Detalhe da pesquisa
1.
Embracing cancer complexity: Hallmarks of systemic disease.
Cell
; 187(7): 1589-1616, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38552609
2.
Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical Signatures.
Cell
; 174(6): 1559-1570.e22, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100185
3.
Lung dendritic-cell metabolism underlies susceptibility to viral infection in diabetes.
Nature
; 624(7992): 645-652, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38093014
4.
The context-specific roles of urea cycle enzymes in tumorigenesis.
Mol Cell
; 81(18): 3749-3759, 2021 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34469752
5.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell
; 146(6): 889-903, 2011 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21925314
6.
Author Correction: BCAT1 restricts αKG levels in AML stem cells leading to IDHmut-like DNA hypermethylation.
Nature
; 560(7718): E28, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30069041
7.
BCAT1 restricts αKG levels in AML stem cells leading to IDHmut-like DNA hypermethylation.
Nature
; 551(7680): 384-388, 2017 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29144447
8.
Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition.
Clin Genet
; 101(4): 442-447, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34967012
9.
ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.
Hum Genet
; 140(10): 1471-1485, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34417872
10.
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.
Am J Hum Genet
; 103(2): 276-287, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30075114
11.
Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.
Nature
; 527(7578): 379-383, 2015 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26560030
12.
Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.
J Inherit Metab Dis
; 42(6): 1147-1161, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30723942
13.
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Hum Mol Genet
; 24(14): 4061-77, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25908615
14.
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Am J Hum Genet
; 95(2): 173-82, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25087610
15.
DUF1220-domain copy number implicated in human brain-size pathology and evolution.
Am J Hum Genet
; 91(3): 444-54, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22901949
16.
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
Am J Hum Genet
; 90(5): 836-46, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22541557
17.
Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.
Am J Hum Genet
; 88(4): 402-21, 2011 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21473982
18.
From the Inside Out: Exposing the Roles of Urea Cycle Enzymes in Tumors and Their Micro and Macro Environments.
Cold Spring Harb Perspect Med
; 14(4)2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37696657
19.
Phenylbutyrate therapy for maple syrup urine disease.
Hum Mol Genet
; 20(4): 631-40, 2011 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21098507
20.
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Hum Mol Genet
; 20(10): 1975-88, 2011 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21355048