Detalhe da pesquisa
1.
A framework for an evidence-based gene list relevant to autism spectrum disorder.
Nat Rev Genet
; 21(6): 367-376, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32317787
2.
A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.
Hum Mol Genet
; 31(20): 3393-3404, 2022 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35594551
3.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain
; 143(10): 2929-2944, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32979048
4.
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Genet Med
; 22(10): 1731-1732, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32728138
5.
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Genet Med
; 21(11): 2413-2421, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31182824
6.
Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.
Genet Med
; 21(11): 2639-2643, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160751
7.
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.
PLoS Genet
; 11(11): e1005637, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26540169
8.
Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.
Genet Med
; 23(10): 2022, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33353975
9.
Effect of Angiofibromas on Quality of Life and Access to Care in Tuberous Sclerosis Patients and Their Caregivers.
Pediatr Dermatol
; 33(5): 518-25, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27436143
10.
Emerging roles and opportunities for rare disease patient advocacy groups.
Ther Adv Rare Dis
; 4: 26330040231164425, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197559
11.
Toward representative genomic research: the children's rare disease cohorts experience.
Ther Adv Rare Dis
; 4: 26330040231181406, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37621556
12.
GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy.
Mol Ther Methods Clin Dev
; 27: 32-46, 2022 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36156879
13.
Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers.
J Neurodev Disord
; 14(1): 24, 2022 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35321655
14.
A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations.
Contemp Clin Trials Commun
; 21: 100733, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33644493
15.
Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes.
Handb Clin Neurol
; 132: 3-8, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26564068
16.
A magnetic resonance imaging study of cerebellar volume in tuberous sclerosis complex.
Pediatr Neurol
; 48(2): 105-10, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23337002
17.
Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.
J Child Neurol
; 28(2): 198-203, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23266945
18.
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
Brain Dev
; 32(7): 550-5, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19751967
19.
Clinical genetic testing for patients with autism spectrum disorders.
Pediatrics
; 125(4): e727-35, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20231187