Výsledky vyhledávání - Helbig, Katherine L.

A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiology Autor Helbig, Katherine L, Nothnagel, Michael, Hampe, Jochen, Balschun, Tobias, Nikolaus, Susanna, Schreiber, Stefan, Franke, Andre, Nöthlings, Ute

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Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies Autor Sajan, Samin A., Powis, Zöe, Helbig, Katherine L., Nagakura, Honey, Immken, Ladonna, Tang, Sha, Alcaraz, Wendy A.

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Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications Autor Bain, Jennifer M., Snyder, LeeAnne Green, Helbig, Katherine L., Cooper, Dominique D., Chung, Wendy K., Goodspeed, Kimberly

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Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy Autor Berecki, Géza, Helbig, Katherine L., Ware, Tyson L., Grinton, Bronwyn, Skraban, Cara M., Marsh, Eric D., Berkovic, Samuel F., Petrou, Steven

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A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation Autor Ganesan, Shiva, Galer, Peter D., Helbig, Katherine L., McKeown, Sarah E., O’Brien, Margaret, Gonzalez, Alexander K., Felmeister, Alex S., Khankhanian, Pouya, Ellis, Colin A., Helbig, Ingo

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Correction: A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation Autor Ganesan, Shiva, Galer, Peter D., Helbig, Katherine L., McKeown, Sarah E., O’Brien, Margaret, Gonzalez, Alexander K., Felmeister, Alex S., Khankhanian, Pouya, Ellis, Colin A., Helbig, Ingo

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Mutations in SCN3A cause early infantile epileptic encephalopathy Autor Zaman, Tariq, Helbig, Ingo, Božović, Ivana Babić, DeBrosse, Suzanne D., Bergqvist, A. Christina, Wallis, Kimberly, Medne, Livija, Maver, Aleš, Peterlin, Borut, Helbig, Katherine L., Zhang, Xiaohong, Goldberg, Ethan M.

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Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data Autor Lewis-Smith, David, Ganesan, Shiva, Galer, Peter D., Helbig, Katherine L., McKeown, Sarah E., O’Brien, Margaret, Khankhanian, Pouya, Kaufman, Michael C., Gonzalez, Alexander K., Felmeister, Alex S., Krause, Roland, Ellis, Colin A., Helbig, Ingo

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High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity Autor Vanoye, Carlos G., Desai, Reshma R., Ji, Zhigang, Adusumilli, Sneha, Jairam, Nirvani, Ghabra, Nora, Joshi, Nishtha, Fitch, Eryn, Helbig, Katherine L., McKnight, Dianalee, Lindy, Amanda S., Zou, Fanggeng, Helbig, Ingo, Cooper, Edward C., George, Alfred L.

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Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders Autor Crawford, Katherine, Xian, Julie, Helbig, Katherine L., Galer, Peter D., Parthasarathy, Shridhar, Lewis-Smith, David, Kaufman, Michael C., Fitch, Eryn, Ganesan, Shiva, O’Brien, Margaret, Codoni, Veronica, Ellis, Colin A., Conway, Laura J., Taylor, Deanne, Krause, Roland, Helbig, Ingo

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Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome Autor Helbig, Ingo, Barcia, Giulia, Pendziwiat, Manuela, Ganesan, Shiva, Mueller, Stefanie H., Helbig, Katherine L., Vaidiswaran, Priya, Xian, Julie, Galer, Peter D., Afawi, Zaid, Specchio, Nicola, Kluger, Gerhard, Kuhlenbäumer, Gregor, Appenzeller, Silke, Wittig, Michael, Kramer, Uri, van Baalen, Andreas, Nabbout, Rima

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De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities Autor Martin, Sonja, Chamberlin, Adam, Shinde, Deepali N., Hempel, Maja, Strom, Tim M., Schreiber, Allison, Johannsen, Jessika, Ousager, Lilian Bomme, Larsen, Martin J., Hansen, Lars Kjaersgaard, Fatemi, Ali, Cohen, Julie S., Lemke, Johannes, Sørensen, Kristina P., Helbig, Katherine L., Lessel, Davor, Abou Jamra, Rami

