Detalhe da pesquisa
1.
Statistical methods for assessing the effects of de novo variants on birth defects.
Hum Genomics
; 18(1): 25, 2024 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38486307
2.
Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease.
PLoS Genet
; 18(6): e1010252, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35671298
3.
M-DATA: A statistical approach to jointly analyzing de novo mutations for multiple traits.
PLoS Genet
; 17(11): e1009849, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34735430
4.
Integrated mutational landscape analysis of uterine leiomyosarcomas.
Proc Natl Acad Sci U S A
; 118(15)2021 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33876771
5.
Elimusertib (BAY1895344), a novel ATR inhibitor, demonstrates in vivo activity in ATRX mutated models of uterine leiomyosarcoma.
Gynecol Oncol
; 168: 157-165, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36442427
6.
Uterine leiomyosarcomas harboring MAP2K4 gene amplification are sensitive in vivo to PLX8725, a novel MAP2K4 inhibitor.
Gynecol Oncol
; 172: 65-71, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36958197
7.
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
J Lipid Res
; 63(6): 100209, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460704
8.
A phase 2 evaluation of pembrolizumab for recurrent Lynch-like versus sporadic endometrial cancers with microsatellite instability.
Cancer
; 128(6): 1206-1218, 2022 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34875107
9.
Mutational landscape of primary, metastatic, and recurrent ovarian cancer reveals c-MYC gains as potential target for BET inhibitors.
Proc Natl Acad Sci U S A
; 116(2): 619-624, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30584090
10.
Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy.
Proc Natl Acad Sci U S A
; 116(45): 22730-22736, 2019 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31624127
11.
A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts.
J Assist Reprod Genet
; 37(2): 471-475, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31916079
12.
GemC1 is a critical switch for neural stem cell generation in the postnatal brain.
Glia
; 67(12): 2360-2373, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31328313
13.
Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing.
Clin Genet
; 96(5): 473-477, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31389005
14.
Clonal evolution analysis of paired anaplastic and well-differentiated thyroid carcinomas reveals shared common ancestor.
Genes Chromosomes Cancer
; 57(12): 645-652, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30136351
15.
Corrigendum to "Elimusertib (BAY1895344), a novel ATR inhibitor, demonstrates in vivo activity in ATRX mutated models of uterine leiomyosarcoma".
Gynecol Oncol
; 170: 334, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36906375
16.
Correction to: A contiguous microdeletion syndrome at Xp22.13 with non-obstructive azoospermia and congenital cataracts.
J Assist Reprod Genet
; 38(9): 2501, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34146212
17.
Mitochondrial prohibitin and its ubiquitination during crayfish Procambarus clarkii spermiogenesis.
Cell Tissue Res
; 359(2): 679-692, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25418137
18.
Clinical Biochemistry of Serum Troponin.
Diagnostics (Basel)
; 14(4)2024 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38396417
19.
Nonexercise machine learning models for maximal oxygen uptake prediction in national population surveys.
J Am Med Inform Assoc
; 30(5): 943-952, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36905605
20.
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.
Nat Med
; 29(3): 667-678, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36879130