Taghrid Aloraini
Overview
Explore the profile of Taghrid Aloraini including associated specialties, affiliations and a list of published articles.
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Articles
13
Citations
143
Followers
0
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Recent Articles
1.
Alotibi R, Al Eissa M, Aloraini T, Nasser K, Al Shammari M, Alqahtani A
Saudi J Med Med Sci
. 2024 Nov;
12(4):292-298.
PMID: 39539796
Background: Structural variants (SVs), such as copy number variants (CNVs), insertions, deletions, inversions, and translocations, contribute significantly to genetic diversity and disease etiology. CNVs, which involve the duplication or deletion...
2.
Al Eissa M, Alotibi R, Alhaddad B, Aloraini T, Samman M, Alasiri A, et al.
Front Genet
. 2023 Nov;
14:1250317.
PMID: 38028588
Physicians face diagnostic dilemmas upon reports indicating disease variants of unknown significance (VUS). The most puzzling cases are patients with rare diseases, where finding another matched genotype and phenotype to...
3.
Alqahtani A, Alotibi R, Aloraini T, Almsned F, Alassali Y, Alfares A, et al.
Front Genet
. 2023 Oct;
14:1243518.
PMID: 37799141
Rare diseases (RDs) create a massive burden for governments and families because sufferers of these diseases are required to undergo long-term treatment or rehabilitation to maintain a normal life. In...
4.
Aloraini T, Aljouie A, Alniwaider R, Alharbi W, Alsubaie L, AlTuraif W, et al.
Comput Biol Med
. 2022 May;
145:105492.
PMID: 35585733
Purpose: Medical artificial intelligence (MAI) is artificial intelligence (AI) applied to the healthcare field. AI can be applied to many different aspects of genetics, such as variant classification. With little...
5.
AlEissa M, Aloraini T, Alsubaie L, Hassoun M, Abdulrahman G, Swaid A, et al.
Ann Saudi Med
. 2022 Feb;
42(1):29-35.
PMID: 35112591
Background: Screening programs for the most prevalent conditions occurring in a country is an evidence-based prevention strategy. The burden of autosomal recessive disease variations in Saudi Arabia is high because...
6.
Althagafi A, Alsubaie L, Kathiresan N, Mineta K, Aloraini T, Al Mutairi F, et al.
Bioinformatics
. 2021 Dec;
38(6):1677-1684.
PMID: 34951628
Motivation: Structural genomic variants account for much of human variability and are involved in several diseases. Structural variants are complex and may affect coding regions of multiple genes, or affect...
7.
Aloraini T, Alsubaie L, Alasker S, Al Muitiri A, Alswaid A, Eyiad W, et al.
Am J Med Genet A
. 2021 Sep;
188(1):83-88.
PMID: 34515413
Secondary findings (SF) are defined as genetic conditions discovered unintentionally during an evaluation of raw data for another disease. We aimed to identify the rate of secondary genetic findings in...
8.
Macken W, Godwin A, Wheway G, Stals K, Nazlamova L, Ellard S, et al.
Genome Med
. 2021 Feb;
13(1):34.
PMID: 33632302
Background: Coat protein complex 1 (COPI) is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum (ER). In recent years,...
9.
Umair M, Ballow M, Asiri A, Alyafee Y, Al Tuwaijri A, Alhamoudi K, et al.
Clin Genet
. 2020 Sep;
98(6):555-561.
PMID: 32869858
In recent years, several genes have been implicated in the variable disease presentation of global developmental delay (GDD) and intellectual disability (ID). The endoplasmic reticulum membrane protein complex (EMC) family...
10.
Alfares A, Alsubaie L, Aloraini T, Alaskar A, Althagafi A, Alahmad A, et al.
BMC Med Genomics
. 2020 Jul;
13(1):103.
PMID: 32680510
Background: Testing strategies is crucial for genetics clinics and testing laboratories. In this study, we tried to compare the hit rate between solo and trio and trio plus testing and...