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Journal Article
Lopez-Rivera, Javier A., Leu, Costin, Macnee, Marie, Khoury, Jean, Hoffmann, Lucas ORCID: 0000-0002-3801-1595, Coras, Roland, Kobow, Katja
ORCID: 0000-0002-0074-2480, Bhattarai, Nisha, Perez-Palma, Eduardo, Hamer, Hajo, Brandner, Sebastian, Roessler, Karl, Bien, Christian G.
ORCID: 0000-0003-2225-8654, Kalbhenn, Thilo, Pieper, Tom, Hartlieb, Till, Butler, Elizabeth, Genovese, Giulio, Becker, Kerstin, Altmueller, Janine, Niestroj, Lisa-Marie, Ferguson, Lisa, Busch, Robyn M., Nuernberg, Peter, Najm, Imad, Bluemcke, Ingmar and Lal, Dennis
.
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
Brain.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Lopez-Rivera, Javier A., Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Symonds, Joseph
ORCID: 0000-0002-2141-4216, Lindy, Amanda S., McKnight, Dianalee A., Leu, Costin, Zuberi, Sameer, Brunklaus, Andreas, Moller, Rikke S. and Lal, Dennis
(2020).
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants.
Brain, 143.
S. 1099 - 1106.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Macnee, Marie, Perez-Palma, Eduardo, Lopez-Rivera, Javier A., Ivaniuk, Alina ORCID: 0000-0001-9912-3112, May, Patrick
ORCID: 0000-0001-8698-3770, Moller, Rikke S.
ORCID: 0000-0002-9664-1448 and Lal, Dennis
(2023).
Data-driven historical characterization of epilepsy-associated genes.
Eur. J. Paediatr. Neurol., 42.
S. 82 - 88.
OXFORD:
ELSEVIER SCI LTD.
ISSN 1532-2130
Smuk, Victoria, Lopez-Rivera, Javier A., Leu, Costin and Lal, Dennis . The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population. Eur. J. Hum. Genet.. LONDON: SPRINGERNATURE. ISSN 1476-5438