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Arab founder variants: Contributions to clinical genomics and precision medicine
Lama AlAbdi, Sateesh Maddirevula, Bayan Mohammed Aljamal, Halima Hamid, Aisha Almulhim, Mais O. Hashem, Yusra Algoos, Mashael F. Alqahtani 等 48 位
King Faisal Specialist Hospital & Research Centre King Saud University Riyadh Armed Forces Hospital Alfaisal University
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学术脉络
学科主题
生物医学Genomics and Rare Diseases
Genetic Associations and Epidemiology · Genomics and Phylogenetic Studies
参考文献 109
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families
被引 125Hanan E. Shamseldin, Maha Tulbah, Wesam Kurdi · Genome biology · 2015
Revisiting disease genes based on whole-exome sequencing in consanguineous populations
被引 15Ahmed Shamia, Ranad Shaheen, Nouran Sabbagh · Human Genetics · 2015
RNAi–Based Functional Profiling of Loci from Blood Lipid Genome-Wide Association Studies Identifies Genes with Cholesterol-Regulatory Function
被引 58Peter Blattmann, Christian E Schuberth, Rainer Pepperkok · PLoS Genetics · 2013
此处列出前 3 条
引用本文 16
GREGoR: accelerating genomics for rare diseases
被引 18Moez Dawood, Ben Heavner, Marsha M. Wheeler · Nature · 2025
Genomics of rare diseases in the Greater Middle East
被引 16Ikram Chekroun, Shruti Shenbagam, Mohamed A. Almarri · Nature Genetics · 2025
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation
被引 7Zain Dardas, Laura Harrold, Daniel G. Calame · The American Journal of Human Genetics · 2025
按被引量排序，此处列出前 3 条