Detalhe da pesquisa
1.
A T-cell antigen atlas for meningioma: novel options for immunotherapy.
Acta Neuropathol
; 146(2): 173-190, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37368072
2.
The whole-genome landscape of medulloblastoma subtypes.
Nature
; 547(7663): 311-317, 2017 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28726821
3.
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
PLoS Genet
; 16(11): e1009106, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33151932
4.
Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer.
Mol Genet Genomics
; 297(4): 965-979, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35562597
5.
Comprehensive genomic analysis of refractory multiple myeloma reveals a complex mutational landscape associated with drug resistance and novel therapeutic vulnerabilities.
Haematologica
; 107(8): 1891-1901, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35045690
6.
Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer.
Int J Mol Sci
; 23(3)2022 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163215
7.
Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma.
Int J Mol Sci
; 23(9)2022 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563565
8.
Molecular profiling of pediatric meningiomas shows tumor characteristics distinct from adult meningiomas.
Acta Neuropathol
; 142(5): 873-886, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34495383
9.
A rare large duplication of MLH1 identified in Lynch syndrome.
Hered Cancer Clin Pract
; 19(1): 10, 2021 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33468175
10.
Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer.
Int J Mol Sci
; 22(4)2021 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33673279
11.
Mutational patterns and regulatory networks in epigenetic subgroups of meningioma.
Acta Neuropathol
; 138(2): 295-308, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31069492
12.
TALEN/CRISPR-mediated engineering of a promoterless anti-viral RNAi hairpin into an endogenous miRNA locus.
Nucleic Acids Res
; 45(1): e3, 2017 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27614072
13.
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency.
Genet Med
; 20(7): 728-736, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261175
14.
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
Mol Genet Metab
; 123(3): 364-374, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29396028
15.
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
Mol Genet Metab
; 121(4): 297-307, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28688840
16.
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
Am J Med Genet A
; 173(7): 1878-1886, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28489334
17.
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
Am J Med Genet A
; 173(5): 1369-1373, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371085
18.
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
J Med Genet
; 53(2): 138-44, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26566883
19.
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
Am J Med Genet A
; 170(6): 1502-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27016154
20.
Pedigree based DNA sequencing pipeline for germline genomes of cancer families.
Hered Cancer Clin Pract
; 14: 16, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27508007