المؤلفون: 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, Group, NCEE Study, Investigators, EPGP, Consortium, EuroEPINOMICS-RES, Network, Genomics Research and Innovation, Thomas, Rhys H, Krause, Roland, Weber, Yvonne, Helbig, Ingo

المصدر: American Journal of Human Genetics. 107(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Neurodegenerative, Epilepsy, Prevention, Neurosciences, Brain Disorders, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Child, Preschool, Cohort Studies, Female, GABA Plasma Membrane Transport Proteins, Gene Expression, Gene Ontology, Humans, Male, Munc18 Proteins, Mutation, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Seizures, Semantics, Shab Potassium Channels, Spasms, Infantile, Speech Disorders, Terminology as Topic, Exome Sequencing, NCEE Study Group, EPGP Investigators, EuroEPINOMICS-RES Consortium, Genomics Research and Innovation Network, Human Phenotype Ontology, childhood epilepsies, computational phenotypes, developmental and epileptic encephalopathies, electronic medical records, neurogenetic disorders, whole-exome sequencing, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1jp636w4

المؤلفون: Lewis-Smith, David^{Aff1, Aff2, Aff3, Aff4}, Ganesan, Shiva^{Aff3, Aff4, Aff5}, Galer, Peter D.^{Aff3, Aff4, Aff5}, Helbig, Katherine L.^{Aff3, Aff4, Aff5}, McKeown, Sarah E.^{Aff3, Aff5}, O’Brien, Margaret^{Aff4, Aff5}, Khankhanian, Pouya, Kaufman, Michael C.^{Aff3, Aff4, Aff5}, Gonzalez, Alexander K.^{Aff3, Aff4}, Felmeister, Alex S., Krause, Roland, Ellis, Colin A.^{Aff3, Aff4, Aff6}, Helbig, Ingo^{Aff3, Aff4, Aff5, Aff6}

المصدر: European Journal of Human Genetics. 29(11):1690-1700

المؤلفون: Cousin, Margot A.^{Aff1, Aff2, IDs4158802100886z_cor1}, Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M.^{Aff7, Aff8}, Beltran, Alvaro A.^{Aff9, Aff10}, Munoz, Lorena J., Falcon Rodriguez, Liset, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla^{Aff13, Aff14}, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo^{Aff20, Aff21, Aff22, Aff23}, McKeown, Sarah E.^{Aff20, Aff21}, Stratton, Robert, Cogne, Benjamin^{Aff25, Aff26}, Isidor, Bertrand^{Aff25, Aff26}, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V.^{Aff28, Aff29}, Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T.^{Aff32, Aff33}, Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E.^{Aff37, Aff38}, van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer^{Aff1, Aff39}, Lanpher, Brendan C.^{Aff1, Aff39}, Schultz-Rogers, Laura E.^{Aff1, Aff2}, Gunderson, Lauren B.^{Aff1, Aff39}, Pichurin, Pavel N., Yoon, Grace, Zech, Michael^{Aff41, Aff42}, Jech, Robert, Winkelmann, Juliane^{Aff41, Aff42, Aff44, Aff45}, Beltran, Adriana S.^{Aff10, Aff46, Aff47}, Zimmermann, Michael T.^{Aff6, Aff48, Aff49}, Temple, Brenda, Moy, Sheryl S.^{Aff7, Aff8}, Klee, Eric W.^{Aff1, Aff2, Aff39}, Tan, Queenie K.-G., Lorenzo, Damaris N.^{Aff3, Aff8, Aff9, IDs4158802100886z_cor76}

المصدر: Nature Genetics. 53(7):1006-1021

المؤلفون: Ganesan, Shiva^{Aff1, Aff2, Aff3}, Galer, Peter D.^{Aff1, Aff2, Aff3}, Helbig, Katherine L.^{Aff1, Aff2, Aff3}, McKeown, Sarah E.^{Aff1, Aff2}, O’Brien, Margaret^{Aff1, Aff3}, Gonzalez, Alexander K.^{Aff2, Aff3}, Felmeister, Alex S., Khankhanian, Pouya, Ellis, Colin A.^{Aff2, Aff3, Aff4}, Helbig, Ingo^{Aff1, Aff2, Aff3, Aff4}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(12):2060-2070

المؤلفون: Ganesan, Shiva^{Aff1, Aff2, Aff3}, Galer, Peter D.^{Aff1, Aff2, Aff3}, Helbig, Katherine L.^{Aff1, Aff2, Aff3}, McKeown, Sarah E.^{Aff1, Aff2}, O’Brien, Margaret^{Aff1, Aff3}, Gonzalez, Alexander K.^{Aff2, Aff3}, Felmeister, Alex S., Khankhanian, Pouya, Ellis, Colin A.^{Aff2, Aff3, Aff4}, Helbig, Ingo^{Aff1, Aff2, Aff3, Aff4}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(11):1921-1922

المؤلفون: 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, Spiczak, Sarah Von, Muhle, Hiltrud, Baalen, Andreas Van, Thomas, Rhys H., Krause, Roland, Weber, Yvonne, Helbig, Ingo

مصطلحات الفهرس: electronic medical records, Human Phenotype Ontology, childhood epilepsies, neurogenetic disorders, developmental and epileptic encephalopathies, whole-exome sequencing, computational phenotypes, info:eu-repo/semantics/article

URL: http://www.sciencedirect.com/science/article/pii/S0002929720302718
http://orbilu.uni.lu/handle/10993/45310
http://orbilu.uni.lu/bitstream/10993/45310/1/1-s2.0-S0002929720302718-main.pdf

المؤلفون: Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Falcon Rodriguez, Liset, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.

المصدر: Nature Genetics; July 2021, Vol. 53 Issue: 7 p1006-1021, 16p

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