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Marie Gramm
Marie Gramm
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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
702019
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
602019
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
552019
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
172020
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
82022
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
72020
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
32020
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, ...
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