Detalhe da pesquisa
1.
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.
Am J Hum Genet
; 108(3): 458-468, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33609447
2.
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hum Mutat
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38084291
3.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534744
4.
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
J Med Genet
; 58(5): 314-325, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32518176
5.
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1399-1415, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33927380
6.
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity.
J Med Genet
; 57(1): 62-69, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31391288
7.
Reconstruction of Distal Nasal Defects Using Free Cartilage Batten Grafting With Secondary Intention Healing: A Retrospective Case Series of 129 Patients.
Dermatol Surg
; 47(1): 86-93, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33165075
8.
Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders.
Nucleic Acids Res
; 47(10): e59, 2019 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30869147
9.
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Genet Med
; 22(4): 701-708, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31853058
10.
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.
Genet Med
; 22(2): 407-415, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31406321
11.
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.
Genet Med
; 21(4): 861-866, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30214068
12.
Design and Synthesis of Potent, Long-Acting Lipidated Relaxin-2 Analogs.
Bioconjug Chem
; 30(1): 83-89, 2019 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30543420
13.
Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing.
Gynecol Oncol
; 152(3): 612-617, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30612783
14.
Engineering a long-acting, potent GLP-1 analog for microstructure-based transdermal delivery.
Proc Natl Acad Sci U S A
; 113(15): 4140-5, 2016 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27035989
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.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Hum Mutat
; 39(11): 1553-1568, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311375
17.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum Mol Genet
; 25(11): 2256-2268, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008870
18.
Somatic TP53 variants frequently confound germ-line testing results.
Genet Med
; 20(8): 809-816, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29189820
19.
Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Genet Med
; 20(9): 1099-1102, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388939
20.
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
Breast Cancer Res Treat
; 161(3): 575-586, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28008555