Detalhe da pesquisa
1.
Functional analysis of rare genetic variants in complement factor I in advanced age-related macular degeneration.
Hum Mol Genet
; 31(21): 3683-3693, 2022 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35531992
2.
Genome Sequencing as an Alternative to Cytogenetic Analysis in Myeloid Cancers.
N Engl J Med
; 384(10): 924-935, 2021 03 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704937
3.
A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.
Genet Med
; 25(3): 100348, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36571464
4.
Intraosseous hibernoma: clinicopathologic and imaging analysis of 18 cases.
Histopathology
; 83(1): 40-48, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37099409
5.
High-depth next-generation sequencing panel testing in the evaluation of arteriovenous malformations.
Am J Med Genet A
; 191(6): 1518-1524, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36924216
6.
Clinical whole-genome sequencing in cancer diagnosis.
Hum Mutat
; 43(11): 1519-1530, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471774
7.
Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort.
Am J Hum Genet
; 105(4): 734-746, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585106
8.
Expression of Potential Biomarker Targets by Immunohistochemistry in Cervical Carcinomas.
Int J Gynecol Pathol
; 41(6): 628-635, 2022 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35067601
9.
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.
Genet Med
; 22(6): 986-1004, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32203227
10.
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.
Am J Respir Cell Mol Biol
; 70(1): 78-80, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38156804
11.
Genome Sequencing in Myeloid Cancers. Reply.
N Engl J Med
; 384(25): e106, 2021 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161720
12.
Tumor suppression by cell competition through regulation of the Hippo pathway.
Proc Natl Acad Sci U S A
; 109(2): 484-9, 2012 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22190496
13.
Regulation of the Hippo pathway by cell architecture and mechanical signals.
Semin Cell Dev Biol
; 23(7): 803-11, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22750148
14.
Clinical whole-genome sequencing and FISH identify two different fusion partners for NUP98 in a patient with acute myeloid leukemia: A case report.
Cancer Genet
; 280-281: 1-5, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38056049
15.
Molecular Characterization of Multifocal Granular Cell Tumors.
Am J Surg Pathol
; 47(3): 326-332, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36534754
16.
Genomic landscape of TP53 -mutated myeloid malignancies.
medRxiv
; 2023 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36711871
17.
Genomic landscape of TP53-mutated myeloid malignancies.
Blood Adv
; 7(16): 4586-4598, 2023 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37339484
18.
Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations.
Front Pediatr
; 10: 944178, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36245745
19.
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Mol Genet Genomic Med
; 9(9): e1766, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34313030
20.
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.
Mol Genet Metab Rep
; 1: 362-367, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-27896109