Detalhe da pesquisa
1.
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.
Exp Eye Res
; 244: 109945, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38815792
2.
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
Am J Hum Genet
; 107(5): 802-814, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33022222
3.
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
Genet Med
; 25(3): 100345, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524988
4.
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Hum Genet
; 141(3-4): 465-484, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34410491
5.
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
Am J Hum Genet
; 103(1): 74-88, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961571
6.
From the archives: Evolution of angiosperm self-incompatibility, genomic imprinting in wheat, and function of calnexin in the ER.
Plant Cell
; 35(1): 336-337, 2023 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36374641
7.
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.
J Med Genet
; 2020 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32631815
8.
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.
Int J Mol Sci
; 22(6)2021 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33799353
9.
Efficient Generation of Knock-In Zebrafish Models for Inherited Disorders Using CRISPR-Cas9 Ribonucleoprotein Complexes.
Int J Mol Sci
; 22(17)2021 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34502338
10.
Out in the cold: variation in the ZmbZIP68 promoter modulates cold tolerance in maize.
Plant Cell
; 34(8): 2813-2814, 2022 07 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35639500
11.
Global organization starts locally: Chromatin remodelers regulate genome architecture.
Plant Cell
; 34(7): 2576-2577, 2022 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35527705
12.
Eight (histone H4 genes) is too much: A CRISPR/Cas9 strategy to replace highly duplicated genes with a single modified version for mutational analysis.
Plant Cell
; 34(10): 3487-3488, 2022 09 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947755
13.
Phylogenomic Synteny Network Analysis of MADS-Box Transcription Factor Genes Reveals Lineage-Specific Transpositions, Ancient Tandem Duplications, and Deep Positional Conservation.
Plant Cell
; 29(6): 1278-1292, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28584165
14.
Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.
J Med Genet
; 55(10): 705-712, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30120214
15.
PISTILLATA paralogs in Tarenaya hassleriana have diverged in interaction specificity.
BMC Plant Biol
; 18(1): 368, 2018 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-30577806
16.
Comparative analysis of binding patterns of MADS-domain proteins in Arabidopsis thaliana.
BMC Plant Biol
; 18(1): 131, 2018 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29940855
17.
Evolution of DNA-Binding Sites of a Floral Master Regulatory Transcription Factor.
Mol Biol Evol
; 33(1): 185-200, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26429922
18.
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Hum Genet
; 141(3-4): 991, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34608567
19.
The Tarenaya hassleriana genome provides insight into reproductive trait and genome evolution of crucifers.
Plant Cell
; 25(8): 2813-30, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23983221
20.
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.
HGG Adv
; 5(3): 100314, 2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38816995