Detalhe da pesquisa
1.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Am J Hum Genet
; 108(11): 2195-2204, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34715011
2.
Heritability and family-based GWAS analyses of the N-acyl ethanolamine and ceramide plasma lipidome.
Hum Mol Genet
; 30(6): 500-513, 2021 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33437986
3.
Treatment Adherence in a Randomized Controlled Trial of Pirfenidone in HFpEF: Determinants and Impact on Efficacy.
J Card Fail
; 29(7): 1091-1096, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36921885
4.
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot.
J Hum Genet
; 67(10): 613-615, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718831
5.
Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes.
J Hum Genet
; 67(2): 123-125, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34493817
6.
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 1952-1960, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113005
7.
The utility of cardiovascular imaging in heart failure with preserved ejection fraction: diagnosis, biological classification and risk stratification.
Heart Fail Rev
; 26(3): 661-678, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33155067
8.
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Circ Res
; 124(4): 553-563, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30582441
9.
Pirfenidone in Heart Failure with Preserved Ejection Fraction-Rationale and Design of the PIROUETTE Trial.
Cardiovasc Drugs Ther
; 33(4): 461-470, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31069575
10.
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Am J Hum Genet
; 97(4): 535-45, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26387595
11.
Remote management of heart failure using implantable electronic devices.
Eur Heart J
; 38(30): 2352-2360, 2017 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575235
12.
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
Hum Mutat
; 38(4): 426-438, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28058752
13.
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Am J Hum Genet
; 95(6): 698-707, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434003
14.
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
Am J Med Genet A
; 173(4): 1051-1055, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328138
15.
Molecular findings from 537 individuals with inherited retinal disease.
J Med Genet
; 53(11): 761-767, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27208204
16.
The renin-angiotensin-aldosterone system in heart failure for the non-specialist: the past, the present and the future.
Postgrad Med J
; 93(1095): 29-37, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27671772
17.
Binding interface change and cryptic variation in the evolution of protein-protein interactions.
BMC Evol Biol
; 16: 40, 2016 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26892785
18.
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 2013, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522030
19.
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Ophthalmology
; 123(5): 1143-50, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26872967
20.
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.
J Hum Genet
; 60(12): 781-5, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26377242