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Year Number of Results
2013 1
2014 1
2015 1
2017 5
2018 1
2019 4
2020 3
2021 5
2022 5
2023 4
2024 3

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30 results

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Page 1
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L, Maddirevula S, Shamseldin HE, Khouj E, Helaby R, Hamid H, Almulhim A, Hashem MO, Abdulwahab F, Abouyousef O, Alqahtani M, Altuwaijri N, Jaafar A, Alshidi T, Alzahrani F; Mendeliome Group; Alkuraya FS. AlAbdi L, et al. Nat Commun. 2023 Aug 29;14(1):5269. doi: 10.1038/s41467-023-40909-3. Nat Commun. 2023. PMID: 37644014 Free PMC article.
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S, Kuwahara H, Ewida N, Shamseldin HE, Patel N, Alzahrani F, AlSheddi T, AlObeid E, Alenazi M, Alsaif HS, Alqahtani M, AlAli M, Al Ali H, Helaby R, Ibrahim N, Abdulwahab F, Hashem M, Hanna N, Monies D, Derar N, Alsagheir A, Alhashem A, Alsaleem B, Alhebbi H, Wali S, Umarov R, Gao X, Alkuraya FS. Maddirevula S, et al. Among authors: alsaleem b. Genome Biol. 2020 Jun 17;21(1):145. doi: 10.1186/s13059-020-02053-9. Genome Biol. 2020. PMID: 32552793 Free PMC article. Clinical Trial.
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
Almannai M, AlAbdi L, Maddirevula S, Alotaibi M, Alsaleem BM, Aljadhai YI, Alsaif HS, Abukhalid M, Alkuraya FS. Almannai M, et al. Among authors: alsaleem bm. Hum Genet. 2023 Mar;142(3):399-405. doi: 10.1007/s00439-022-02513-1. Epub 2022 Dec 23. Hum Genet. 2023. PMID: 36564622
Enteroendocrine Dysfunction in Two Saudi Sisters.
Ahmed ABM, Alsaleem BMR. Ahmed ABM, et al. Among authors: alsaleem bmr. Case Rep Gastroenterol. 2021 Mar 4;15(1):290-295. doi: 10.1159/000511761. eCollection 2021 Jan-Apr. Case Rep Gastroenterol. 2021. PMID: 33790717 Free PMC article.
Unusual Manifestation of Ulcerative Colitis.
Ahmed ABM, Alsaleem BMR. Ahmed ABM, et al. Among authors: alsaleem bmr. Case Rep Pediatr. 2019 Jan 31;2019:5163213. doi: 10.1155/2019/5163213. eCollection 2019. Case Rep Pediatr. 2019. PMID: 30838150 Free PMC article.
Fungal Dysbiosis in Children with Celiac Disease.
El Mouzan M, Al-Hussaini A, Fanelli B, Assiri A, AlSaleem B, Al Mofarreh M, Al Sarkhy A, Alasmi M. El Mouzan M, et al. Among authors: alsaleem b. Dig Dis Sci. 2022 Jan;67(1):216-223. doi: 10.1007/s10620-021-06823-8. Epub 2021 Mar 16. Dig Dis Sci. 2022. PMID: 33723701
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Moreno Traspas R, Teoh TS, Wong PM, Maier M, Chia CY, Lay K, Ali NA, Larson A, Al Mutairi F, Al-Sannaa NA, Faqeih EA, Alfadhel M, Cheema HA, Dupont J, Bézieau S, Isidor B, Low DY, Wang Y, Tan G, Lai PS, Piloquet H, Joubert M, Kayserili H, Kripps KA, Nahas SA, Wartchow EP, Warren M, Bhavani GS, Dasouki M, Sandoval R, Carvalho E, Ramos L, Porta G, Wu B, Lashkari HP, AlSaleem B, BaAbbad RM, Abreu Ferrão AN, Karageorgou V, Ordonez-Herrera N, Khan S, Bauer P, Cogne B, Bertoli-Avella AM, Vincent M, Girisha KM, Reversade B. Moreno Traspas R, et al. Among authors: alsaleem b. Nat Genet. 2022 Aug;54(8):1214-1226. doi: 10.1038/s41588-022-01120-0. Epub 2022 Jul 21. Nat Genet. 2022. PMID: 35864190 Free PMC article.
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D, Goljan E; Rapid Exome Consortium; Assoum M, Albreacan M, Binhumaid F, Subhani S, Boureggah A, Hashem M, Abdulwahab F, Abuyousef O, Temsah MH, Alsohime F, Kelaher J, Abouelhoda M, Meyer BF, Alkuraya FS. Monies D, et al. Genome Med. 2023 Jun 21;15(1):44. doi: 10.1186/s13073-023-01192-5. Genome Med. 2023. PMID: 37344829 Free PMC article.
Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.
Alsaleem BM, Hasosah M, Ahmed ABM, Al Hatlani MM, Alanazi AH, Al-Hussaini A, Asery AT, Alghamdi KA, AlRuwaithi MM, Khormi MAM, Al Sarkhy A, Alshamrani AS. Alsaleem BM, et al. Saudi J Gastroenterol. 2022 Mar-Apr;28(2):135-142. doi: 10.4103/sjg.sjg_200_21. Saudi J Gastroenterol. 2022. PMID: 34414925 Free PMC article.
Viral dysbiosis in children with new-onset celiac disease.
El Mouzan M, Assiri A, Al Sarkhy A, Alasmi M, Saeed A, Al-Hussaini A, AlSaleem B, Al Mofarreh M. El Mouzan M, et al. Among authors: alsaleem b. PLoS One. 2022 Jan 14;17(1):e0262108. doi: 10.1371/journal.pone.0262108. eCollection 2022. PLoS One. 2022. PMID: 35030192 Free PMC article.
30 results