Detalhe da pesquisa
1.
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
Am J Med Genet A
; 188(3): 926-930, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34825470
2.
Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia.
Am J Med Genet A
; 188(5): 1589-1594, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35122461
3.
Comprehensive genomic profiling of glioblastoma tumors, BTICs, and xenografts reveals stability and adaptation to growth environments.
Proc Natl Acad Sci U S A
; 116(38): 19098-19108, 2019 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31471491
4.
Slow Off-Rate Modified Aptamer (SOMAmer) Proteomic Analysis of Patient-Derived Malignant Glioma Identifies Distinct Cellular Proteomes.
Int J Mol Sci
; 22(17)2021 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34502484
5.
Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
Genet Med
; 22(11): 1892-1897, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32624572
6.
Hypermutation signature reveals a slippage and realignment model of translesion synthesis by Rev3 polymerase in cisplatin-treated yeast.
Proc Natl Acad Sci U S A
; 114(10): 2663-2668, 2017 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28223526
7.
Clonal expansion and epigenetic reprogramming following deletion or amplification of mutant IDH1.
Proc Natl Acad Sci U S A
; 114(40): 10743-10748, 2017 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28916733
8.
Whole genome transcriptome analysis in a case of a neonatal soft tissue sarcoma with YWHAE:NUTM2B fusion.
Pediatr Blood Cancer
; 70(7): e30310, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37016844
9.
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.
Am J Hum Genet
; 94(6): 809-17, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906018
10.
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
Am J Med Genet A
; 173(11): 3087-3092, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28898540
11.
A novel mutation in EED associated with overgrowth.
J Hum Genet
; 60(6): 339-42, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25787343
12.
Diagnostic value of next-generation sequencing in an unusual sphenoid tumor.
Oncologist
; 19(6): 623-30, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24807916
13.
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype.
Neurol Genet
; 10(1): e200114, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38170145
14.
Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.
Nat Commun
; 15(1): 4165, 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38755180
15.
Ortholog identification in the presence of domain architecture rearrangement.
Brief Bioinform
; 12(5): 413-22, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21712343
16.
Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing.
Eur J Hum Genet
; 31(5): 602-606, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797466
17.
macroH2A2 antagonizes epigenetic programs of stemness in glioblastoma.
Nat Commun
; 14(1): 3062, 2023 05 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37244935
18.
Distribution and properties of the genes encoding the biosynthesis of the bacterial cofactor, pyrroloquinoline quinone.
Biochemistry
; 51(11): 2265-75, 2012 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22324760
19.
Corrigendum: A novel mutation in EED associated with overgrowth.
J Hum Genet
; 62(2): 341-342, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28119537
20.
Genomic analysis of the basal lineage fungus Rhizopus oryzae reveals a whole-genome duplication.
PLoS Genet
; 5(7): e1000549, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19578406