المؤلفون: Variants, Commission on Novel Technologies for Neurodevelopmental Copy Number, Buttermore, Elizabeth, Chamberlain, Stormy, Cody, Jannine, Costain, Gregory, Dang, Louis, DeWoody, Andrew, DeWoody, Yssa, Dies, Kira, Eichler, Evan, Girirajan, Santhosh, Gramm, Marie, Halladay, Alycia, Lal, Dennis, Lalli, Matthew, Levy, Tess, Logsdon, Glennis, Lowenstein, Daniel, Mefford, Heather, Mulle, Jennifer, Muotri, Alysson, Murphy, Melissa, Palma, Eduardo Perez, Pinter, Stefan, Pollak, Rebecca, Purcell, Ryan, Samaco, Rodney, Shah, Bina, Singh, Karun, So, Joyce, Sundberg, Maria, Veeraragavan, Surabi, Vogel-Farley, Vanessa, Wynshaw-Boris, Anthony

المصدر: American Journal of Human Genetics. 109(8)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Neurosciences, Brain Disorders, DNA Copy Number Variations, Genome, Humans, Neurodevelopmental Disorders, Patient Advocacy, Phenotype, Commission on Novel Technologies for Neurodevelopmental Copy Number Variants, CNVs, biobank, community engagement, copy-number variants, genomic disorders, iPSCs, inclusion, infrastructure, long-read sequencing, neurodevelopment, neurological, patient centered, patient led, structural variants, systematic phenotyping, team science, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3tc3h13fTest

المؤلفون: Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Pérez‐Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y, Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C, High, Frances A, Sweetser, David A, Network, Undiagnosed Diseases, Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E, Yang, Edward, Waugh, Jeff L, Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna

المصدر: Epilepsia. 60(3)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Genetics, Epilepsy, Neurodegenerative, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Case-Control Studies, Child, Child, Preschool, Female, GTP-Binding Protein alpha Subunits, Gi-Go, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Humans, Male, Neurodevelopmental Disorders, Young Adult, developmental and epileptic encephalopathy, GNAO1, mosaicism, movement disorders, Undiagnosed Diseases Network, GNAO1, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5mv7d47mTest

المؤلفون: Gramm, Marie, Leu, Costin, Perez-Palma, Eduardo, Ferguson, Lisa, Jehi, Lara, Daly, Mark J., Najm, Imad M., Busch, Robyn M., Lal, Dennis

المساهمون: Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, University of Helsinki, HUS Helsinki and Uusimaa Hospital District

مصطلحات موضوعية: clustering, focal epilepsy, genetics, polygenic risk, COMMON GENETIC-VARIATION, SUSCEPTIBILITY, METAANALYSIS, SEIZURES, 3112 Neurosciences

وصف الملف: application/pdf

العلاقة: Projekt DEAL; Cleveland Clinic Epilepsy Center; NIH/NCATS; CTSA, Grant/Award Number: UL1TR000439; Gramm , M , Leu , C , Perez-Palma , E , Ferguson , L , Jehi , L , Daly , M J , Najm , I M , Busch , R M & Lal , D 2020 , ' Polygenic risk heterogeneity among focal epilepsies ' , Epilepsia , vol. 61 , no. 11 , pp. E179-E185 . https://doi.org/10.1111/epi.16717Test; 037d659d-8e18-4dab-893d-d0328ada0fc3; http://hdl.handle.net/10138/341445Test; 000577632500001

الإتاحة: http://hdl.handle.net/10138/341445Test

المؤلفون: Buttermore, Elizabeth, Chamberlain, Stormy, Cody, Jannine, Costain, Gregory, Dang, Louis, DeWoody, Andrew, DeWoody, Yssa, Dies, Kira, Eichler, Evan, Girirajan, Santhosh, Gramm, Marie, Halladay, Alycia, Lal, Dennis, Lalli, Matthew, Levy, Tess, Logsdon, Glennis, Lowenstein, Daniel, Mefford, Heather, Mulle, Jennifer, Muotri, Alysson, Murphy, Melissa, Perez Palma, Eduardo, Pinter, Stefan, Pollak, Rebecca, Purcell, Ryan, Samaco, Rodney, Shah, Bina, Singh, Karun, So, Joyce, Sundberg, Maria, Veeraragavan, Surabi, Vogel-Farley, Vanessa, Wynshaw-Boris, Anthony

