Detalhe da pesquisa
1.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Am J Hum Genet
; 110(2): 251-272, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669495
2.
An 8q24 Gain in Pancreatic Juice Is a Candidate Biomarker for the Detection of Pancreatic Cancer.
Int J Mol Sci
; 24(6)2023 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36982172
3.
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Hum Mutat
; 43(12): 2130-2140, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36251260
4.
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.
BMC Med Genet
; 16: 10, 2015 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25927202
5.
Evaluation of Circulating Tumor DNA as a Liquid Biomarker in Uveal Melanoma.
Invest Ophthalmol Vis Sci
; 65(2): 11, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38319670
6.
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations.
Nat Genet
; 31(1): 55-9, 2002 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11967536
7.
What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?
Mol Cytogenet
; 16(1): 26, 2023 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37775759
8.
Liquid Biopsies for Colorectal Cancer and Advanced Adenoma Screening and Surveillance: What to Measure?
Cancers (Basel)
; 15(18)2023 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37760576
9.
Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.
Fam Cancer
; 10(1): 127-32, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20972631
10.
Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism.
Eur J Hum Genet
; 19(9): 1009-12, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21487440
11.
Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality.
Genet Test Mol Biomarkers
; 13(3): 399-406, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19405878