| The global state of the genetic counseling profession MA Abacan, L Alsubaie, K Barlow-Stewart, B Caanen, C Cordier, ... European Journal of Human Genetics 27 (2), 183-197, 2019 | 302 | 2019 |
| 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 |
| A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield A Alfares, M Alfadhel, T Wani, S Alsahli, I Alluhaydan, F Al Mutairi, ... Molecular genetics and metabolism 121 (2), 91-95, 2017 | 84 | 2017 |
| Durable response to nivolumab in a pediatric patient with refractory glioblastoma and constitutional biallelic mismatch repair deficiency M AlHarbi, N Ali Mobark, L AlMubarak, R Aljelaify, M AlSaeed, A Almutairi, ... The oncologist 23 (12), 1401-1406, 2018 | 60 | 2018 |
| Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders Am J Med Genet A. 167 (3), 545-552, 2015 | 49 | 2015 |
| 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, 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 |
| Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum L Jouan, B Ouled Amar Bencheikh, H Daoud, A Dionne-Laporte, ... European Journal of Human Genetics 24 (4), 607-610, 2016 | 25 | 2016 |
| Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer O Abulkhair, M Al Balwi, O Makram, L Alsubaie, M Faris, H Shehata, ... Journal of Global Oncology 4, JGO. 18.00066, 2018 | 16 | 2018 |
| What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations BMC Med Genomics 13 (1), 103, 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 |
| A new association between CDK5RAP2 microcephaly and congenital cataracts A Alfares, I Alhufayti, L Alsubaie, M Alowain, R Almass, M Alfadhel, ... Annals of Human Genetics 82 (3), 165-170, 2018 | 10 | 2018 |
| 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 |
| Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family M AlHarbi, N Mubarak, L AlMubarak, R Aljelaify, M AlSaeed, A Almutairi, ... NPJ Genomic Medicine 3 (1), 35, 2018 | 8 | 2018 |
| 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 |
| 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 |
| 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 |
| 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 |
| Clinical reassessment of post-laboratory variant call format (VCF) files L Alsubaie, S Alturki, A Alothaim, A Alfares Journal of Biochemical and Clinical Genetics 1 (1), 31-31, 2019 | 1 | 2019 |
