Detalhe da pesquisa
1.
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Annu Rev Genomics Hum Genet
; 23: 331-361, 2022 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36044908
2.
Exome sequencing reveals a distinct somatic genomic landscape in breast cancer from women with germline PTEN variants.
Am J Hum Genet
; 109(8): 1520-1533, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35931053
3.
Quantitative trait locus (xQTL) approaches identify risk genes and drug targets from human non-coding genomes.
Hum Mol Genet
; 31(R1): R105-R113, 2022 10 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36018824
4.
A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.
Hum Mol Genet
; 31(20): 3393-3404, 2022 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35594551
5.
Risk-reducing mastectomy and breast cancer mortality in women with a BRCA1 or BRCA2 pathogenic variant: an international analysis.
Br J Cancer
; 130(2): 269-274, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38030749
6.
Clinical Spectrum and Science Behind the Hamartomatous Polyposis Syndromes.
Gastroenterology
; 164(5): 800-811, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36717037
7.
Germline PTEN genotype-dependent phenotypic divergence during the early neural developmental process of forebrain organoids.
Mol Psychiatry
; 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38030818
8.
The risk of skin cancer in women who carry BRCA1 or BRCA2 mutations.
Hered Cancer Clin Pract
; 22(1): 7, 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38741145
9.
Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes.
Am J Med Genet C Semin Med Genet
; 193(3): e32058, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534867
10.
Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma.
Hum Mol Genet
; 29(22): 3679-3690, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33326033
11.
Redefining the PTEN promoter: identification of novel upstream transcription start regions.
Hum Mol Genet
; 30(22): 2135-2148, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34218272
12.
mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion.
Hum Mol Genet
; 30(14): 1273-1282, 2021 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33822054
13.
The risks of cancer in older women with BRCA pathogenic variants: How far have we come?
Cancer
; 129(6): 901-907, 2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36571512
14.
An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships.
Am J Hum Genet
; 106(6): 818-829, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442409
15.
WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition.
N Engl J Med
; 382(22): 2103-2116, 2020 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32459922
16.
Tamoxifen and the risk of breast cancer in women with a BRCA1 or BRCA2 mutation.
Breast Cancer Res Treat
; 201(2): 257-264, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37432545
17.
A Randomized Trial Comparing the Effectiveness of Pre-test Genetic Counseling Using an Artificial Intelligence Automated Chatbot and Traditional In-person Genetic Counseling in Women Newly Diagnosed with Breast Cancer.
Ann Surg Oncol
; 30(10): 5990-5996, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37567976
18.
Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes.
Am J Med Genet A
; 191(7): 1741-1757, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37045800
19.
A network medicine approach to investigation and population-based validation of disease manifestations and drug repurposing for COVID-19.
PLoS Biol
; 18(11): e3000970, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33156843
20.
Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: Results of a multicenter cohort study.
J Am Acad Dermatol
; 89(1): 90-98, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35143913