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.
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Am J Med Genet A
; 191(8): 2015-2044, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37392087
4.
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
N Engl J Med
; 381(17): 1644-1652, 2019 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31597037
5.
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
6.
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
7.
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
8.
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
9.
Clinical and genetic characterization of AP4B1-associated SPG47.
Am J Med Genet A
; 176(2): 311-318, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29193663
10.
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
11.
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
12.
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
13.
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
Hum Mutat
; 34(1): 167-75, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22903760
14.
Emerging roles and opportunities for rare disease patient advocacy groups.
Ther Adv Rare Dis
; 4: 26330040231164425, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197559
15.
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
16.
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
Hum Mutat
; 33(3): 476-9, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22161988
17.
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
18.
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
19.
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Hum Mutat
; 32(4): 424-35, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21309039
20.
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