Detalhe da pesquisa
1.
Macrophage PPARγ, a Lipid Activated Transcription Factor Controls the Growth Factor GDF3 and Skeletal Muscle Regeneration.
Immunity
; 45(5): 1038-1051, 2016 11 15.
Artigo
Inglês
| MEDLINE | ID: mdl-27836432
2.
Inflammasome-driven catecholamine catabolism in macrophages blunts lipolysis during ageing.
Nature
; 550(7674): 119-123, 2017 10 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28953873
3.
SMAD2 and SMAD3 differentially regulate adiposity and the growth of subcutaneous white adipose tissue.
FASEB J
; 35(12): e22018, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34731499
4.
Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana.
Am J Hum Genet
; 102(5): 731-743, 2018 05 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29706352
5.
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Am J Hum Genet
; 103(1): 154-162, 2018 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29961569
6.
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Am J Hum Genet
; 101(4): 503-515, 2017 Oct 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28942966
7.
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Am J Med Genet A
; 182(1): 38-52, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31782611
8.
Absence of heterozygosity due to template switching during replicative rearrangements.
Am J Hum Genet
; 96(4): 555-64, 2015 Apr 02.
Artigo
Inglês
| MEDLINE | ID: mdl-25799105
9.
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
Hum Mutat
; 38(10): 1365-1371, 2017 10.
Artigo
Inglês
| MEDLINE | ID: mdl-28649782
10.
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Am J Hum Genet
; 95(5): 565-78, 2014 Nov 06.
Artigo
Inglês
| MEDLINE | ID: mdl-25439725
11.
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Am J Hum Genet
; 95(5): 579-83, 2014 Nov 06.
Artigo
Inglês
| MEDLINE | ID: mdl-25439098
12.
Combinatorial actions of Tgfß and Activin ligands promote oligodendrocyte development and CNS myelination.
Development
; 141(12): 2414-28, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24917498
13.
The collaborative African genomics network training program: a trainee perspective on training the next generation of African scientists.
Genet Med
; 19(7): 826-833, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28383545
14.
Correction: Combinatorial actions of Tgfß and Activin ligands promote oligodendrocyte development and CNS myelination (doi:10.1242/dev.106492).
Development
; 145(13)2018 07 13.
Artigo
Inglês
| MEDLINE | ID: mdl-30006479
15.
Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing.
Genet Med
; 17(10): 831-5, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25569436
16.
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Hum Mutat
; 34(10): 1415-23, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23878096
17.
Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.
Clin Genet
; 83(5): 457-461, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22901280
18.
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.
Am J Hum Genet
; 85(5): 593-605, 2009 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-19836010
19.
Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies.
Front Genet
; 12: 766316, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34899850
20.
Unmapped exome reads implicate a role for Anelloviridae in childhood HIV-1 long-term non-progression.
NPJ Genom Med
; 6(1): 24, 2021 Mar 19.
Artigo
Inglês
| MEDLINE | ID: mdl-33741997