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.
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.
Brain;
147(4): 1264-1277, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37939785
3.
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
4.
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
5.
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
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.
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
18.
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
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