Search details
1.
A framework for individualized splice-switching oligonucleotide therapy.
Nature
; 619(7971): 828-836, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37438524
2.
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Epilepsia
; 65(3): 709-724, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38231304
3.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-34930816
4.
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
Genet Med
; 24(11): 2240-2248, 2022 11.
Article
in English
| MEDLINE | ID: mdl-35997716
5.
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Am J Med Genet A
; 188(12): 3516-3524, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35934918
6.
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.
Ann Neurol
; 85(6): 921-926, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30937933
7.
Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.
Mol Genet Metab
; 123(3): 317-325, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29279279
8.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 103(4): 631, 2018 10 04.
Article
in English
| MEDLINE | ID: mdl-30290155
9.
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
Ann Neurol
; 76(4): 581-93, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25044251
10.
Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies.
Epilepsy Behav Case Rep
; 11: 125-128, 2019.
Article
in English
| MEDLINE | ID: mdl-31193310
11.
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.
J Child Neurol
; 32(1): 127-131, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27770045
12.
Clinical Reasoning: A 6-week-old infant with migrating focal seizures.
Neurology
; 94(4): 178-183, 2020 01 28.
Article
in English
| MEDLINE | ID: mdl-31932516
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