Detalhe da pesquisa
1.
Hereditary cancer genes are highly susceptible to splicing mutations.
PLoS Genet
; 14(3): e1007231, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29505604
2.
The effects of structure on pre-mRNA processing and stability.
Methods
; 125: 36-44, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28595983
3.
Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.
Hum Genet
; 136(9): 1303-1312, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28780672
4.
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
Hum Mol Genet
; 22(7): 1473-81, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23297363
5.
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
Am J Hum Genet
; 91(3): 489-501, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22939634
6.
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Hum Mol Genet
; 21(7): 1513-20, 2012 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22199024
7.
Genetic variation and RNA binding proteins: tools and techniques to detect functional polymorphisms.
Adv Exp Med Biol
; 825: 227-66, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25201108
8.
The debranching enzyme Dbr1 regulates lariat turnover and intron splicing.
Res Sq
; 2023 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37398028
9.
Pathogenic variants that alter protein code often disrupt splicing.
Nat Genet
; 49(6): 848-855, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28416821
10.
Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development.
Congenit Heart Dis
; 10(3): 193-208, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-24720490
11.
Functionally significant, rare transcription factor variants in tetralogy of Fallot.
PLoS One
; 9(8): e95453, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25093829
12.
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Genome Biol
; 15(3): R53, 2014 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-24667040
13.
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Neurology
; 81(14): 1205-14, 2013 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23975875
14.
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
Nat Genet
; 45(7): 822-4, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23708191
15.
Programmed death ligand 1 (PD-L1) gene variants contribute to autoimmune Addison's disease and Graves' disease susceptibility.
J Clin Endocrinol Metab
; 94(12): 5139-45, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19850680