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Journal of Pathology Informatics|June 19, 2026
An integrated AI pipeline for automated cytogenetic analysis of bone marrow karyograms in hematological malignancies: A Pix2Pix enhancement and deep learning detection approachLamia Alsubaie, Sarah Alsobaie, Nawaf Alhammad, et al.
Annals of Human Genetics|December 23, 2017
A new association between CDK5RAP2 microcephaly and congenital cataractsAhmed Alfares, Ibtihal Alhufayti, Lamia Alsubaie, et al.
Annals of Human Genetics|May 14, 2020
MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific databaseLamia Alsubaie, Randa Alkhalaf, Taghrid Aloraini, et al.
Journal of Global Oncology|September 11, 2018
Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast CancerOmalkhair Abulkhair, Mohammed Al Balwi, Ola Makram, et al.
Bioinformatics (Oxford, England)|December 24, 2021
DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learningAzza Althagafi, Lamia Alsubaie, Nagarajan Kathiresan, et al.
American Journal of Medical Genetics. Part A|September 13, 2021
The rate of secondary genomic findings in the Saudi populationTaghrid Aloraini, Lamia Alsubaie, Sarah Alasker, et al.
Computers in Biology and Medicine|May 19, 2022
The variant artificial intelligence easy scoring (VARIES) systemTaghrid Aloraini, Abdulrhman Aljouie, Rashed Alniwaider, et al.
Clinical Genetics|September 2, 2020
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delayMuhammad Umair, Mariam Ballow, Abdulaziz Asiri, et al.
The Oncologist|August 15, 2018
Durable Response to Nivolumab in a Pediatric Patient with Refractory Glioblastoma and Constitutional Biallelic Mismatch Repair DeficiencyMusa AlHarbi, Nahla Ali Mobark, Latifa AlMubarak, et al.
Annals of Human Genetics|June 14, 2020
Genomic testing and counseling: The contribution of next-generation sequencing to epilepsy geneticsLamia Alsubaie, Taghrid Aloraini, Manal Amoudi, et al.
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