Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing A Alfares, T Aloraini, A Alissa, A Al Qudsi, A Alahmad, F Al Mutairi, ... Genetics in Medicine 20 (11), 1328-1333, 2018 | 149 | 2018 |
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay M Umair, M Ballow, A Asiri, Y Alyafee, A Al Tuwaijri, KM Alhamoudi, ... Clinical Genetics 98 (6), 555-561, 2020 | 30 | 2020 |
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly WL Macken, A Godwin, G Wheway, K Stals, L Nazlamova, S Ellard, ... Genome Medicine 13, 1-19, 2021 | 25 | 2021 |
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations A Alfares, L Alsubaie, T Aloraini, A Alaskar, A Althagafi, A Alahmad, ... BMC medical genomics 13, 1-8, 2020 | 15 | 2020 |
DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning A Althagafi, L Alsubaie, N Kathiresan, K Mineta, T Aloraini, F Al Mutairi, ... Bioinformatics 38 (6), 1677-1684, 2022 | 11 | 2022 |
Common disease-associated gene variants in a Saudi Arabian population M Aleissa, T Aloraini, LF Alsubaie, M Hassoun, G Abdulrahman, A Swaid, ... Annals of Saudi Medicine 42 (1), 29-35, 2022 | 10 | 2022 |
Genomic testing and counseling: the contribution of next‐generation sequencing to epilepsy genetics L Alsubaie, T Aloraini, M Amoudi, A Swaid, W Eyiad, F Al Mutairi, ... Annals of human genetics 84 (6), 431-436, 2020 | 8 | 2020 |
The diagnostic yield of CGH and WES in neurodevelopmental disorders RS Alotibi, NS Sannan, M AlEissa, MG Aldriwesh, A Al Tuwaijri, MA Akiel, ... Frontiers in Pediatrics 11, 1133789, 2023 | 5 | 2023 |
The rate of secondary genomic findings in the Saudi population T Aloraini, L Alsubaie, S Alasker, A Al Muitiri, A Alswaid, W Eyiad, ... American Journal of Medical Genetics Part A 188 (1), 83-88, 2022 | 5 | 2022 |
subaie LA, Alissa A, Qudsi AA, Alahmad A, et al. Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing A Alfares, T Aloraini Genet Med 20 (11), 1328-33, 2018 | 4 | 2018 |
Genetic carrier screening for disorders included in newborn screening in the Saudi population M Al Eissa, T Aloraini, L Alsubaie, A Alswaid, W Eyiad, F Al Mutairi, ... Journal of Biochemical and Clinical Genetics 4 (2), 70-70, 2021 | 3 | 2021 |
Attitudes of geneticists and patients toward incidental findings in Saudi Arabia T Aloraini, A Abdulrahim, GA Karbani IRB 37, 17, 2019 | 3 | 2019 |
MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database L Alsubaie, R Alkhalaf, T Aloraini, M Amoudi, A Swaid, F Al Mutairi, ... Annals of Human Genetics 84 (5), 370-379, 2020 | 2 | 2020 |
Prospect of genetic disorders in Saudi Arabia AS Alqahtani, RS Alotibi, T Aloraini, F Almsned, Y Alassali, A Alfares, ... Frontiers in Genetics 14, 1243518, 2023 | 1 | 2023 |
The variant artificial intelligence easy scoring (VARIES) system T Aloraini, A Aljouie, R Alniwaider, W Alharbi, L Alsubaie, W AlTuraif, ... Computers in Biology and Medicine 145, 105492, 2022 | 1 | 2022 |
Reclassifying variations of unknown significance in diseases affecting Saudi Arabia’s population reveal new associations MM Al Eissa, RS Alotibi, B Alhaddad, T Aloraini, MS Samman, A AlAsiri, ... Frontiers in Genetics 14, 1250317, 2023 | | 2023 |
Supplementary testing after negative or inconclusive exome sequencing results B AlMaarik, T Aloraini, R Paclejan, M Balwi, L Alsubaie, A Alswaid, ... Journal of Biochemical and Clinical Genetics 6 (1), 1-1, 2023 | | 2023 |
Genetic impact of non-consanguineous marriages in Saudi Arabia M Alyahya, T Aloraini, Y Al-Harbi, L Alsubaie, A Alswaid, W Eyaid, ... | | 2022 |
Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report R Almutairi, S Alrashidi, M Umair, M Alshalan, L Alsubaie, T Aloraini, ... Journal of Biochemical and Clinical Genetics 3 (1), 45-45, 2020 | | 2020 |
Comparison between the attitudes of genetics professionals and patients towards incidental findings from whole-genome or whole-exome sequencing TM Aloraini, A Gari, G AlKarbani EUROPEAN JOURNAL OF HUMAN GENETICS 27, 674-674, 2019 | | 2019 |