Detalhe da pesquisa
1.
Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development.
Hum Genet
; 142(8): 1201-1213, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36383254
2.
Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort.
Neurogenetics
; 23(2): 137-149, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35325322
3.
Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome.
Int J Mol Sci
; 22(4)2021 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33669700
4.
Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.
BMC Med Genet
; 20(1): 150, 2019 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31477031
5.
Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11-q13 imprinting region.
Brain Behav
; 14(4): e3437, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38616334
6.
Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.
Sci Rep
; 13(1): 21547, 2023 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38057384
7.
Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders.
Front Genet
; 14: 955631, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36959829
8.
Mutational Landscape of Autism Spectrum Disorder Brain Tissue.
Genes (Basel)
; 13(2)2022 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205252
9.
Analyzing single cell transcriptome data from severe COVID-19 patients.
STAR Protoc
; 3(2): 101379, 2022 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35582459
10.
Single-cell transcriptome identifies FCGR3B upregulated subtype of alveolar macrophages in patients with critical COVID-19.
iScience
; 24(9): 103030, 2021 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34458692
11.
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.
NPJ Genom Med
; 6(1): 14, 2021 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33594065
12.
Antibody-drug conjugate T-DM1 treatment for HER2+ breast cancer induces ROR1 and confers resistance through activation of Hippo transcriptional coactivator YAP1.
EBioMedicine
; 43: 211-224, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31085100
13.
Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes.
Mol Genet Genomic Med
; 7(10): e00954, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31475484
14.
An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome).
Clin Case Rep
; 6(8): 1426-1430, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30147876