Detalhe da pesquisa
1.
Genome sequencing of C. elegans balancer strains reveals previously unappreciated complex genomic rearrangements.
Genome Res
; 33(1): 154-167, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36617680
2.
Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique.
Epilepsia
; 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38587282
3.
Whole genome sequencing facilitates intragenic variant interpretation following modifier screening in C. elegans.
BMC Genomics
; 22(1): 820, 2021 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34773966
4.
Influence of genetics and the pre-vaccination blood transcriptome on the variability of antibody levels after vaccination against Mycoplasma hyopneumoniae in pigs.
Genet Sel Evol
; 53(1): 24, 2021 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33731010
5.
Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.
Life Sci Alliance
; 7(4)2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38253421
6.
The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.
Genes (Basel)
; 14(1)2023 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672937
7.
Molecular basis of essential and morphological variations across 12 balancer strains in C. elegans.
MicroPubl Biol
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37313226
8.
A novel FAME1 repeat configuration in a European family identified using a combined genomics approach.
Epilepsia Open
; 8(2): 659-665, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36740228
9.
Model Organism Modifier (MOM): a user-friendly Galaxy workflow to detect modifiers from genome sequencing data using Caenorhabditis elegans.
G3 (Bethesda)
; 13(11)2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37585487
10.
Mitogen-induced defective mitosis transforms neural progenitor cells.
Neuro Oncol
; 25(10): 1763-1774, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37186014
11.
Rare disorders have many faces: in silico characterization of rare disorder spectrum.
Orphanet J Rare Dis
; 17(1): 76, 2022 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35193637
12.
Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia.
Front Genet
; 13: 815210, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35145552
13.
Deciphering complex genome rearrangements in C. elegans using short-read whole genome sequencing.
Sci Rep
; 11(1): 18258, 2021 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34521941
14.
Uncovering Missing Heritability in Rare Diseases.
Genes (Basel)
; 10(4)2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30987386
15.
The miRNA-targeted transcriptome of porcine alveolar macrophages upon infection with Porcine Reproductive and Respiratory Syndrome Virus.
Sci Rep
; 9(1): 3160, 2019 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30816147