Detalhe da pesquisa
1.
Epstein-Barr virus reprograms human B lymphocytes immediately in the prelatent phase of infection.
Proc Natl Acad Sci U S A
; 116(32): 16046-16055, 2019 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31341086
2.
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.
Am J Hum Genet
; 102(6): 1018-1030, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754768
3.
Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humans.
Am J Physiol Endocrinol Metab
; 316(5): E866-E879, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30620635
4.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Am J Hum Genet
; 98(6): 1130-1145, 2016 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259049
5.
Transcriptome and genome sequencing uncovers functional variation in humans.
Nature
; 501(7468): 506-11, 2013 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24037378
6.
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.
Am J Hum Genet
; 96(5): 826-31, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25913036
7.
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Am J Hum Genet
; 97(1): 163-9, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26073778
8.
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
Am J Hum Genet
; 94(1): 11-22, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24360804
9.
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
10.
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
Am J Hum Genet
; 95(6): 708-20, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434004
11.
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.
N Engl J Med
; 370(11): 1019-28, 2014 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-24571724
12.
Characterization of circular RNAs in human, mouse and rat hearts.
J Mol Cell Cardiol
; 98: 103-7, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27476877
13.
Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.
Mamm Genome
; 27(3-4): 111-21, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26803617
14.
Time- and compartment-resolved proteome profiling of the extracellular niche in lung injury and repair.
Mol Syst Biol
; 11(7): 819, 2015 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26174933
15.
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
Am J Hum Genet
; 91(6): 1144-9, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23176820
16.
The genomic landscape of hepatoblastoma and their progenies with HCC-like features.
J Hepatol
; 61(6): 1312-20, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25135868
17.
Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
Am J Med Genet A
; 164A(8): 1976-80, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24798461
18.
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Lancet
; 380(9854): 1674-82, 2012 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23020937
19.
Resistance to mesenchymal reprogramming sustains clonal propagation in metastatic breast cancer.
Cell Rep
; 42(6): 112533, 2023 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37257449
20.
Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome.
iScience
; 25(1): 103596, 2022 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34988410