Detalhe da pesquisa
1.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Am J Hum Genet
; 110(3): 419-426, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868206
2.
Precision Medicine Approaches for Infantile-Onset Developmental and Epileptic Encephalopathies.
Annu Rev Pharmacol Toxicol
; 62: 641-662, 2022 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34579535
3.
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.
Am J Hum Genet
; 109(11): 2080-2087, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36288729
4.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 601-617, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395208
5.
Genetic architecture of childhood speech disorder: a review.
Mol Psychiatry
; 2024 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38366112
6.
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
J Med Genet
; 61(6): 578-585, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38290825
7.
Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy.
J Neurosci
; 43(12): 2199-2209, 2023 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36813574
8.
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Hum Mol Genet
; 31(14): 2307-2316, 2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35137044
9.
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Am J Hum Genet
; 108(4): 722-738, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798445
10.
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
Ann Neurol
; 94(5): 825-835, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37597255
11.
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Mol Psychiatry
; 28(4): 1647-1663, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36117209
12.
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Epilepsia
; 65(4): 1046-1059, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38410936
13.
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Epilepsia
; 65(3): 779-791, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38088023
14.
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
15.
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Brain
; 146(9): 3885-3897, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37006128
16.
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Brain
; 146(12): 5086-5097, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37977818
17.
Bi-allelic LoF NRROS Variants Impairing Active TGF-ß1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
Am J Hum Genet
; 106(4): 559-569, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197075
18.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Am J Hum Genet
; 107(5): 977-988, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33058759
19.
Differential diagnosis of familial adult myoclonic epilepsy.
Epilepsia
; 64 Suppl 1: S52-S57, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751956
20.
Genes4Epilepsy: An epilepsy gene resource.
Epilepsia
; 64(5): 1368-1375, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36808730