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Page 1
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: ewida n. 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.
Characterizing the morbid genome of ciliopathies.
Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA; Ciliopathy WorkingGroup; Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS. Shaheen R, et al. Among authors: ewida n. Genome Biol. 2016 Nov 28;17(1):242. doi: 10.1186/s13059-016-1099-5. Genome Biol. 2016. PMID: 27894351 Free PMC article.
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE, AlAbdi L, Maddirevula S, Alsaif HS, Alzahrani F, Ewida N, Hashem M, Abdulwahab F, Abuyousef O, Kuwahara H, Gao X; Molecular Autopsy Consortium; Alkuraya FS. Shamseldin HE, et al. Among authors: ewida n. Genome Med. 2021 Oct 13;13(1):161. doi: 10.1186/s13073-021-00973-0. Genome Med. 2021. PMID: 34645488 Free PMC article.
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Shaheen R, Patel N, Shamseldin H, Alzahrani F, Al-Yamany R, ALMoisheer A, Ewida N, Anazi S, Alnemer M, Elsheikh M, Alfaleh K, Alshammari M, Alhashem A, Alangari AA, Salih MA, Kircher M, Daza RM, Ibrahim N, Wakil SM, Alaqeel A, Altowaijri I, Shendure J, Al-Habib A, Faqieh E, Alkuraya FS. Shaheen R, et al. Among authors: ewida n. Genet Med. 2016 Jul;18(7):686-95. doi: 10.1038/gim.2015.147. Epub 2015 Dec 3. Genet Med. 2016. PMID: 26633546 Free article.
Molecular autopsy in maternal-fetal medicine.
Shamseldin HE, Kurdi W, Almusafri F, Alnemer M, Alkaff A, Babay Z, Alhashem A, Tulbah M, Alsahan N, Khan R, Sallout B, Al Mardawi E, Seidahmed MZ, Meriki N, Alsaber Y, Qari A, Khalifa O, Eyaid W, Rahbeeni Z, Kurdi A, Hashem M, Alshidi T, Al-Obeid E, Abdulwahab F, Ibrahim N, Ewida N, El-Akouri K, Al Mulla M, Ben-Omran T, Pergande M, Cirak S, Al Tala S, Shaheen R, Faqeih E, Alkuraya FS. Shamseldin HE, et al. Among authors: ewida n. Genet Med. 2018 Apr;20(4):420-427. doi: 10.1038/gim.2017.111. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28749478 Free article.
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: ewida n. 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.
Genomic and phenotypic delineation of congenital microcephaly.
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, Şahintürk 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. Shaheen R, et al. Among authors: ewida n. Genet Med. 2019 Mar;21(3):545-552. doi: 10.1038/s41436-018-0140-3. Epub 2018 Sep 14. Genet Med. 2019. PMID: 30214071 Free PMC article.
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Alshenaifi J, Ewida N, Anazi S, Shamseldin HE, Patel N, Maddirevula S, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Jacob M, Alhashem A, Alzaidan HI, Seidahmed MZ, Alhashemi N, Rawashdeh R, Eyaid W, Al-Hassnan ZN, Rahbeeni Z, Alswaid A, Hadid A, Qari A, Mohammed DA, El Khashab HY, Alfadhel M, Abanemai M, Sunbul R, Al Tala S, Alkhalifi S, Alkharfi T, Abouelhoda M, Monies D, Al Tassan N, AlDubayan SH, Kurdi W, Al-Owain M, Dasouki MJ, Kentab AY, Atyani S, Makhseed N, Faqeih E, Shaheen R, Alkuraya FS. Alshenaifi J, et al. Among authors: ewida n. Clin Genet. 2019 Feb;95(2):310-319. doi: 10.1111/cge.13481. Epub 2018 Dec 18. Clin Genet. 2019. PMID: 30561787
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.
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. Shaheen R, et al. Among authors: ewida n. Hepatology. 2020 Jun;71(6):2067-2079. doi: 10.1002/hep.30982. Epub 2020 Feb 20. Hepatology. 2020. PMID: 31595528
PLXNA2 as a candidate gene in patients with intellectual disability.
Altuame FD, Shamseldin HE, Albatti TH, Hashem M, Ewida N, Abdulwahab F, Alkuraya FS. Altuame FD, et al. Among authors: ewida n. Am J Med Genet A. 2021 Dec;185(12):3859-3865. doi: 10.1002/ajmg.a.62440. Epub 2021 Jul 29. Am J Med Genet A. 2021. PMID: 34327814
25 results