Detalhe da pesquisa
1.
The epitranscriptome toolbox.
Cell
; 185(5): 764-776, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35245480
2.
N4-acetylation of Cytidine in mRNA by NAT10 Regulates Stability and Translation.
Cell
; 175(7): 1725-1727, 2018 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30550783
3.
The m6A epitranscriptome: transcriptome plasticity in brain development and function.
Nat Rev Neurosci
; 21(1): 36-51, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31804615
4.
Loud and Clear Epitranscriptomic m1A Signals: Now in Single-Base Resolution.
Mol Cell
; 68(5): 825-826, 2017 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220649
5.
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
J Med Genet
; 59(7): 691-696, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34215651
6.
RNA modifications: what have we learned and where are we headed?
Nat Rev Genet
; 17(6): 365-72, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27140282
7.
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.
Pediatr Nephrol
; 37(7): 1623-1646, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34993602
8.
The dynamic N(1)-methyladenosine methylome in eukaryotic messenger RNA.
Nature
; 530(7591): 441-6, 2016 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26863196
9.
Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3.
Genes Immun
; 21(5): 326-334, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32921793
10.
Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.
Hum Mutat
; 41(2): 476-486, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31692205
11.
Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community.
Clin Immunol
; 214: 108376, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32135276
12.
Nm-seq maps 2'-O-methylation sites in human mRNA with base precision.
Nat Methods
; 14(7): 695-698, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28504680
13.
A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.
Am J Med Genet A
; 182(5): 987-993, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32144877
14.
Gene expression regulation mediated through reversible m6A RNA methylation.
Nat Rev Genet
; 15(5): 293-306, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24662220
15.
Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene.
Pediatr Blood Cancer
; 67(6): e28237, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277798
16.
The Duffy antigen receptor for chemokines, ACKR1,- 'Jeanne DARC' of benign neutropenia.
Br J Haematol
; 184(4): 497-507, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30592023
17.
Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.
J Immunol
; 199(12): 4036-4045, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29127144
18.
Two phases of mitogenic signaling unveil roles for p53 and EGR1 in elimination of inconsistent growth signals.
Mol Cell
; 42(4): 524-35, 2011 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21596316
19.
Somatic NRAS mutation in patient with generalized lymphatic anomaly.
Angiogenesis
; 21(2): 287-298, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29397482
20.
Epigenetic loss of m1A RNA demethylase ALKBH3 in Hodgkin lymphoma targets collagen, conferring poor clinical outcome.
Blood
; 137(7): 994-999, 2021 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32915956