Detalhe da pesquisa
1.
Roles and interactions of tumor microenvironment components in medulloblastoma with implications for novel therapeutics.
Genes Chromosomes Cancer
; 63(4): e23233, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38607297
2.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Genet Med
; 26(3): 101036, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054408
3.
Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumor-only versus paired tumor-normal sequencing.
Haematologica
; 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38385299
4.
Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.
Am J Med Genet A
; 194(5): e63530, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38197511
5.
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.
J Pediatr
; 262: 113620, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37473993
6.
B-cell acute lymphoblastic leukemia and juvenile xanthogranuloma in a patient with ETV6 thrombocytopenia and leukemia predisposition syndrome: novel clinical presentation and perspective.
Haematologica
; 2023 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38031764
7.
Long-read sequencing for molecular diagnostics in constitutional genetic disorders.
Hum Mutat
; 43(11): 1531-1544, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36086952
8.
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Hum Mutat
; 43(12): 1837-1843, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35870179
9.
IL-1R1 blockade attenuates liver injury through inhibiting the recruitment of myeloid-derived suppressor cells in sepsis.
Biochem Biophys Res Commun
; 620: 21-28, 2022 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35777130
10.
Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.
J Transl Med
; 18(1): 293, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738923
11.
Glanzmann thrombasthenia: genetic basis and clinical correlates.
Haematologica
; 105(4): 888-894, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32139434
12.
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Genet Med
; 21(11): 2442-2452, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160754
13.
Atypical teratoid/rhabdoid tumour-TYR subtype arising in the setting of germline ring chromosome 22: An uncommon form of tumour predisposition.
Neuropathol Appl Neurobiol
; 50(2): e12971, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38488196
14.
Sclerosing Epithelioid Fibrosarcoma of the Bone With Rare EWSR1-CREB3L3 Translocation Driving Upregulation of the PI3K/mTOR Signaling Pathway.
Pediatr Dev Pathol
; 22(6): 594-598, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31335288
15.
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.
Hum Mutat
; 39(11): 1542-1552, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311369
16.
AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.
Genet Med
; 20(12): 1600-1608, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29595809
17.
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Genet Med
; 20(3): 329-336, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29389922
18.
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Genet Med
; 20(11): 1486, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29419820
19.
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Genet Med
; 20(12): 1663-1676, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907799
20.
Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing.
Clin Chem
; 2023 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37170750