Detalhe da pesquisa
1.
The co-evolution of the genome and epigenome in colorectal cancer.
Nature
; 611(7937): 733-743, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36289335
2.
Phenotypic plasticity and genetic control in colorectal cancer evolution.
Nature
; 611(7937): 744-753, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36289336
3.
MicroRNA-142 Critically Regulates Group 2 Innate Lymphoid Cell Homeostasis and Function.
J Immunol
; 206(11): 2725-2739, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34021046
4.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132690
5.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Am J Hum Genet
; 95(5): 611-21, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439728
6.
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
J Inherit Metab Dis
; 40(3): 385-394, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28255779
7.
Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.
J Med Genet
; 51(11): 748-55, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25194001
8.
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
J Med Genet
; 51(1): 61-7, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24203976
9.
Long-term Multimodal Recording Reveals Epigenetic Adaptation Routes in Dormant Breast Cancer Cells.
Cancer Discov
; 14(5): 866-889, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38527495
10.
Contribution of pks+ E. coli mutations to colorectal carcinogenesis.
Nat Commun
; 14(1): 7827, 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38030613
11.
Immune selection determines tumor antigenicity and influences response to checkpoint inhibitors.
Nat Genet
; 55(3): 451-460, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36894710
12.
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.
J Inherit Metab Dis
; 35(4): 589-601, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22231386
13.
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
J Clin Endocrinol Metab
; 107(1): e254-e263, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34402903
14.
An instructive role for Interleukin-7 receptor α in the development of human B-cell precursor leukemia.
Nat Commun
; 13(1): 659, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35115489
15.
Circulating tumour DNA sequencing to determine therapeutic response and identify tumour heterogeneity in patients with paediatric solid tumours.
Eur J Cancer
; 162: 209-220, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34933802
16.
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
Hum Mol Genet
; 18(12): 2257-65, 2009 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19336477
17.
Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene.
Pediatr Diabetes
; 12(3 Pt 1): 192-6, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21518409
18.
A single base-pair deletion in the WFS1 gene causes Wolfram syndrome.
J Pediatr Endocrinol Metab
; 24(5-6): 389-91, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21823543
19.
Mitochondrial Potentiation Ameliorates Age-Related Heterogeneity in Hematopoietic Stem Cell Function.
Cell Stem Cell
; 28(2): 241-256.e6, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33086034
20.
The onset of circulation triggers a metabolic switch required for endothelial to hematopoietic transition.
Cell Rep
; 37(11): 110103, 2021 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34910918