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Saud Alsahli

Title(s)RESID PHYS/SUBSPEC 4-8/REP, Neurosciences
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Exploring the effect of nicotine pouches on users' health in Saudi Arabia: A cross-sectional study. Tob Induc Dis. 2025; 23. Elsokkary EM, Alsabhan FA, Alyahya AA, Alsahli SA, Almousa AM, Aldali JA, Alasiri G. PMID: 40352804; PMCID: PMC12063099.
      View in: PubMed   Mentions: 1  
    2. Assessing satisfaction, quality of life, and HbA1c changes in type 1 diabetes patients who are using freestyle libre glucose monitoring. J Family Med Prim Care. 2024 Jun; 13(6):2367-2374. Alsahli MA, Alalwan A, Aburisheh KH, Alarifi FF, Alshaya HM, Alkholaif AF, Shadid AM, Alsahli SA, Alsahly AA, Alkhalifah MK. PMID: 39027821; PMCID: PMC11254085.
      View in: PubMed   Mentions: 1  
    3. Advanced Photoelectrochemical Hydrogen Generation by CdO-g-C3N4 in Aqueous Medium under Visible Light. Molecules. 2022 Dec 07; 27(24). Iqbal N, Khan MS, Zubair M, Khan SA, Ali A, Aldhafeeri N, Alsahli S, Alanzi M, Enazi A, Alroyle T, Alrashidi A. PMID: 36557780; PMCID: PMC9787746.
      View in: PubMed   Mentions: 1     Fields:    
    4. Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans. Hepatology. 2020 06; 71(6):2067-2079. Shaheen R, Alsahli S, Ewida N, Alzahrani F, Shamseldin HE, Patel N, Al Qahtani A, Alhebbi H, Alhashem A, Al-Sheddi T, Alomar R, Alobeid E, Abouelhoda M, Monies D, Al-Hussaini A, Alzouman MA, Shagrani M, Faqeih E, Alkuraya FS. PMID: 31595528.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansAnimalsCells
    5. Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures. Neurogenetics. 2019 05; 20(2):109-115. Alsahli S, Alfares A, Guzmán-Vega FJ, Arold ST, Ba-Armah D, Al Mutairi F. PMID: 30972502.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    6. Severe Crohn's Disease Manifestations in a Child with Cystathionine β-Synthase Deficiency. ACG Case Rep J. 2018; 5:e93. Alsahli S, Al Anazi A, Al Hatlani MM, Kashgari A, Al Sufiani F, Alfadhel M, Al Mutairi F. PMID: 30775396; PMCID: PMC6358571.
      View in: PubMed   Mentions: 3  
    7. Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy. Epilepsia Open. 2018 Dec; 3(4):524-527. Alsahli S, Al-Twaijri W, Al Mutairi F. PMID: 30525121; PMCID: PMC6276780.
      View in: PubMed   Mentions: 3     Fields:    
    8. Aortic calcification in Gaucher disease: a case report. Appl Clin Genet. 2018; 11:107-110. Alsahli S, Bubshait DK, Rahbeeni ZA, Alfadhel M. PMID: 30410382; PMCID: PMC6199969.
      View in: PubMed   Mentions: 3  
    9. Genomic and phenotypic delineation of congenital microcephaly. Genet Med. 2019 03; 21(3):545-552. Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Hamad M, Tabarki B, Alwadei AH, Alhazzani F, Bashiri FA, Kentab A, Sahintürk S, Sherr E, Fregeau B, Sogati S, Alshahwan SAM, Alkhalifi S, Alhumaidi Z, Temtamy S, Aglan M, Otaify G, Girisha KM, Tulbah M, Seidahmed MZ, Salih MA, Abouelhoda M, Momin AA, Saffar MA, Partlow JN, Arold ST, Faqeih E, Walsh C, Alkuraya FS. PMID: 30214071; PMCID: PMC6986385.
      View in: PubMed   Mentions: 63     Fields:    Translation:Humans
    10. Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. Brain. 2018 07 01; 141(7):1934-1945. Nahorski MS, Maddirevula S, Ishimura R, Alsahli S, Brady AF, Begemann A, Mizushima T, Guzmán-Vega FJ, Obata M, Ichimura Y, Alsaif HS, Anazi S, Ibrahim N, Abdulwahab F, Hashem M, Monies D, Abouelhoda M, Meyer BF, Alfadhel M, Eyaid W, Zweier M, Steindl K, Rauch A, Arold ST, Woods CG, Komatsu M, Alkuraya FS. PMID: 29868776; PMCID: PMC6022668.
      View in: PubMed   Mentions: 60     Fields:    Translation:HumansCells
    11. KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome. Am J Med Genet A. 2018 07; 176(7):1602-1609. Alsahli S, Arold ST, Alfares A, Alhaddad B, Al Balwi M, Kamsteeg EJ, Al-Twaijri W, Alfadhel M. PMID: 29736960.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    12. Expanding the phenome and variome of skeletal dysplasia. Genet Med. 2018 12; 20(12):1609-1616. Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS. PMID: 29620724.
      View in: PubMed   Mentions: 33     Fields:    Translation:Humans
    13. Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4. J Cent Nerv Syst Dis. 2018; 10:1179573518759682. Alsahli S, Alrifai MT, Al Tala S, Mutairi FA, Alfadhel M. PMID: 29531481; PMCID: PMC5843099.
      View in: PubMed   Mentions: 12  
    14. Correction to: Expanding the genetic heterogeneity of intellectual disability. Hum Genet. 2018 01; 137(1):105-109. Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS. PMID: 29288388.
      View in: PubMed   Mentions: 1     Fields:    
    15. Expanding the genetic heterogeneity of intellectual disability. Hum Genet. 2017 11; 136(11-12):1419-1429. Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS. PMID: 28940097.
      View in: PubMed   Mentions: 83     Fields:    Translation:HumansCells
    16. Congenital disorders of glycosylation: The Saudi experience. Am J Med Genet A. 2017 Oct; 173(10):2614-2621. Alsubhi S, Alhashem A, Faqeih E, Alfadhel M, Alfaifi A, Altuwaijri W, Alsahli S, Aldhalaan H, Alkuraya FS, Hundallah K, Mahmoud A, Alasmari A, Mutairi FA, Abduraouf H, AlRasheed L, Alshahwan S, Tabarki B. PMID: 28742265.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    17. Seasonal variations of respiratory viruses detected from children with respiratory tract infections in Riyadh, Saudi Arabia. J Infect Public Health. 2018 Mar - Apr; 11(2):183-186. Albogami SS, Alotaibi MR, Alsahli SA, Masuadi E, Alshaalan M. PMID: 28668655.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    18. A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. Mol Genet Metab. 2017 06; 121(2):91-95. Alfares A, Alfadhel M, Wani T, Alsahli S, Alluhaydan I, Al Mutairi F, Alothaim A, Albalwi M, Al Subaie L, Alturki S, Al-Twaijri W, Alrifai M, Al-Rumayya A, Alameer S, Faqeeh E, Alasmari A, Alsamman A, Tashkandia S, Alghamdi A, Alhashem A, Tabarki B, AlShahwan S, Hundallah K, Wali S, Al-Hebbi H, Babiker A, Mohamed S, Eyaid W, Zada AAP. PMID: 28454995.
      View in: PubMed   Mentions: 46     Fields:    Translation:Humans
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