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1.
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
PLoS Genet
; 17(10): e1009848, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34662339
2.
Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model.
Hum Mutat
; 42(2): 189-199, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33252167
3.
A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
Hum Mol Genet
; 26(23): 4741-4751, 2017 12 01.
Article
in English
| MEDLINE | ID: mdl-28973684
4.
A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
Hum Mol Genet
; 25(12): 2483-2497, 2016 06 15.
Article
in English
| MEDLINE | ID: mdl-27106100
5.
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
Hum Genet
; 137(6-7): 447-458, 2018 Jul.
Article
in English
| MEDLINE | ID: mdl-29978320
6.
Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree.
Adv Exp Med Biol
; 1074: 219-228, 2018.
Article
in English
| MEDLINE | ID: mdl-29721947
7.
Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees.
Adv Exp Med Biol
; 1074: 229-236, 2018.
Article
in English
| MEDLINE | ID: mdl-29721948
8.
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
Physiol Genomics
; 49(4): 216-229, 2017 Apr 01.
Article
in English
| MEDLINE | ID: mdl-28130426
9.
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.
Physiol Genomics
; 48(12): 922-927, 2016 12 01.
Article
in English
| MEDLINE | ID: mdl-27764769
10.
Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration.
Cold Spring Harb Mol Case Stud
; 8(7)2022 12.
Article
in English
| MEDLINE | ID: mdl-36376065
11.
A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (Asrgl1) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype.
Genes (Basel)
; 13(8)2022 08 17.
Article
in English
| MEDLINE | ID: mdl-36011372
12.
Whole genome sequencing data of multiple individuals of Pakistani descent.
Sci Data
; 7(1): 350, 2020 10 13.
Article
in English
| MEDLINE | ID: mdl-33051442
13.
Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1.
Aging Cell
; 18(6): e13011, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31385385
14.
Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration.
Ophthalmic Genet
; 39(6): 763-770, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30451557
15.
Transcriptome Analysis of Orbital Adipose Tissue in Active Thyroid Eye Disease Using Next Generation RNA Sequencing Technology.
Open Ophthalmol J
; 12: 41-52, 2018.
Article
in English
| MEDLINE | ID: mdl-29760827
16.
Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.
Ophthalmic Genet
; 39(1): 73-79, 2018.
Article
in English
| MEDLINE | ID: mdl-28945494
17.
Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.
Genes (Basel)
; 8(9)2017 08 24.
Article
in English
| MEDLINE | ID: mdl-28837078
18.
Correction: Gustafson et al., Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes 2017, 8, 210.
Genes (Basel)
; 8(10)2017 10 23.
Article
in English
| MEDLINE | ID: mdl-29065517
19.
Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.
Ophthalmic Genet
; 37(1): 44-52, 2016.
Article
in English
| MEDLINE | ID: mdl-25007332
20.
Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.
PLoS One
; 10(9): e0136561, 2015.
Article
in English
| MEDLINE | ID: mdl-26352687
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