Detalhe da pesquisa
1.
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Genet Med
; 25(7): 100861, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37087635
2.
Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.
Muscle Nerve
; 68(6): 833-840, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37789688
3.
Enhancing the didactic learning experience for Laboratory Genetics and Genomics fellows through a multi-institutional lecture series.
J Genet Couns
; 32(6): 1213-1216, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37571913
4.
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.
Genet Med
; 24(7): 1379-1391, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35608568
5.
Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma.
Hematol Oncol
; 40(3): 475-478, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35613340
6.
Single-cell DNA sequencing reveals a late-dissemination model in metastatic colorectal cancer.
Genome Res
; 27(8): 1287-1299, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28546418
7.
Clonal evolution in breast cancer revealed by single nucleus genome sequencing.
Nature
; 512(7513): 155-60, 2014 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25079324
8.
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Genet Med
; 20(4): 464-469, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28914269
9.
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.
Genet Med
; 24(9): 1992, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36063164
10.
Induced multipotency in adult keratinocytes through down-regulation of ΔNp63 or DGCR8.
Proc Natl Acad Sci U S A
; 111(5): E572-81, 2014 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24449888
11.
TAp63 suppresses metastasis through coordinate regulation of Dicer and miRNAs.
Nature
; 467(7318): 986-90, 2010 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-20962848
12.
Microarray-Based DNA Methylation Profiling: Validation Considerations for Clinical Testing.
J Mol Diagn
; 26(6): 447-455, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38378079
13.
Clinical Cytogenetics: Current Practices and Beyond.
J Appl Lab Med
; 9(1): 61-75, 2024 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38167757
14.
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.
Mol Genet Genomic Med
; 12(3): e2349, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263869
15.
Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome.
Eur J Med Genet
; 66(4): 104731, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36775013
16.
Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review.
Front Genet
; 14: 1298574, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38304066
17.
A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute.
J Mol Diagn
; 24(2): 177-188, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35074075
18.
A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties.
J Mol Diagn
; 24(9): 1031-1040, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718094
19.
Clinical Exome Reanalysis: Current Practice and Beyond.
Mol Diagn Ther
; 25(5): 529-536, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34283395
20.
A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening.
J Mol Diagn
; 23(1): 91-102, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33349347