Afaf Alsagheir

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Dorota Monies, Mohammed Abouelhoda, Mirna Assoum et al. · The American Journal of Human Genetics · 2019 · 283 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

Anas M. Alazami, Sarah M. Al-Qattan, Eissa Faqeih et al. · Human Genetics · 2016 · 113 citations

Medicine, Genetics, Molecular Genetics +16

The morbid genome of ciliopathies: an update

Hanan E. Shamseldin, Ranad Shaheen, Nour Ewida et al. · Genetics in Medicine · 2020 · 106 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida et al. · Genome biology · 2020 · 97 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis

Minjing Zou, Ali S. Alzahrani, Ali Al‐Odaib et al. · The Journal of Clinical Endocrinology & Metabolism · 2018 · 79 citations · Full text

Life Sciences, Endocrinology, Genetics +17