Detalhe da pesquisa
1.
Post-translational modification-centric base editor screens to assess phosphorylation site functionality in high throughput.
Nat Methods
; 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38684783
2.
In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice.
Nature
; 589(7843): 608-614, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33408413
3.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965478
4.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet
; 109(12): 2270-2282, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368327
5.
Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.
Brain
; 147(1): 91-99, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37804319
6.
Search-and-replace genome editing without double-strand breaks or donor DNA.
Nature
; 576(7785): 149-157, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31634902
7.
Neural alignment during outgroup intervention predicts future change of affect towards outgroup.
Cereb Cortex
; 34(4)2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38566512
8.
Multiple Prenatal Exposures and Acute Care Clinical Encounters for Asthma among Children Born to Mothers Living near a Superfund Site.
Am J Epidemiol
; 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576180
9.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Am J Hum Genet
; 108(5): 929-941, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811806
10.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Genet Med
; 26(1): 101007, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37860968
11.
Ambient air pollution and rate of spontaneous abortion.
Environ Res
; 246: 118067, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38157969
12.
Rescue of hearing by adenine base editing in a humanized mouse model of Usher syndrome type 1F.
Mol Ther
; 31(8): 2439-2453, 2023 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37312453
13.
Evaluating COVID-19 Risk to Essential Workers by Occupational Group: A Case Study in Massachusetts.
J Community Health
; 49(1): 91-99, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37507525
14.
Acromion fractures after reverse shoulder arthroplasty occur in predictable clusters.
J Shoulder Elbow Surg
; 33(5): 1150-1156, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37944744
15.
Functional and radiographic results of anatomic total shoulder arthroplasty in the setting of subscapularis dysfunction: 5-year outcomes analysis.
J Shoulder Elbow Surg
; 33(2): e79-e87, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37473908
16.
Impact of humeral stem length on calcar resorption in anatomic total shoulder arthroplasty.
J Shoulder Elbow Surg
; 33(1): 130-138, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37419442
17.
Predictors of dislocations after reverse shoulder arthroplasty: a study by the ASES complications of RSA multicenter research group.
J Shoulder Elbow Surg
; 33(1): 73-81, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37379964
18.
Inequities in COVID-19 vaccine and booster coverage across Massachusetts ZIP codes after the emergence of Omicron: A population-based cross-sectional study.
PLoS Med
; 20(1): e1004167, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36719864
19.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Genet Med
; 25(7): 100835, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36999555
20.
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Clin Genet
; 103(2): 156-166, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36224108