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.
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
3.
Why did my seizures start now? Influences of lesion connectivity and genetic etiology on age at seizure onset in focal epilepsy.
Epilepsia
; 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38488289
4.
Inhibitory control in children with agenesis of the corpus callosum compared with typically developing children.
J Int Neuropsychol Soc
; 30(1): 18-26, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057871
5.
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.
Brain
; 2023 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37939785
6.
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Ann Neurol
; 92(1): 122-137, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35411967
7.
Intrinsic and secondary epileptogenicity in focal cortical dysplasia type II.
Epilepsia
; 64(2): 348-363, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36527426
8.
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Epilepsia
; 64(5): 1351-1367, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36779245
9.
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Brain
; 145(9): 3274-3287, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35769015
10.
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Am J Hum Genet
; 104(5): 914-924, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982611
11.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med
; 24(1): 130-145, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906502
12.
Structural Neuroplastic Responses Preserve Functional Connectivity and Neurobehavioural Outcomes in Children Born Without Corpus Callosum.
Cereb Cortex
; 31(2): 1227-1239, 2021 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108795
13.
Defining the phenotypical spectrum associated with variants in TUBB2A.
J Med Genet
; 58(1): 33-40, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32571897
14.
Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.
Int J Mol Sci
; 23(3)2022 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163267
15.
Large-scale functional network dynamics in human callosal agenesis: Increased subcortical involvement and preserved laterality.
Neuroimage
; 243: 118471, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34455063
16.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genet Med
; 23(2): 363-373, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144681
17.
The spectrum of brain malformations and disruptions in twins.
Am J Med Genet A
; 185(9): 2690-2718, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33205886
18.
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.
Am J Med Genet A
; 185(10): 2941-2950, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089223
19.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Am J Med Genet A
; 185(1): 15-25, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33029936
20.
The severe epilepsy syndromes of infancy: A population-based study.
Epilepsia
; 62(2): 358-370, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33475165