Detalhe da pesquisa
1.
Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy.
Brain
; 146(3): 850-857, 2023 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36315647
2.
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Am J Hum Genet
; 107(4): 683-697, 2020 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32853554
3.
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Brain
; 145(5): 1668-1683, 2022 06 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35190816
4.
The Human Phenotype Ontology in 2021.
Nucleic Acids Res
; 49(D1): D1207-D1217, 2021 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33264411
5.
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery.
Hum Mutat
; 43(11): 1642-1658, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35460582
6.
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.
Genet Med
; 23(7): 1263-1272, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33731876
7.
Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable.
Epilepsia
; 62(6): 1293-1305, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33949685
8.
Climate change and epilepsy: Insights from clinical and basic science studies.
Epilepsy Behav
; 116: 107791, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33578223
9.
Early-onset genetic epilepsies reaching adult clinics.
Brain
; 143(3): e19, 2020 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32203577
10.
The prevalence of genetically diagnosable epilepsies in young adulthood: How many should we be looking for?
Epilepsia
; 61(9): 2053-2054, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32783195
11.
Enriching representation learning using 53 million patient notes through human phenotype ontology embedding.
Artif Intell Med
; 139: 102523, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37100502
12.
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Nat Commun
; 14(1): 4392, 2023 07 20.
Artigo
Inglês
| MEDLINE | ID: mdl-37474567
13.
The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease.
medRxiv
; 2023 Jul 13.
Artigo
Inglês
| MEDLINE | ID: mdl-37503136
14.
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.
Med
; 4(12): 913-927.e3, 2023 Dec 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37963467
15.
A review of the clinical spectrum of BRAT1 disorders and case of developmental and epileptic encephalopathy surviving into adulthood.
Epilepsy Behav Rep
; 19: 100549, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35620305
16.
Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in SMC1A.
Epilepsy Behav Rep
; 19: 100556, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35712061
17.
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Neurology
; 99(3): e221-e233, 2022 07 19.
Artigo
Inglês
| MEDLINE | ID: mdl-35851549
18.
The different clinical facets of SYN1-related neurodevelopmental disorders.
Front Cell Dev Biol
; 10: 1019715, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36568968
19.
Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data.
Eur J Hum Genet
; 29(11): 1690-1700, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34031551
20.
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.
Neurology
; 97(6): e577-e586, 2021 08 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34078716