Detalhe da pesquisa
1.
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Genet Med
; 24(6): 1316-1327, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35311657
2.
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Clin Genet
; 97(4): 567-575, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31997314
3.
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
Hum Mutat
; 40(12): 2430-2443, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31379041
4.
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.
Eur J Hum Genet
; 31(7): 761-768, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450799
5.
Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome.
Front Genet
; 13: 926290, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36226188
6.
Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.
Genes (Basel)
; 13(11)2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36360264
7.
RAS activation induces synthetic lethality of MEK inhibition with mitochondrial oxidative metabolism in acute myeloid leukemia.
Leukemia
; 36(5): 1237-1252, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35354920
8.
Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.
J Clin Med
; 9(8)2020 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32752152