Detalhe da pesquisa
1.
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
2.
Assisting the analysis of insertions and deletions using regional allele frequencies.
Funct Integr Genomics
; 24(3): 104, 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38764005
3.
High-impact rare genetic variants in severe schizophrenia.
Proc Natl Acad Sci U S A
; 118(51)2021 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34903660
4.
Investigation into the genetics of fetal congenital lymphatic anomalies.
Prenat Diagn
; 43(6): 703-716, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36959127
5.
Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.
Epilepsia
; 63(3): 723-735, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35032048
6.
Seizures and Sleep in the Thalamus: Focal Limbic Seizures Show Divergent Activity Patterns in Different Thalamic Nuclei.
J Neurosci
; 37(47): 11441-11454, 2017 11 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29066556
7.
Impaired Serotonergic Brainstem Function during and after Seizures.
J Neurosci
; 36(9): 2711-22, 2016 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26937010
8.
Rhythmic 3-4Hz discharge is insufficient to produce cortical BOLD fMRI decreases in generalized seizures.
Neuroimage
; 109: 368-77, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25562830
9.
Thalamic stimulation to improve level of consciousness after seizures: evaluation of electrophysiology and behavior.
Epilepsia
; 56(1): 114-24, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25442843
10.
Optogenetic stimulation of cholinergic brainstem neurons during focal limbic seizures: Effects on cortical physiology.
Epilepsia
; 56(12): e198-202, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26530287
11.
Engaging paediatric residents through a journal club podcast.
Med Educ
; 54(11): 1059-1060, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32857871
12.
Increased resting functional connectivity in spike-wave epilepsy in WAG/Rij rats.
Epilepsia
; 54(7): 1214-22, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23815571
13.
The Contribution of Commonly Diagnosed Genetic Disorders to Small for Gestational Age Birth and Subsequent Morbidity and Mortality in Preterm Infants.
medRxiv
; 2023 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503041
14.
Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing.
Schizophr Res
; 252: 138-145, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645932
15.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
medRxiv
; 2023 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873269
16.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Res Sq
; 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196621
17.
Where fMRI and electrophysiology agree to disagree: corticothalamic and striatal activity patterns in the WAG/Rij rat.
J Neurosci
; 31(42): 15053-64, 2011 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-22016539
18.
Testing for minimal consciousness in complex partial and generalized tonic-clonic seizures.
Epilepsia
; 53(10): e180-3, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22931210
19.
Risk Variants in the Exomes of Children With Critical Illness.
JAMA Netw Open
; 5(10): e2239122, 2022 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36306130
20.
Impaired consciousness in temporal lobe seizures: role of cortical slow activity.
Brain
; 133(Pt 12): 3764-77, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21081551