012
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  19. 19
    Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

    Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy di Michael S. Hildebrand, Nicole G. Griffin, John A. Damiano, Elisa J. Cops, Rosemary Burgess, Ezgi Öztürk, Nigel C. Jones, Richard J. Leventer, Jeremy L. Freeman, A. Simon Harvey, Lynette G. Sadleir, Ingrid E. Scheffer, Heather J. Major, Benjamin W. Darbro, Andrew S. Allen, David B. Goldstein, John Kerrigan, Samuel F. Berkovic, Erin L. Heinzen

    Pubblicazione 2016
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  20. 20
    Gaps and opportunities in refractory status epilepticus research in children: A multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG)

    Gaps and opportunities in refractory status epilepticus research in children: A multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG) di Ivan Sánchez Fernández, Nicholas S. Abend, Satish Agadi, Sookee An, Ravindra Arya, Jessica L. Carpenter, Kevin Chapman, William D. Gaillard, Tracy A. Glauser, David B. Goldstein, Joshua Goldstein, Howard P. Goodkin, Cecil D. Hahn, Erin L. Heinzen, Mohamad A. Mikati, Katrina Peariso, John Pestian, Margie Ream, James J. Riviello, Robert C. Tasker, Korwyn Williams, Tobias Loddenkemper

    Pubblicazione 2013
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