Detalhe da pesquisa
1.
Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab.
N Engl J Med
; 382(24): 2337-2343, 2020 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32521134
2.
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Proc Natl Acad Sci U S A
; 121(12): e2317601121, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38466850
3.
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 22(11): 1920, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32814847
4.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(5): 878-888, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949314
5.
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Genet Med
; 22(3): 490-499, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607746
6.
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(4): 822, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32047287
7.
A well-tolerated core needle muscle biopsy process suitable for children and adults.
Muscle Nerve
; 62(6): 688-698, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820569
8.
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 21(4): 850-860, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245513
9.
DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.
Hum Mutat
; 39(9): 1193-1202, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907980
10.
Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD.
Front Genet
; 14: 1216066, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37576554
11.
Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.
Brain Commun
; 5(2): fcad030, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36895955
12.
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
medRxiv
; 2023 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38234782
13.
Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue.
Commun Biol
; 5(1): 989, 2022 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36123393
14.
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.
Sci Adv
; 8(3): eabl5613, 2022 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35044823
15.
Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models.
Mol Ther Nucleic Acids
; 18: 580-589, 2019 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31678734
16.
Large in-frame 5' deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature.
Neuromuscul Disord
; 29(11): 863-873, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31672265
17.
Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.
Genome Med
; 9(1): 90, 2017 10 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29070057