المصدر: The American Journal of Human Genetics ; volume 109, issue 8, page 1353-1365 ; ISSN 0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.07.003Test
https://api.elsevier.com/content/article/PII:S000292972200307X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292972200307X?httpAccept=text/plainTest

المؤلفون: Pérez-Palma, Eduardo, Gramm, Marie, Nürnberg, Peter, May, Patrick, Lal, Dennis

المساهمون: Dravet Foundation Research

المصدر: Nucleic Acids Research ; volume 47, issue W1, page W99-W105 ; ISSN 0305-1048 1362-4962

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1093/nar/gkz411Test
http://academic.oup.com/nar/article-pdf/47/W1/W99/28880104/gkz411.pdfTest

المؤلفون: Frank, Stefan, Ahuja, Gaurav, Bartsch, Deniz, Russ, Nicole, Yao, Wenjie, Kuo, Joseph Chao-Chung, Derks, Jens-Peter, Akhade, Vijay Suresh, Kargapolova, Yulia, Georgomanolis, Theodore, Messling, Jan-Erik, Gramm, Marie, Brant, Lilija, Rehimi, Rizwan, Vargas, Natalia Emilse, Kuroczik, Alina, Yang, Tsun-Po, Sahito, Raja Ghazanfar Ali, Franzen, Julia, Hescheler, Juergen, Sachinidis, Agapios, Peifer, Martin, Rada-Iglesias, Alvaro, Kanduri, Meena, Costa, Ivan G., Kanduri, Chandrasekhar, Papantonis, Argyris, Kurian, Leo

المساهمون: NRW Stem Cell Network, CECAD, German Heart Association, Else Kröner-Fresenius-Stiftung, Deutsche Forschungsgemeinschaft, University of Cologne, CMMC, German Research Foundation

المصدر: Cell Stem Cell ; volume 24, issue 2, page 318-327.e8 ; ISSN 1934-5909

مصطلحات موضوعية: Cell Biology, Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.stem.2018.11.005Test
https://api.elsevier.com/content/article/PII:S1934590918305411?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1934590918305411?httpAccept=text/plainTest

المؤلفون: Weber, Grace E., Koenig, Katherine A., Khrestian, Maria, Shao, Yvonne, Tuason, Elizabeth D., Gramm, Marie, Lal, Dennis, Leverenz, James B., Bekris, Lynn M.

مصطلحات موضوعية: ddc:no

العلاقة: Weber, Grace E., Koenig, Katherine A., Khrestian, Maria orcid:0000-0002-1621-4711 , Shao, Yvonne, Tuason, Elizabeth D., Gramm, Marie, Lal, Dennis, Leverenz, James B. and Bekris, Lynn M. (2020). An Altered Relationship between Soluble TREM2 and Inflammatory Markers in Young Adults with Down Syndrome: A Preliminary Report. J. Immunol., 204 (5). S. 1111 - 1119. BETHESDA: AMER ASSOC IMMUNOLOGISTS. ISSN 1550-6606

الإتاحة: https://kups.ub.uni-koeln.de/34356Test/

المؤلفون: Gramm, Marie, Leu, Costin, Perez-Palma, Eduardo, Ferguson, Lisa, Jehi, Lara, Daly, Mark J., Najm, Imad M., Busch, Robyn M., Lal, Dennis

مصطلحات موضوعية: ddc:no

العلاقة: Gramm, Marie, Leu, Costin, Perez-Palma, Eduardo, Ferguson, Lisa, Jehi, Lara orcid:0000-0002-8041-6377 , Daly, Mark J., Najm, Imad M., Busch, Robyn M. and Lal, Dennis (2020). Polygenic risk heterogeneity among focal epilepsies. Epilepsia, 61 (11). S. E179 - 7. HOBOKEN: WILEY. ISSN 1528-1167

الإتاحة: https://kups.ub.uni-koeln.de/31504Test/

المؤلفون: Brunklaus, Andreas, Leu, Costin, Gramm, Marie, Pérez-Palma, Eduardo, Iqbal, Sumaiya, Lal, Dennis

المصدر: European Journal of Paediatric Neurology ; volume 24, page 35-39 ; ISSN 1090-3798

مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.ejpn.2019.12.001Test
https://api.elsevier.com/content/article/PII:S1090379819304210?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1090379819304210?httpAccept=text/plainTest