Hajer Mahmoud Al-Mulla
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View article: O63: Leveraging global and local genomic data to guide equitable carrier screening: From Genome Aggregation Database (gnomAD) to Qatar Genome
O63: Leveraging global and local genomic data to guide equitable carrier screening: From Genome Aggregation Database (gnomAD) to Qatar Genome Open
View article: <i>BRCA1</i>-specific machine learning model predicts variant pathogenicity with high accuracy
<i>BRCA1</i>-specific machine learning model predicts variant pathogenicity with high accuracy Open
Identification of novel BRCA1 variants outpaces their clinical annotation which highlights the importance of developing accurate computational methods for risk assessment. Therefore our aim was to develop a BRCA1-specific machine learning …
View article: BRCA1-specific machine learning model predicts variant pathogenicity with high accuracy - Supplementary material
BRCA1-specific machine learning model predicts variant pathogenicity with high accuracy - Supplementary material Open
Figure S1: Distribution of the reviewed 141 BRCA1 missense variants; Figure S2: The Shapely values for the BRCA1 XGBoost models; Figure S3: The Shapely values of the BRCA1 XGBoost model used to predict the functi…
View article: BRCA1-specific machine learning model predicts variant pathogenicity with high accuracy - Supplementary material
BRCA1-specific machine learning model predicts variant pathogenicity with high accuracy - Supplementary material Open
Figure S1: Distribution of the reviewed 141 BRCA1 missense variants; Figure S2: The Shapely values for the BRCA1 XGBoost models; Figure S3: The Shapely values of the BRCA1 XGBoost model used to predict the functi…
View article: BRCA1-specific machine learning model predicts variant pathogenicity with high accuracy - Supplementary material
BRCA1-specific machine learning model predicts variant pathogenicity with high accuracy - Supplementary material Open
Figure S1: Distribution of the reviewed 141 BRCA1 missense variants; Figure S2: The Shapely values for the BRCA1 XGBoost models; Figure S3: The Shapely values of the BRCA1 XGBoost model used to predict the functi…
View article: Expanding on the phenotypic spectrum of<scp>Woodhouse‐Sakati</scp>syndrome due to founder pathogenic variant in<scp><i>DCAF17</i></scp>: Report of 58 additional patients from Qatar and literature review
Expanding on the phenotypic spectrum of<span>Woodhouse‐Sakati</span>syndrome due to founder pathogenic variant in<span><i>DCAF17</i></span>: Report of 58 additional patients from Qatar and literature review Open
Woodhouse‐Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants in the DCAF17 gene. In Qatar, the c.436delC variant has been reported as a possible founder pathogenic variant with str…
View article: Gene therapy for spinal muscular atrophy: the Qatari experience
Gene therapy for spinal muscular atrophy: the Qatari experience Open
View article: A founder <scp>RAB27A</scp> variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families
A founder <span>RAB27A</span> variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families Open
Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic variants in the RAB27A gene and characterized by partial albinism, immunodeficiency, and occasional hematological and neurological involvement. We …