Detalhe da pesquisa
1.
CRISPR-Barcoding for Intratumor Genetic Heterogeneity Modeling and Functional Analysis of Oncogenic Driver Mutations.
Mol Cell
; 63(3): 526-38, 2016 08 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27453044
2.
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.
Hum Genet
; 142(1): 125-138, 2023 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-36138164
3.
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
Hum Genet
; 142(6): 773-783, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-37076692
4.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
J Med Genet
; 59(4): 377-384, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33737400
5.
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
Hum Mutat
; 43(9): 1239-1248, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35446447
6.
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Hum Mutat
; 43(12): 1882-1897, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35842780
7.
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
Inglês
| MEDLINE | ID: mdl-35311657
8.
Blood functional assay for rapid clinical interpretation of germline TP53 variants.
J Med Genet
; 58(12): 796-805, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33051313
9.
TRIM33 gene somatic mutations identified by next generation sequencing in neoplasms of patients with anti-TIF1γ positive cancer-associated dermatomyositis.
Rheumatology (Oxford)
; 60(12): 5863-5867, 2021 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33764396
10.
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Hum Mutat
; 41(5): 926-933, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32058622
11.
A recurrent clonally distinct Burkitt lymphoma case highlights genetic key events contributing to oncogenesis.
Genes Chromosomes Cancer
; 58(8): 595-601, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30779244
12.
Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.
Am J Med Genet A
; 179(11): 2257-2262, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31390136
13.
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.
J Med Genet
; 55(3): 173-180, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29070607
14.
Familial solitary chondrosarcoma resulting from germline EXT2 mutation.
Genes Chromosomes Cancer
; 56(2): 128-134, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27636706
15.
Germline mutations of inhibins in early-onset ovarian epithelial tumors.
Hum Mutat
; 35(3): 294-7, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24302632
16.
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Sci Rep
; 14(1): 5289, 2024 03 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38438430
17.
Disequilibrium between BRCA1 and BRCA2 Circular and Messenger RNAs Plays a Role in Breast Cancer.
Cancers (Basel)
; 15(7)2023 Apr 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37046838
18.
EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics.
BMC Bioinformatics
; 13 Suppl 14: S9, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-23095660
19.
Detecting inversions in routine molecular diagnosis in MMR genes.
Fam Cancer
; 21(4): 423-428, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34997397
20.
Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.
Eur J Med Genet
; 65(9): 104556, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-35781022