Detalhe da pesquisa
1.
Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.
Circulation
; 144(1): 7-19, 2021 07 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33947203
2.
Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays.
Hum Genet
; 140(2): 289-297, 2021 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-32627054
3.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genet Med
; 23(11): 2150-2159, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34345024
4.
Leveraging the power of new molecular technologies in the clinical setting requires unprecedented awareness of limitations and drawbacks: experience of one diagnostic laboratory.
J Med Genet
; 56(6): 408-412, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30242101
5.
Combinatorial therapeutic activation with heparin and AICAR stimulates additive effects on utrophin A expression in dystrophic muscles.
Hum Mol Genet
; 25(1): 24-43, 2016 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26494902
6.
Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood.
Am J Med Genet C Semin Med Genet
; 169(4): 314-27, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26531771
7.
Emerging complexity of the HuD/ELAVl4 gene; implications for neuronal development, function, and dysfunction.
RNA
; 19(8): 1019-37, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-23861535
8.
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.
bioRxiv
; 2024 May 06.
Artigo
Inglês
| MEDLINE | ID: mdl-38765987
9.
Characterization of multiple exon 1 variants in mammalian HuD mRNA and neuron-specific transcriptional control via neurogenin 2.
J Neurosci
; 32(33): 11164-75, 2012 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22895702
10.
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
medRxiv
; 2023 Apr 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37066275
11.
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Genome Med
; 15(1): 86, 2023 10 23.
Artigo
Inglês
| MEDLINE | ID: mdl-37872640
12.
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
J Mol Diagn
; 23(5): 589-598, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33631351
13.
Identification of therapeutics that target eEF1A2 and upregulate utrophin A translation in dystrophic muscles.
Nat Commun
; 11(1): 1990, 2020 04 24.
Artigo
Inglês
| MEDLINE | ID: mdl-32332749
14.
ALU transposition induces familial hypertrophic cardiomyopathy.
Mol Genet Genomic Med
; 8(1): e951, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31568709
15.
Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories.
J Mol Diagn
; 21(4): 602-611, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31028938
16.
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
Eur J Hum Genet
; 23(11): 1482-7, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25920557
17.
Trans-acting factors governing acetylcholinesterase mRNA metabolism in neurons.
Front Mol Neurosci
; 5: 36, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22461767