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by Kelly, McKenna and Park, Meredith and Mihalek, Ivana and Rochtus, Anne and Gramm, Marie and Pérez‐Palma, Eduardo and Axeen, Erika Takle and Hung, Christina Y and Olson, Heather and Swanson, Lindsay and Anselm, Irina and Briere, Lauren C and High, Frances A and Sweetser, David A and Kayani, Saima and Snyder, Molly and Calvert, Sophie and Scheffer, Ingrid E and Yang, Edward and Waugh, Jeff L and Lal, Dennis and Bodamer, Olaf and Poduri, Annapurna and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell‐Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fairbrother, Laura and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gould, Sarah E and Gourdine, Jean‐Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and High, Francis and Holm, Ingrid A and Hom, Jason and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Epilepsia, ISSN 0013-9580, 03/2019, Volume 60, Issue 3, pp. 406 - 418
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2014, Volume 9, Issue 4, pp. e95413 - e95413
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Neurobiology of Aging, ISSN 0197-4580, 2013, Volume 34, Issue 6, pp. 1709.e9 - 1709.e18
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The New England Journal of Medicine, ISSN 0028-4793, 04/2019, Volume 380, Issue 16, pp. e24 - 1028
To the Editor: With regard to the article by Bailey et al. (March 15, 2018, issue) 1 on the potential role of variants in the gene encoding intestinal-cell... 
MEDICINE, GENERAL & INTERNAL | Intestine | Epilepsy | Index Medicus | Abridged Index Medicus
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CURRENT OPINION IN NEUROLOGY, ISSN 1350-7540, 04/2019, Volume 32, Issue 2, pp. 183 - 190
Purpose of review Recent publications point to an increasingly important role of variants in genes encoding GABA(A) receptor subunits associated with both... 
GABRA1 | neuronal inhibition | seizure | PROTEIN | GENERALIZED EPILEPSIES | CORTICAL INHIBITION | NEUROSCIENCES | PHENOTYPIC SPECTRUM | MOUSE MODELS | CLINICAL NEUROLOGY | ABSENCE EPILEPSY | exome sequencing | genetics | electrophysiology | MUTATION | GENES | SUBUNIT
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Biophysical Journal, ISSN 0006-3495, 02/2019, Volume 116, Issue 3, pp. 420a - 421a
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NUCLEIC ACIDS RESEARCH, ISSN 0305-1048, 07/2019, Volume 47, Issue W1, pp. W99 - W105
Clinical genetic testing has exponentially expanded in recent years, leading to an overwhelming amount of patient variants with high variability in... 
SEQUENCE VARIANTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | Web Server Issue
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Scientific Reports, ISSN 2045-2322, 02/2019, Volume 9, Issue 1, pp. 2132 - 11
Whole human genome sequencing initiatives help us understand population history and the basis of genetic diseases. Current data mostly focuses on Old World... 
GENETIC-VARIATION | CHILEAN POPULATION | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY | POPULATION-STRUCTURE | MTHFR | MAP | Population studies | Genomes | Nucleotide sequence | Copy number | Minority & ethnic groups
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