Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database E Pérez-Palma, M Gramm, P Nürnberg, P May, D Lal Nucleic acids research 47 (W1), W99-W105, 2019 | 70 | 2019 |
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region MK Kelly, M Park, I Mihalek, A Rochtus, M Gramm, E Pérez‐Palma, ... Epilepsia 60 (3), 406-418, 2019 | 60 | 2019 |
yylncT defines a class of divergently transcribed lncRNAs and safeguards the T-mediated mesodermal commitment of human PSCs S Frank, G Ahuja, D Bartsch, N Russ, W Yao, JCC Kuo, JP Derks, ... Cell stem cell 24 (2), 318-327. e8, 2019 | 55 | 2019 |
An altered relationship between soluble TREM2 and inflammatory markers in young adults with Down syndrome: a preliminary report GE Weber, KA Koenig, M Khrestian, Y Shao, ED Tuason, M Gramm, D Lal, ... The Journal of Immunology 204 (5), 1111-1118, 2020 | 17 | 2020 |
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact E Buttermore, S Chamberlain, J Cody, G Costain, L Dang, A DeWoody, ... The American Journal of Human Genetics 109 (8), 1353-1365, 2022 | 8 | 2022 |
Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies A Brunklaus, C Leu, M Gramm, E Pérez-Palma, S Iqbal, D Lal European Journal of Paediatric Neurology 24, 35-39, 2020 | 7 | 2020 |
Undiagnosed Diseases Network (2019) M Kelly, M Park, I Mihalek, A Rochtus, M Gramm, E Pérez-Palma, ... Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine …, 0 | 7 | |
Polygenic risk heterogeneity among focal epilepsies M Gramm, C Leu, E Pérez‐Palma, L Ferguson, L Jehi, MJ Daly, IM Najm, ... Epilepsia 61 (11), e179-e185, 2020 | 3 | 2020 |
SimText: A text mining framework for interactive analysis and visualization of similarities among biomedical entities M Gramm, E Pérez-Palma, S Schumacher-Bass, J Dalton, C Leu, ... bioRxiv, 2020.07. 06.190629, 2020 | | 2020 |
Altered Relationship between Soluble TREM2 and Inflammatory Markers in Young Adults with Down Syndrome GE Weber, K Koenig, M Khrestian, Y Shao, ED Tuason, M Gramm, D Lal, ... bioRxiv, 776583, 2019 | | 2019 |
Spectrum of neurodevelopmental disease associated with the GNAO1 GTP-binding region MK Kelly, M Park, I Mihalek, A Rochtus, M Gramm, E Pérez-Palma, ... | | |