Detalhe da pesquisa
1.
Genome Sequencing for Diagnosing Rare Diseases.
N Engl J Med;
390(21): 1985-1997, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38838312
2.
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
Hum Mol Genet;
32(12): 2084-2092, 2023 06 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36920481
3.
Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.
Clin Genet;
103(5): 553-559, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36799557
4.
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.
Am J Hum Genet;
105(3): 573-587, 2019 09 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31447096
5.
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
6.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
Am J Hum Genet;
99(5): 1086-1105, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27745833
7.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Ann Neurol;
83(6): 1105-1124, 2018 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29691892
8.
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
9.
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
Hum Mol Genet;
24(21): 6146-59, 2015 Nov 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26293662
10.
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Am J Hum Genet;
93(1): 29-41, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23768512
11.
Expanding the phenotype of GMPPB mutations.
Brain;
138(Pt 4): 836-44, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25681410
12.
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
13.
Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant.
Front Neurol;
14: 1055639, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36779065
14.
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
medRxiv;
2023 Aug 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38328047
15.
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.
Muscle Nerve;
46(2): 275-82, 2012 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22806379
16.
Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone.
HGG Adv;
3(4): 100125, 2022 Oct 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35847480
17.
A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre.
Neuromuscul Disord;
32(9): 707-717, 2022 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35948506
18.
Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes.
Muscle Nerve;
44(2): 280-2, 2011 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21755510
19.
Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.
Muscle Nerve;
44(1): 135-41, 2011 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21674528
20.
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy.
Eur J Hum Genet;
29(1): 61-66, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32862205