Detalhe da pesquisa
1.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gastroenterology
; 164(4): 579-592.e8, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586540
2.
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.
J Paediatr Child Health
; 60(4-5): 118-124, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605555
3.
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Mol Genet Metab
; 137(1-2): 62-67, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35926322
4.
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.
Ann Neurol
; 89(5): 967-978, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576057
5.
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
Muscle Nerve
; 65(5): 531-540, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179231
6.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet
; 102(1): 69-87, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290338
7.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet Med
; 23(9): 1715-1725, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34054129
8.
L-carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial.
Am J Med Genet A
; 185(10): 2976-2985, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34155781
9.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
JAMA
; 323(24): 2503-2511, 2020 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573669
10.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275510
11.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190611
12.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Ann Neurol
; 83(6): 1105-1124, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691892
13.
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
Hum Mutat
; 39(3): 383-388, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29266598
14.
Nusinersen for SMA: expanded access programme.
J Neurol Neurosurg Psychiatry
; 89(9): 937-942, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29549190
15.
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.
J Neurol Neurosurg Psychiatry
; 89(10): 1071-1081, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29735511
16.
New and developing therapies in spinal muscular atrophy.
Paediatr Respir Rev
; 28: 3-10, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29703692
17.
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Muscle Nerve
; 50(4): 477-87, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25042182
18.
Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders.
Lancet Reg Health West Pac
; 45: 101049, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38545625
19.
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Ann Clin Transl Neurol
; 11(5): 1250-1266, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38544359
20.
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.
J Neurol Neurosurg Psychiatry
; 89(11): 1224-1226, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29378789