Detalhe da pesquisa
1.
A cross-disorder dosage sensitivity map of the human genome.
Cell
; 185(16): 3041-3055.e25, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35917817
2.
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.
Am J Hum Genet
; 110(7): 1110-1122, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369202
3.
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.
Hum Mol Genet
; 32(19): 2857-2871, 2023 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369021
4.
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.
Bioinformatics
; 39(5)2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37104749
5.
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Epilepsia
; 65(4): 1046-1059, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38410936
6.
Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study.
Epilepsia
; 65(2): 322-337, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38049202
7.
Delineation of functionally essential protein regions for 242 neurodevelopmental genes.
Brain
; 146(2): 519-533, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36256779
8.
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.
Brain
; 146(3): 923-934, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36036558
9.
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
Brain
; 146(4): 1342-1356, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36226386
10.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Brain
; 146(12): 5198-5208, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647852
11.
Polygenic burden and its association with baseline cognitive function and postoperative cognitive outcome in temporal lobe epilepsy.
Epilepsy Behav
; 153: 109692, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38394790
12.
DDGun: an untrained predictor of protein stability changes upon amino acid variants.
Nucleic Acids Res
; 50(W1): W222-W227, 2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35524565
13.
Technological and computational approaches to detect somatic mosaicism in epilepsy.
Neurobiol Dis
; 184: 106208, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37343892
14.
Identification of pathogenic variant enriched regions across genes and gene families.
Genome Res
; 30(1): 62-71, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31871067
15.
ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes.
Nat Immunol
; 12(5): 441-9, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21423173
16.
Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes.
Acta Neuropathol
; 145(6): 815-827, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36973520
17.
Prophecy or empiricism? Clinical value of predicting versus determining genetic variant functions.
Epilepsia
; 64(11): 2909-2913, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37562820
18.
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brain
; 145(12): 4275-4286, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35037686
19.
Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort.
Brain
; 145(5): 1839-1853, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34919654
20.
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brain
; 145(11): 3816-3831, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35696452