Detalhe da pesquisa
1.
Central 22q11.2 deletion (LCR22 B-D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome.
Am J Med Genet A;
185(10): 3042-3047, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34196458
2.
Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers.
medRxiv;
2024 Feb 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38370823
3.
Development of Highly Efficient Universal Pneumocystis Primers and Their Application in Investigating the Prevalence and Genetic Diversity of Pneumocystis in Wild Hares and Rabbits.
J Fungi (Basel);
10(5)2024 May 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38786710
4.
Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.
JCI Insight;
8(10)2023 05 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37053013
5.
Swab-Seq: A high-throughput platform for massively scaled up SARS-CoV-2 testing.
medRxiv;
2021 Mar 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32909008
6.
Massively scaled-up testing for SARS-CoV-2 RNA via next-generation sequencing of pooled and barcoded nasal and saliva samples.
Nat Biomed Eng;
5(7): 657-665, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34211145