Detalhe da pesquisa
1.
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Brain
; 145(5): 1668-1683, 2022 06 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35190816
2.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34930816
3.
Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors.
J Genet Couns
; 32(2): 266-280, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36281494
4.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
; 43(3): 403-419, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34989426
5.
Genetic testing for the epilepsies: A systematic review.
Epilepsia
; 63(2): 375-387, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34893972
6.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 102(5): 995-1007, 2018 05 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29656858
7.
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Epilepsia
; 61(2): 249-258, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31957018
8.
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Epilepsia
; 61(3): 387-399, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32090326
9.
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
Ann Neurol
; 81(3): 419-429, 2017 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-28133863
10.
PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
Epilepsia
; 59(3): 679-689, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29377098
11.
SCN1A variants associated with sudden infant death syndrome.
Epilepsia
; 59(4): e56-e62, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29601086
12.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 103(4): 631, 2018 10 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30290155
13.
Copy number variation plays an important role in clinical epilepsy.
Ann Neurol
; 75(6): 943-58, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24811917
14.
Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies.
Pediatr Neurol
; 138: 71-80, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36403551
15.
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
JAMA Netw Open
; 6(7): e2324380, 2023 07 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37471090
16.
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
Lancet Neurol
; 22(9): 812-825, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37596007
17.
Children's rare disease cohorts: an integrative research and clinical genomics initiative.
NPJ Genom Med
; 5: 29, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32655885
18.
Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study.
Neurology
; 2019 Jan 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30610098
19.
Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies.
Epilepsy Behav Case Rep
; 11: 125-128, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31193310
20.
Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression.
Cold Spring Harb Mol Case Stud
; 5(1)2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30709877