Concepedia
Statistics
Publications
16
Citations
763
H-Index
12
Active since
2013
Affiliations
King Fahd Medical City(Current)
Alfaisal University
King Saud University
King Saud bin Abdulaziz University for Health Sciences
King Faisal Specialist Hospital & Research Centre
Badr Alsaleem is an author at King Fahd Medical City specializing in life sciences, genetics, and pediatrics.
Publications per year
2013–2023
Biallelic <i>RIPK1</i> mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation
Delphine Cuchet-Lourenço, Davide Eletto, Changxin Wu et al. · Science · 2018 · 240 citations · Full text
Life Sciences, Genetics, Immunology +15
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
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Peer Arts, Annet Simons, Mofareh AlZahrani et al. · Genome Medicine · 2019 · 87 citations · Full text
Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure
Abdulrahman Al‐Hussaini, Eissa Faqeih, Ayman W. El‐Hattab et al. · The Journal of Pediatrics · 2013 · 69 citations
Medicine, Molecular Biology, Pediatrics +17
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
Lama AlAbdi, Sateesh Maddirevula, Hanan E. Shamseldin et al. · Nature Communications · 2023 · 41 citations · Full text
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