Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

115 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.
Karim S, Saharti S, Alganmi N, Mirza Z, Alfares A, Turkistany S, Al-Attas M, Noureldin H, Al Sakkaf K, Abusamra H, Al-Qahtani M, Abuzenadah A. Karim S, et al. Among authors: alfares a. Life (Basel). 2021 Dec 23;12(1):14. doi: 10.3390/life12010014. Life (Basel). 2021. PMID: 35054407 Free PMC article.
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.
Alfadhel M, Umair M, Almuzzaini B, Alsaif S, AlMohaimeed SA, Almashary MA, Alharbi W, Alayyar L, Alasiri A, Ballow M, AlAbdulrahman A, Alaujan M, Nashabat M, Al-Odaib A, Altwaijri W, Al-Rumayyan A, Alrifai MT, Alfares A, AlBalwi M, Tabarki B. Alfadhel M, et al. Among authors: alfares a. Ann Clin Transl Neurol. 2019 Oct;6(10):2097-2103. doi: 10.1002/acn3.50898. Epub 2019 Sep 26. Ann Clin Transl Neurol. 2019. PMID: 31557427 Free PMC article.
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A, Alsubaie L, Aloraini T, Alaskar A, Althagafi A, Alahmad A, Rashid M, Alswaid A, Alothaim A, Eyaid W, Ababneh F, Albalwi M, Alotaibi R, Almutairi M, Altharawi N, Alsamer A, Abdelhakim M, Kafkas S, Mineta K, Cheung N, Abdallah AM, Büchmann-Møller S, Fukasawa Y, Zhao X, Rajan I, Hoehndorf R, Al Mutairi F, Gojobori T, Alfadhel M. Alfares A, et al. BMC Med Genomics. 2020 Jul 17;13(1):103. doi: 10.1186/s12920-020-00743-8. BMC Med Genomics. 2020. PMID: 32680510 Free PMC article.
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
Umair M, Ballow M, Asiri A, Alyafee Y, Al Tuwaijri A, Alhamoudi KM, Aloraini T, Abdelhakim M, Althagafi AT, Kafkas S, Alsubaie L, Alrifai MT, Hoehndorf R, Alfares A, Alfadhel M. Umair M, et al. Among authors: alfares a. Clin Genet. 2020 Dec;98(6):555-561. doi: 10.1111/cge.13842. Epub 2020 Sep 15. Clin Genet. 2020. PMID: 32869858 Free PMC article.
The rate of secondary genomic findings in the Saudi population.
Aloraini T, Alsubaie L, Alasker S, Al Muitiri A, Alswaid A, Eyiad W, Al Mutairi F, Ababneh F, Alfadhel M, Alfares A. Aloraini T, et al. Among authors: alfares a. Am J Med Genet A. 2022 Jan;188(1):83-88. doi: 10.1002/ajmg.a.62491. Epub 2021 Sep 13. Am J Med Genet A. 2022. PMID: 34515413
Common disease-associated gene variants in a Saudi Arabian population.
Aleissa M, Aloraini T, Alsubaie LF, Hassoun M, Abdulrahman G, Swaid A, Eyaid WA, Mutairi FA, Ababneh F, Alfadhel M, Alfares A. Aleissa M, et al. Among authors: alfares a. Ann Saudi Med. 2022 Jan-Feb;42(1):29-35. doi: 10.5144/0256-4947.2022.29. Epub 2022 Feb 3. Ann Saudi Med. 2022. PMID: 35112591 Free PMC article.
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS, Alotibi RS, Aloraini T, Almsned F, Alassali Y, Alfares A, Alhaddad B, Al Eissa MM. Alqahtani AS, et al. Among authors: alfares a. Front Genet. 2023 Sep 20;14:1243518. doi: 10.3389/fgene.2023.1243518. eCollection 2023. Front Genet. 2023. PMID: 37799141 Free PMC article.
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
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. Alfares A, et al. Mol Genet Metab. 2017 Jun;121(2):91-95. doi: 10.1016/j.ymgme.2017.04.002. Epub 2017 Apr 7. Mol Genet Metab. 2017. PMID: 28454995 No abstract available.
115 results