Detalhe da pesquisa
1.
Swarm Learning for decentralized and confidential clinical machine learning.
Nature
; 594(7862): 265-270, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34040261
2.
Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay.
EMBO J
; 41(10): e109191, 2022 05 16.
Artigo
Inglês
| MEDLINE | ID: mdl-35451084
3.
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4.
Am J Hum Genet
; 110(3): 442-459, 2023 03 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36812914
4.
Exon Junction Complexes Suppress Spurious Splice Sites to Safeguard Transcriptome Integrity.
Mol Cell
; 72(3): 482-495.e7, 2018 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30388410
5.
HMGB2 Loss upon Senescence Entry Disrupts Genomic Organization and Induces CTCF Clustering across Cell Types.
Mol Cell
; 70(4): 730-744.e6, 2018 05 17.
Artigo
Inglês
| MEDLINE | ID: mdl-29706538
6.
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Proc Natl Acad Sci U S A
; 120(22): e2211087120, 2023 05 30.
Artigo
Inglês
| MEDLINE | ID: mdl-37216524
7.
Oncogenic role and target properties of the lysine-specific demethylase KDM1A in chronic lymphocytic leukemia.
Blood
; 142(1): 44-61, 2023 07 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37023372
8.
Npl3 functions in mRNP assembly by recruitment of mRNP components to the transcription site and their transfer onto the mRNA.
Nucleic Acids Res
; 51(2): 831-851, 2023 01 25.
Artigo
Inglês
| MEDLINE | ID: mdl-36583366
9.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Am J Hum Genet
; 108(2): 357-367, 2021 02 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33508234
10.
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
Brain
; 146(4): 1342-1356, 2023 04 19.
Artigo
Inglês
| MEDLINE | ID: mdl-36226386
11.
Exon junction complex-associated multi-adapter RNPS1 nucleates splicing regulatory complexes to maintain transcriptome surveillance.
Nucleic Acids Res
; 50(10): 5899-5918, 2022 06 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35640609
12.
ENHANCED GRAVITROPISM 2 encodes a STERILE ALPHA MOTIF-containing protein that controls root growth angle in barley and wheat.
Proc Natl Acad Sci U S A
; 118(35)2021 08 31.
Artigo
Inglês
| MEDLINE | ID: mdl-34446550
13.
Genomic ALK alterations in primary and relapsed neuroblastoma.
Br J Cancer
; 128(8): 1559-1571, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36807339
14.
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Hum Genet
; 142(4): 543-552, 2023 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-36943452
15.
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Am J Hum Genet
; 107(1): 34-45, 2020 07 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32497488
16.
A comparison of metabolic labeling and statistical methods to infer genome-wide dynamics of RNA turnover.
Brief Bioinform
; 22(6)2021 11 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34228787
17.
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.
Clin Genet
; 103(4): 484-491, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36576126
18.
Mutations in TAF8 cause a neurodegenerative disorder.
Brain
; 145(9): 3022-3034, 2022 09 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35759269
19.
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
J Med Genet
; 59(6): 549-553, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34172529
20.
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
J Med Genet
; 59(3): 248-252, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33273034