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Published in PLoS genetics (01.08.2013)
Published in PLoS genetics (01.08.2013)
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Annotating pathogenic non-coding variants in genic regions
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Published in Nature communications (09.08.2017)
Published in Nature communications (09.08.2017)
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HLA-A3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans
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Published in The New England journal of medicine (24.03.2011)
Published in The New England journal of medicine (24.03.2011)
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Distinct neurological disorders with ATP1A3 mutations
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
Published in Lancet neurology (01.05.2014)
Published in Lancet neurology (01.05.2014)
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Somatic variants in diverse genes leads to a spectrum of focal cortical malformations
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
Published in Brain (London, England : 1878) (27.08.2022)
Published in Brain (London, England : 1878) (27.08.2022)
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Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma
Green, Timothy E, Fujita, Atsushi, Ghaderi, Navid, Heinzen, Erin L, Matsumoto, Naomichi, Klein, Karl Martin, Berkovic, Samuel F, Hildebrand, Michael S
Published in Neurobiology of disease (01.09.2023)
Published in Neurobiology of disease (01.09.2023)
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Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes
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.
Published in American journal of human genetics (07.09.2012)
Published in American journal of human genetics (07.09.2012)
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De novo and inherited private variants in MAP1B in periventricular nodular heterotopia
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
Published in PLoS genetics (08.05.2018)
Published in PLoS genetics (08.05.2018)
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The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders
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.
Published in Molecular psychiatry (01.03.2022)
Published in Molecular psychiatry (01.03.2022)
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Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy
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.
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Tissue-specific genetic control of splicing: implications for the study of complex traits
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
Published in PLoS biology (01.12.2008)
Published in PLoS biology (01.12.2008)
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A functional correlate of severity in alternating hemiplegia of childhood
Li, Melody, Jazayeri, Dana, Corry, Ben, McSweeney, K. Melodi, Heinzen, Erin L, Goldstein, David B, Petrou, Steven
Published in Neurobiology of disease (01.05.2015)
Published in Neurobiology of disease (01.05.2015)
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Genetic literacy series: Primer part 2—Paradigm shifts in epilepsy genetics
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.
Published in Epilepsia (Copenhagen) (01.06.2018)
Published in Epilepsia (Copenhagen) (01.06.2018)
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Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals
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
Published in PLoS pathogens (01.02.2010)
Published in PLoS pathogens (01.02.2010)
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A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans
Zhu, Qianqian, Ge, Dongliang, Maia, Jessica M., Zhu, Mingfu, Petrovski, Slave, Dickson, Samuel P., Heinzen, Erin L., Shianna, Kevin V., Goldstein, David B.
Published in American journal of human genetics (08.04.2011)
Published in American journal of human genetics (08.04.2011)
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A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations
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
Published in PLoS genetics (29.11.2017)
Published in PLoS genetics (29.11.2017)
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Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia
Alkelai, Anna, Shohat, Shahar, Greenbaum, Lior, Schechter, Tanya, Draiman, Benjamin, Chitrit-Raveh, Eti, Rienstein, Shlomit, Dagaonkar, Neha, Hughes, Daniel, Aggarwal, Vimla S, Heinzen, Erin L, Shifman, Sagiv, Goldstein, David B, Kohn, Yoav
Published in Journal of human genetics (01.03.2021)
Published in Journal of human genetics (01.03.2021)
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Screening the human exome: a comparison of whole genome and whole transcriptome sequencing
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
Published in Genome biology (28.05.2010)
Published in Genome biology (28.05.2010)
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Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy
Heinzen, Erin L., Depondt, Chantal, Cavalleri, Gianpiero L., Ruzzo, Elizabeth K., Walley, Nicole M., Need, Anna C., Ge, Dongliang, He, Min, Cirulli, Elizabeth T., Zhao, Qian, Cronin, Kenneth D., Gumbs, Curtis E., Campbell, C. Ryan, Hong, Linda K., Maia, Jessica M., Shianna, Kevin V., McCormack, Mark, Radtke, Rodney A., O'Conner, Gerard D., Mikati, Mohamad A., Gallentine, William B., Husain, Aatif M., Sinha, Saurabh R., Chinthapalli, Krishna, Puranam, Ram S., McNamara, James O., Ottman, Ruth, Sisodiya, Sanjay M., Delanty, Norman, Goldstein, David B.
Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
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The characterization of twenty sequenced human genomes
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
Published in PLoS genetics (01.09.2010)
Published in PLoS genetics (01.09.2010)
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