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Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9 Autor Kortüm, Fanny, Jamra, Rami Abou, Alawi, Malik, Berry, Susan A., Borck, Guntram, Helbig, Katherine L., Tang, Sha, Huhle, Dagmar, Korenke, Georg Christoph, Hebbar, Malavika, Shukla, Anju, Girisha, Katta M., Steinlin, Maja, Waldmeier-Wilhelm, Sandra, Montomoli, Martino, Guerrini, Renzo, Lemke, Johannes R., Kutsche, Kerstin

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Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies Autor Galer, Peter D., Ganesan, Shiva, Lewis-Smith, David, McKeown, Sarah E., Pendziwiat, Manuela, Helbig, Katherine L., Ellis, Colin A., Rademacher, Annika, Smith, Lacey, Poduri, Annapurna, Seiffert, Simone, von Spiczak, Sarah, Muhle, Hiltrud, van Baalen, Andreas, Thomas, Rhys H., Krause, Roland, Weber, Yvonne, Helbig, Ingo

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De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function Autor Synofzik, Matthis, Helbig, Katherine L., Harmuth, Florian, Deconinck, Tine, Tanpaiboon, Pranoot, Sun, Bo, Guo, Wenting, Wang, Ruiwu, Palmaer, Erika, Tang, Sha, Schaefer, G. Bradley, Gburek-Augustat, Janina, Züchner, Stephan, Krägeloh-Mann, Ingeborg, Baets, Jonathan, de Jonghe, Peter, Bauer, Peter, Chen, S. R. Wayne, Schöls, Ludger, Schüle, Rebecca

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Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline Autor Hardies, Katia, Cai, Yiying, Jardel, Claude, Jansen, Anna C., Cao, Mian, May, Patrick, Djémié, Tania, Hachon Le Camus, Caroline, Keymolen, Kathelijn, Deconinck, Tine, Bhambhani, Vikas, Long, Catherine, Sajan, Samin A., Helbig, Katherine L., Suls, Arvid, Balling, Rudi, Helbig, Ingo, De Jonghe, Peter, Depienne, Christel, De Camilli, Pietro, Weckhuysen, Sarah

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Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases Autor Farwell Hagman, Kelly D., Shinde, Deepali N., Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C., Alcaraz, Wendy A., Helbig, Katherine L., Sajan, Samin A., Rossi, Mari, Lu, Hsiao-Mei, Huether, Robert, Li, Shuwei, Wu, Sitao, Nuñes, Mark E., Tang, Sha

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Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases Autor Farwell Hagman, Kelly D, Shinde, Deepali N, Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C, Alcaraz, Wendy A, Helbig, Katherine L, Sajan, Samin A, Rossi, Mari, Lu, Hsiao-Mei, Huether, Robert, Li, Shuwei, Wu, Sitao, Nuñes, Mark E, Tang, Sha

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Current knowledge of SLC6A1-related neurodevelopmental disorders Autor Goodspeed, Kimberly, Pérez-Palma, Eduardo, Iqbal, Sumaiya, Cooper, Dominique, Scimemi, Annalisa, Johannesen, Katrine M, Stefanski, Arthur, Demarest, Scott, Helbig, Katherine L, Kang, Jingqiong, Shaffo, Frances C, Prentice, Brandon, Brownstein, Catherine A, Lim, Byungchan, Helbig, Ingo, De Los Reyes, Emily, McKnight, Dianalee, Crunelli, Vincenzo, Campbell, Arthur J, Møller, Rikke S, Freed, Amber, Lal, Dennis

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The ClinGen Epilepsy Gene Curation Expert Panel – bridging the divide between clinical domain knowledge and formal gene curation criteria Autor Helbig, Ingo, Riggs, Erin Rooney, Barry, Carrie-Anne, Klein, Karl Martin, Dyment, David, Thaxton, Courtney, Sadikovic, Bekim, Sands, Tristan T., Wagnon, Jacy L., Liaquat, Khalida, Cilio, Maria Roberta, Mirzaa, Ghayda, Park, Kristen, Axeen, Erika, Butler, Elizabeth, Bardakjian, Tanya M., Striano, Pasquale, Poduri, Annapurna, Siegert, Rebecca K., Grant, Andrew R., Helbig, Katherine L., Mefford, Heather C.

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