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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 May 28.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-36524988
4.
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
J Med Genet
; 59(5): 438-444, 2022 05.
Article
in English
| MEDLINE | ID: mdl-33910932
5.
Clinical exome sequencing-Mistakes and caveats.
Hum Mutat
; 43(8): 1041-1055, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35191116
6.
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.
Hum Mol Genet
; 29(12): 2022-2034, 2020 07 29.
Article
in English
| MEDLINE | ID: mdl-32246154
7.
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield.
Genet Med
; 23(8): 1569-1573, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33846582
8.
Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing.
Mol Psychiatry
; 25(9): 2047-2057, 2020 09.
Article
in English
| MEDLINE | ID: mdl-30116028
9.
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.
BMC Med Genet
; 21(1): 96, 2020 05 07.
Article
in English
| MEDLINE | ID: mdl-32381069
10.
Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration.
Ophthalmology
; 125(7): 1064-1074, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29398083
11.
Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane.
Ophthalmology
; 125(9): 1433-1443, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29706360
12.
Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.
Clin Genet
; 94(6): 569-574, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30215852
13.
Epigenetic regulation of the ELOVL6 gene is associated with a major QTL effect on fatty acid composition in pigs.
Genet Sel Evol
; 47: 20, 2015 Mar 25.
Article
in English
| MEDLINE | ID: mdl-25887840
14.
New insight into the SSC8 genetic determination of fatty acid composition in pigs.
Genet Sel Evol
; 46: 28, 2014 Apr 23.
Article
in English
| MEDLINE | ID: mdl-24758572
15.
Analysis of porcine adipose tissue transcriptome reveals differences in de novo fatty acid synthesis in pigs with divergent muscle fatty acid composition.
BMC Genomics
; 14: 843, 2013 Dec 01.
Article
in English
| MEDLINE | ID: mdl-24289474
16.
Nutrition and Hydration for High-Altitude Alpinism: A Narrative Review.
Int J Environ Res Public Health
; 20(4)2023 02 11.
Article
in English
| MEDLINE | ID: mdl-36833880
17.
Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.
Genes (Basel)
; 14(8)2023 08 01.
Article
in English
| MEDLINE | ID: mdl-37628625
18.
ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
Front Genet
; 14: 1234032, 2023.
Article
in English
| MEDLINE | ID: mdl-37779911
19.
Liver transcriptome profile in pigs with extreme phenotypes of intramuscular fatty acid composition.
BMC Genomics
; 13: 547, 2012 Oct 11.
Article
in English
| MEDLINE | ID: mdl-23051667
20.
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
Orphanet J Rare Dis
; 17(1): 60, 2022 02 19.
Article
in English
| MEDLINE | ID: mdl-35183220