Resultados da pesquisa - Katherine L. Helbig

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  1. 1
    Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

    Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy Por Katherine L. Helbig, Kelly D. Farwell Hagman, Deepali N. Shinde, Cameron Mroske, Zöe Powis, Shuwei Li, Sha Tang, Ingo Helbig

    Publicado em 2016
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  2. 2
    Mutations in <i>SCN3A</i> cause early infantile epileptic encephalopathy

    Mutations in <i>SCN3A</i> cause early infantile epileptic encephalopathy Por Tariq Zaman, Ingo Helbig, Ivana Babič Božović, Suzanne D. DeBrosse, A. Christina Bergqvist, Kimberly Wallis, Līvija Medne, Aleš Maver, Borut Peterlin, Katherine L. Helbig, Xiaohong Zhang, Ethan M. Goldberg

    Publicado em 2018
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  3. 3
    Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

    Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications Por Erica D. Smith, Kelly Radtke, Mari Rossi, Deepali N. Shinde, Sourat Darabi, Dima El‐Khechen, Zöe Powis, Katherine L. Helbig, Kendra Waller, Dorothy K. Grange, Sha Tang, Kelly D. Farwell Hagman

    Publicado em 2017
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  4. 4
    High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

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

    Publicado em 2022
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  5. 5
    Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

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

    Publicado em 2021
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  6. 6
    Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

    Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies Por Heather C. Mefford, Hiltrud Muhle, P Ostertag, Sarah von Spiczak, Karen Buysse, Carl Baker, André Franke, Alain Malafosse, Pierre Genton, Pierre Thomas, Christina A. Gurnett, Stefan Schreiber, Alexander G. Bassuk, Michel Guipponi, Ulrich Stephani, Katherine L. Helbig, Evan E. Eichler

    Publicado em 2010
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  7. 7
    De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

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

    Publicado em 2017
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  8. 8
    Neuronal mechanisms of mutations in <i>SCN8A</i> causing epilepsy or intellectual disability

    Neuronal mechanisms of mutations in <i>SCN8A</i> causing epilepsy or intellectual disability Por Yuanyuan Liu, Julian Schubert, Lukas Sonnenberg, Katherine L. Helbig, Christina Engel Hoei‐Hansen, Mahmoud Koko, Maert Rannap, Stephan Lauxmann, Mahbubul Huq, Michael C. Schneider, Katrine M. Johannesen, Gerhard Kurlemann, Elena Gardella, Felicitas Becker, Yvonne G. Weber, Jan Benda, Rikke S. Møller, Holger Lerche

    Publicado em 2018
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  9. 9
    Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

    Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance Por Leanne M. Dibbens, Saul A. Mullen, Katherine L. Helbig, Heather C. Mefford, Marta A. Bayly, Susannah T. Bellows, Costin Leu, Holger Trucks, Tanja Obermeier, Michael Wittig, André Franke, Hande Çağlayan, Zühal Yapıcı, T. Sander, Evan E. Eichler, Ingrid E. Scheffer, John C. Mulley, Samuel F. Berkovic

    Publicado em 2009
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  10. 10
    Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

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

    Publicado em 2016
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  11. 11
    Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

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

    Publicado em 2016
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  12. 12
    Male patients affected by mosaic PCDH19 mutations: five new cases

    Male patients affected by mosaic PCDH19 mutations: five new cases Por Iris Lange, Patrick Rump, Rinze F. Neuteboom, Paul B. Augustijn, K. Hodges, A. I. Kistemaker, Oebele F. Brouwer, Grazia M.S. Mancini, Hadas Newman, Yvonne J. Vos, Katherine L. Helbig, Cacha Peeters‐Scholte, Marjolein Kriek, N. Knoers, Dick Lindhout, Bobby P.C. Koeleman, Marjan J. A. van Kempen, Eva H. Brilstra

    Publicado em 2017
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  13. 13
    A recurrent mutation in <i>KCNA2</i> as a novel cause of hereditary spastic paraplegia and ataxia

