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Lamia Alsubaie
Lamia Alsubaie
Senior Genetic counselor
Verified email at ngha.med.sa
Title
Cited by
Cited by
Year
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
3172019
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
1542018
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
852017
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
612018
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders
Am J Med Genet A. 167 (3), 545-552, 2015
492015
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
302020
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
292021
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
262016
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
192018
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
122022
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
122022
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
102018
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
102018
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
82020
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
72022
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
42021
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
22020
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
12022
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
12019
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Articles 1–20