Genic intolerance to functional variation and the interpretation of personal genomes von Petrovski, Slavé, Wang, Quanli, Heinzen, Erin L, Allen, Andrew S, Goldstein, David B

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Annotating pathogenic non-coding variants in genic regions von 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.

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HLA-A3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans von McCormack, Mark, Alfirevic, Ana, Bourgeois, Stephane, Farrell, John J, Kasperavičiūtė, Dalia, Carrington, Mary, Sills, Graeme J, Marson, Tony, Jia, Xiaoming, de Bakker, Paul I.W, Chinthapalli, Krishna, Molokhia, Mariam, Johnson, Michael R, O'Connor, Gerard D, Chaila, Elijah, Alhusaini, Saud, Shianna, Kevin V, Radtke, Rodney A, Heinzen, Erin L, Walley, Nicole, Pandolfo, Massimo, Pichler, Werner, Park, B. Kevin, Depondt, Chantal, Sisodiya, Sanjay M, Goldstein, David B, Deloukas, Panos, Delanty, Norman, Cavalleri, Gianpiero L, Pirmohamed, Munir

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

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Somatic variants in diverse genes leads to a spectrum of focal cortical malformations von Lai, Dulcie, Gade, Meethila, Yang, Edward, Koh, Hyun Yong, Lu, Jinfeng, Walley, Nicole M, Buckley, Anne F, Sands, Tristan T, Akman, Cigdem I, Mikati, Mohamad A, McKhann, Guy M, Goldman, James E, Canoll, Peter, Alexander, Allyson L, Park, Kristen L, Von Allmen, Gretchen K, Rodziyevska, Olga, Bhattacharjee, Meenakshi B, Lidov, Hart G W, Vogel, Hannes, Grant, Gerald A, Porter, Brenda E, Poduri, Annapurna H, Crino, Peter B, Heinzen, Erin L

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Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma von Green, Timothy E, Fujita, Atsushi, Ghaderi, Navid, Heinzen, Erin L, Matsumoto, Naomichi, Klein, Karl Martin, Berkovic, Samuel F, Hildebrand, Michael S

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

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

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Somatic variants in epilepsy – advancing gene discovery and disease mechanisms von Heinzen, Erin L

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Tissue-specific genetic control of splicing: implications for the study of complex traits von 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

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Exploring the impact of somatic variant burden on seizures in focal cortical dysplasia von Gade, Meethila, Heinzen, Erin L

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The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders von Alkelai, Anna, Greenbaum, Lior, Docherty, Anna R., Shabalin, Andrey A., Povysil, Gundula, Malakar, Ayan, Hughes, Daniel, Delaney, Shannon L., Peabody, Emma P., McNamara, James, Gelfman, Sahar, Baugh, Evan H., Zoghbi, Anthony W., Harms, Matthew B., Hwang, Hann-Shyan, Grossman-Jonish, Anat, Aggarwal, Vimla, Heinzen, Erin L., Jobanputra, Vaidehi, Pulver, Ann E., Lerer, Bernard, Goldstein, David B.

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

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Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals von 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

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A functional correlate of severity in alternating hemiplegia of childhood von Li, Melody, Jazayeri, Dana, Corry, Ben, McSweeney, K. Melodi, Heinzen, Erin L, Goldstein, David B, Petrou, Steven

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Genetic literacy series: Primer part 2—Paradigm shifts in epilepsy genetics von Helbig, Ingo, Heinzen, Erin L., Mefford, Heather C., Berkovic, Samuel F., Lowenstein, Daniel H., Kato, Mitsuhiro, Cross, J. Helen, Satishchandra, P., De Jonghe, Peter, Jiang, Yuwu, Goldman, Alicia, Petrou, Steve, Tan, Nigel C. K.

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

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

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The characterization of twenty sequenced human genomes von Pelak, Kimberly, Shianna, Kevin V, Ge, Dongliang, Maia, Jessica M, Zhu, Mingfu, Smith, Jason P, Cirulli, Elizabeth T, Fellay, Jacques, Dickson, Samuel P, Gumbs, Curtis E, Heinzen, Erin L, Need, Anna C, Ruzzo, Elizabeth K, Singh, Abanish, Campbell, C Ryan, Hong, Linda K, Lornsen, Katharina A, McKenzie, Alexander M, Sobreira, Nara L M, Hoover-Fong, Julie E, Milner, Joshua D, Ottman, Ruth, Haynes, Barton F, Goedert, James J, Goldstein, David B

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A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations von Zhu, Xiaolin, Padmanabhan, Raghavendra, Copeland, Brett, Bridgers, Joshua, Ren, Zhong, Kamalakaran, Sitharthan, O'Driscoll-Collins, Ailbhe, Berkovic, Samuel F, Scheffer, Ingrid E, Poduri, Annapurna, Mei, Davide, Guerrini, Renzo, Lowenstein, Daniel H, Allen, Andrew S, Heinzen, Erin L, Goldstein, David B

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