    A recurrent mutation in <i>KCNA2</i> as a novel cause of hereditary spastic paraplegia and ataxia Por Katherine L. Helbig, Ulrike B. S. Hedrich, Deepali N. Shinde, Ilona Krey, Anne‐Christin Teichmann, Julia Hentschel, Julian Schubert, Adam Chamberlin, Robert Huether, Hsiao‐Mei Lu, Wendy Alcaraz, Sha Tang, Chelsy Jungbluth, Sarah Dugan, Leena Vainionpää, Kathrin N. Karle, Matthis Synofzik, Lüdger Schöls, Rebecca Schüle, Anna‐Elina Lehesjoki, Ingo Helbig, Holger Lerche, Johannes R. Lemke

    Publicado em 2016
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  14. 14
    The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria

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

    Publicado em 2018
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  15. 15
    Current knowledge of SLC6A1-related neurodevelopmental disorders

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

    Publicado em 2020
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  16. 16
    Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

    Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood Por F.‐Nora Vögtle, Björn Brändl, Austin Larson, Manuela Pendziwiat, Marisa W. Friederich, Susan M. White, Alice Basinger, Cansu Küçükköse, Hiltrud Muhle, Johanna Jähn, Oliver Keminer, Katherine L. Helbig, Carolyn Delto, Lisa Myketin, Dirk Mossmann, Nils Burger, Noriko Miyake, Audrey Burnett, Andreas van Baalen, Mark A. Lovell, Naomichi Matsumoto, Maie Walsh, Hung‐Chun Yu, Deepali N. Shinde, Ulrich Stephani, Johan L.K. Van Hove, Frank Müller, Ingo Helbig

    Publicado em 2018
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  17. 17
    Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy

    Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy Por Wenshu XiangWei, Varun Kannan, Yuchen Xu, Gabrielle J. Kosobucki, Anthony J. Schulien, Hirofumi Kusumoto, Christelle Moufawad El Achkar, Subhrajit Bhattacharya, Gaëtan Lesca, Sylvie Nguyen, Katherine L. Helbig, Jean‐Marie Cuisset, Christina Fenger, Dragan Marjanović, Elisabeth Schuler, Ye Wu, Xinhua Bao, Yuehua Zhang, Nina Dirkx, An‐Sofie Schoonjans, Steffen Syrbe, Scott J. Myers, Annapurna Poduri, Elias Aizenman, Stephen F. Traynelis, Johannes R. Lemke, Hongjie Yuan, Yuwu Jiang

    Publicado em 2019
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  18. 18
    De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

    De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures Por Candace T. Myers, Nicholas Stong, Emily Mountier, Katherine L. Helbig, Saskia Freytag, Joseph Sullivan, Bruria Ben Zeev, Andreea Nissenkorn, Michal Tzadok, Gali Heimer, Deepali N. Shinde, Arezoo Rezazadeh, Brigid M. Regan, Karen Oliver, Michelle Ernst, Natalie Lippa, Maureen Mulhern, Zhong Ren, Annapurna Poduri, Danielle M. Andrade, Lynne M. Bird, Melanie Bahlo, Samuel F. Berkovic, Daniel H. Lowenstein, Ingrid E. Scheffer, Lynette G. Sadleir, David B. Goldstein, Heather C. Mefford, Erin L. Heinzen

    Publicado em 2017
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  19. 19
    De novo variants in neurodevelopmental disorders with epilepsy

    De novo variants in neurodevelopmental disorders with epilepsy Por Henrike Heyne, Tarjinder Singh, Hannah Stamberger, Rami Abou Jamra, Hande Çağlayan, Dana Craiu, Peter De Jonghe, Renzo Guerrini, Katherine L. Helbig, Bobby P.C. Koeleman, Jack A. Kosmicki, Tarja Linnankivi, Patrick May, Hiltrud Muhle, Rikke S. Møller, Bernd A. Neubauer, Aarno Palotie, Manuela Pendziwiat, Pasquale Striano, Sha Tang, Sitao Wu, Annapurna Poduri, Yvonne G. Weber, Sarah Weckhuysen, Sanjay M. Sisodiya, Mark J. Daly, Ingo Helbig, Dennis Lal, Johannes R. Lemke

    Publicado em 2018
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  20. 20
    Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

    Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders Por Dennis Lal, Patrick May, Eduardo Pérez‐Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa Marie Niestroj, Juliana Du, Carla Marini, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P.C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, Mark J. Daly

    Publicado em 2020
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