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Year Number of Results
2008 2
2009 1
2011 2
2015 1
2016 4
2017 6
2018 7
2019 7
2020 18
2021 21
2022 6
2023 1
2024 0

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66 results

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Page 1
Expanding the phenome and variome of skeletal dysplasia.
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. Maddirevula S, et al. Among authors: alsaif hs. Genet Med. 2018 Dec;20(12):1609-1616. doi: 10.1038/gim.2018.50. Epub 2018 Apr 5. Genet Med. 2018. PMID: 29620724 Free article.
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR, AlHashem A, Rahbeeni Z, Al-Otaibi M, Alzaidan HI, Balobaid A, El Khashab HY, Bubshait DK, Faden M, Yamani SA, Dabbagh O, Al-Mureikhi M, Jasser AA, Alsaif HS, Alluhaydan I, Seidahmed MZ, Alabbasi BH, Almogarri I, Kurdi W, Akleh H, Qari A, Al Tala SM, Alhomaidi S, Kentab AY, Salih MA, Chedrawi A, Alameer S, Tabarki B, Shamseldin HE, Patel N, Ibrahim N, Abdulwahab F, Samira M, Goljan E, Abouelhoda M, Meyer BF, Hashem M, Shaheen R, AlShahwan S, Alfadhel M, Ben-Omran T, Al-Qattan MM, Monies D, Alkuraya FS. Maddirevula S, et al. Among authors: alsaif hs. Genet Med. 2019 Mar;21(3):736-742. doi: 10.1038/s41436-018-0138-x. Epub 2018 Sep 21. Genet Med. 2019. PMID: 30237576 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: alsaif hs. 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.
Melioidosis: Spectrum of Radiological Manifestations.
Alsaif HS, Venkatesh SK. Alsaif HS, et al. Saudi J Med Med Sci. 2016 May-Aug;4(2):74-78. doi: 10.4103/1658-631X.178286. Epub 2016 Mar 9. Saudi J Med Med Sci. 2016. PMID: 30787702 Free PMC article. Review.
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: alsaif hs. Hum Genet. 2023 Mar;142(3):399-405. doi: 10.1007/s00439-022-02513-1. Epub 2022 Dec 23. Hum Genet. 2023. PMID: 36564622
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam MP, Bjornsson HT, Harris J, Dyment DA, Graham GE, Nezarati MM, Aul RB, Castiglioni C, Breckpot J, Devriendt K, Stewart H, Banos-Pinero B, Mehta S, Sandford R, Dunn C, Mathevet R, van Maldergem L, Piard J, Brischoux-Boucher E, Vitobello A, Faivre L, Bournez M, Tran-Mau F, Maystadt I, Fernández-Jaén A, Alvarez S, García-Prieto ID, Alkuraya FS, Alsaif HS, Rahbeeni Z, El-Akouri K, Al-Mureikhi M, Spillmann RC, Shashi V, Sanchez-Lara PA, Graham JM Jr, Roberts A, Chorin O, Evrony GD, Kraatari-Tiri M, Dudding-Byth T, Richardson A, Hunt D, Hamilton L, Dyack S, Mendelsohn BA, Rodríguez N, Sánchez-Martínez R, Tenorio-Castaño J, Nevado J, Lapunzina P, Tirado P, Carminho Amaro Rodrigues MT, Quteineh L, Innes AM, Kline AD, Au PYB, Weksberg R. Choufani S, et al. Among authors: alsaif hs. Am J Hum Genet. 2022 Oct 6;109(10):1867-1884. doi: 10.1016/j.ajhg.2022.08.014. Epub 2022 Sep 20. Am J Hum Genet. 2022. PMID: 36130591 Free PMC article.
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS. Anazi S, et al. Among authors: alsaif hs. Mol Psychiatry. 2017 Apr;22(4):615-624. doi: 10.1038/mp.2016.113. Epub 2016 Jul 19. Mol Psychiatry. 2017. PMID: 27431290
Further delineation of HIDEA syndrome.
Maddirevula S, Ben-Omran T, AlMureikhi M, Eyaid W, Arabi H, Alkuraya H, Alfaifi A, Alfalah AH, Alsaif HS, Abdulwahab F, Alfadhel M, Alkuraya FS. Maddirevula S, et al. Among authors: alsaif hs. Am J Med Genet A. 2020 Dec;182(12):2999-3006. doi: 10.1002/ajmg.a.61885. Epub 2020 Sep 23. Am J Med Genet A. 2020. PMID: 32965080
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Averdunk L, Sticht H, Surowy H, Lüdecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D. Averdunk L, et al. Among authors: alsaif hs. J Mol Med (Berl). 2021 Dec;99(12):1755-1768. doi: 10.1007/s00109-021-02124-9. Epub 2021 Sep 18. J Mol Med (Berl). 2021. PMID: 34536092 Free PMC article. Review.
Sclerosing Encapsulating Carcinomatous Peritonitis: A Case Report.
Alshomimi S, Hassan A, Faisal Z, Mohammed A, Al Dandan O, Alsaif HS. Alshomimi S, et al. Among authors: alsaif hs. Saudi J Med Med Sci. 2021 Jan-Apr;9(1):63-66. doi: 10.4103/sjmms.sjmms_275_19. Epub 2020 Oct 13. Saudi J Med Med Sci. 2021. PMID: 33519346 Free PMC article.
66 results