Detalhe da pesquisa
1.
Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders.
Proc Natl Acad Sci U S A
; 119(4)2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35074918
2.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961779
3.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Am J Hum Genet
; 108(6): 1138-1150, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909992
4.
Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis.
Ann Neurol
; 93(3): 577-590, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36394118
5.
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
Genet Med
; 25(8): 100884, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37161864
6.
Efficacy of cannabidiol in convulsive and nonconvulsive seizure types associated with treatment-resistant epilepsies in the Expanded Access Program.
Epilepsia
; 64(8): e156-e163, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37243404
7.
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
Am J Hum Genet
; 104(4): 701-708, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30879638
8.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genet Med
; 24(6): 1283-1296, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35346573
9.
Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network.
Ann Neurol
; 89(4): 726-739, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410532
10.
Long-term cannabidiol treatment for seizures in patients with tuberous sclerosis complex: An open-label extension trial.
Epilepsia
; 63(2): 426-439, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34957550
11.
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
Am J Hum Genet
; 103(6): 1022-1029, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30526861
12.
A state-based approach to genomics for rare disease and population screening.
Genet Med
; 23(4): 777-781, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33244164
13.
Reply to "Chance Bias Arising from TSC2 Mutation Imbalance in the PREVeNT Trial".
Ann Neurol
; 95(2): 414, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38081750
14.
Effects of highly purified cannabidiol (CBD) on fMRI of working memory in treatment-resistant epilepsy.
Epilepsy Behav
; 112: 107358, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32871501
15.
Cannabidiol normalizes resting-state functional connectivity in treatment-resistant epilepsy.
Epilepsy Behav
; 112: 107297, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32745959
16.
Cognitive function and adaptive skills after a one-year trial of cannabidiol (CBD) in a pediatric sample with treatment-resistant epilepsy.
Epilepsy Behav
; 111: 107299, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32759071
17.
Commentary Regarding the Results of the PREVeNT and EPISTOP Trials.
Ann Neurol
; 2023 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37953635
18.
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Ann Neurol
; 84(5): 788-795, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269351
19.
Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study.
Epilepsia
; 60(12): 2428-2436, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31691264
20.
Quality of life in adults enrolled in an open-label study of cannabidiol (CBD) for treatment-resistant epilepsy.
Epilepsy Behav
; 95: 10-17, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31003195