Detalhe da pesquisa
1.
An essential role for the Zn2+ transporter ZIP7 in B cell development.
Nat Immunol
; 20(3): 350-361, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30718914
2.
Large-scale benchmarking of circRNA detection tools reveals large differences in sensitivity but not in precision.
Nat Methods
; 20(8): 1159-1169, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37443337
3.
Feasibility and impact of haplogroup matching for mitochondrial replacement treatment.
EMBO Rep
; 24(10): e54540, 2023 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37589175
4.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gastroenterology
; 164(4): 579-592.e8, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586540
5.
Is HLA type a possible cancer risk modifier in Lynch syndrome?
Int J Cancer
; 152(10): 2024-2031, 2023 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214792
6.
An integrated transcriptional analysis of the developing human retina.
Development
; 146(2)2019 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696714
7.
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Circ Res
; 124(4): 553-563, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30582441
8.
Sequencing-based microsatellite instability testing using as few as six markers for high-throughput clinical diagnostics.
Hum Mutat
; 41(1): 332-341, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31471937
9.
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Genome Res
; 27(1): 165-173, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28003435
10.
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Genet Med
; 22(12): 2081-2088, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32773772
11.
Atl1 regulates choice between global genome and transcription-coupled repair of O(6)-alkylguanines.
Mol Cell
; 47(1): 50-60, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22658721
12.
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Hum Mutat
; 40(5): 649-655, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740824
13.
Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission.
J Am Acad Dermatol
; 81(6): 1300-1307, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31085270
14.
Analysis of human ES cell differentiation establishes that the dominant isoforms of the lncRNAs RMST and FIRRE are circular.
BMC Genomics
; 19(1): 276, 2018 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29678151
15.
Circular RNA enrichment in platelets is a signature of transcriptome degradation.
Blood
; 127(9): e1-e11, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26660425
16.
Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans.
PLoS Genet
; 11(5): e1005040, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25973765
17.
Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease.
J Am Soc Nephrol
; 28(4): 1084-1091, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27974406
18.
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.
J Clin Immunol
; 37(1): 42-50, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27807805
19.
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
Blood
; 125(4): 591-9, 2015 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-25359994
20.
metabolic profiling of Parkinson's disease and mild cognitive impairment.
Mov Disord
; 32(6): 927-932, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28394042