Detalhe da pesquisa
1.
Alternative splicing is a developmental switch for hTERT expression.
Mol Cell
; 81(11): 2349-2360.e6, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33852895
2.
Fundamental immune-oncogenicity trade-offs define driver mutation fitness.
Nature
; 606(7912): 172-179, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35545680
3.
Differential diagnosis of bone marrow failure syndromes guided by machine learning.
Blood
; 141(17): 2100-2113, 2023 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36542832
4.
Re-equilibration of imbalanced NAD metabolism ameliorates the impact of telomere dysfunction.
EMBO J
; 39(21): e103420, 2020 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32935380
5.
Spectrum and Excess Risk of Gastrointestinal Tumors in Li-Fraumeni Syndrome.
Clin Gastroenterol Hepatol
; 22(3): 662-665.e1, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37714395
6.
Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.
Hepatology
; 78(6): 1777-1787, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37184208
7.
Disease progression and clinical outcomes in telomere biology disorders.
Blood
; 139(12): 1807-1819, 2022 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34852175
8.
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
Blood
; 140(8): 909-921, 2022 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35776903
9.
Telomere length and cancer risk: finding Goldilocks.
Biogerontology
; 25(2): 265-278, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38109000
10.
Genome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic Anemia.
Am J Hum Genet
; 106(2): 264-271, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004448
11.
The distribution and accumulation of the shortest telomeres in telomere biology disorders.
Br J Haematol
; 203(5): 820-828, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37354000
12.
A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.
Genome Res
; 30(8): 1170-1180, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32817165
13.
Author Correction: Fundamental immune-oncogenicity trade-offs define driver mutation fitness.
Nature
; 606(7914): E5, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35641605
14.
Genetically predicted telomere length is associated with clonal somatic copy number alterations in peripheral leukocytes.
PLoS Genet
; 16(10): e1009078, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33090998
15.
No negative impact of word retraining on vocabulary use or clarity of communication in semantic dementia.
Neuropsychol Rehabil
; 33(2): 193-225, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34775908
16.
Successful word retraining, maintenance and transference of practice to everyday activities: A single case experimental design in early onset alcohol-induced brain damage.
Neuropsychol Rehabil
; 33(9): 1488-1511, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35984770
17.
Next-generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17.
Hum Mutat
; 43(12): 1856-1859, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36116037
18.
Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li-Fraumeni syndrome.
Breast Cancer Res Treat
; 191(1): 159-167, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652547
19.
Clinical outcomes in transient epileptic amnesia: A 10-year follow-up cohort study of 47 cases.
Epilepsia
; 63(5): 1115-1129, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35253220
20.
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
Pediatr Res
; 92(6): 1671-1680, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35322185