Detalhe da pesquisa
1.
The NIH Somatic Cell Genome Editing program.
Nature
; 592(7853): 195-204, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33828315
2.
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Am J Hum Genet
; 110(6): 989-997, 2023 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37167966
3.
Designed architectural proteins that tune DNA looping in bacteria.
Nucleic Acids Res
; 49(18): 10382-10396, 2021 10 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34478548
4.
Mitochondrial Base Editing: Recent Advances towards Therapeutic Opportunities.
Int J Mol Sci
; 24(6)2023 Mar 18.
Artigo
Inglês
| MEDLINE | ID: mdl-36982871
5.
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
Am J Hum Genet
; 105(1): 108-121, 2019 07 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31204009
6.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33144682
7.
The Gene Sculpt Suite: a set of tools for genome editing.
Nucleic Acids Res
; 47(W1): W175-W182, 2019 07 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31127311
8.
Robust activation of microhomology-mediated end joining for precision gene editing applications.
PLoS Genet
; 14(9): e1007652, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30208061
9.
Characterization of Gene Repression by Designed Transcription Activator-like Effector Dimer Proteins.
Biophys J
; 119(10): 2045-2054, 2020 11 17.
Artigo
Inglês
| MEDLINE | ID: mdl-33091377
10.
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Genet Med
; 22(8): 1413-1417, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32366965
11.
Bacterial gene control by DNA looping using engineered dimeric transcription activator like effector (TALE) proteins.
Nucleic Acids Res
; 46(5): 2690-2696, 2018 03 16.
Artigo
Inglês
| MEDLINE | ID: mdl-29390154
12.
Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification.
Am J Med Genet A
; 179(9): 1764-1777, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31240838
13.
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.
J Clin Immunol
; 38(3): 307-319, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29671115
14.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36745126
15.
In vivo genome editing using a high-efficiency TALEN system.
Nature
; 491(7422): 114-8, 2012 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23000899
16.
Making designer mutants in model organisms.
Development
; 141(21): 4042-54, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25336735
17.
Forward Genetic Screening Using Behavioral Tests in Zebrafish: A Proof of Concept Analysis of Mutants.
Behav Genet
; 47(1): 125-139, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-27704300
18.
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.
Hum Mutat
; 37(10): 1097-105, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27397503
19.
A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype.
Haematologica
; 106(4): 1188-1192, 2021 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32646888
20.
The lineage-specific gene ponzr1 is essential for zebrafish pronephric and pharyngeal arch development.
Development
; 139(4): 793-804, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22274699