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Year Number of Results
1974 1
1978 1
1979 2
1980 2
1984 2
1990 2
1993 2
1994 1
1995 3
1996 1
1997 1
1998 1
1999 7
2000 3
2001 6
2002 4
2003 6
2004 6
2005 4
2006 3
2007 11
2008 5
2009 3
2010 3
2011 6
2012 10
2013 3
2014 13
2015 13
2016 8
2017 11
2018 10
2019 19
2020 21
2021 35
2022 33
2023 25
2024 22
2025 0

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291 results

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Page 1
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, Alotaibi M, Goljan E, Elbardisy H, ElKalioby M, Shah Z, Alruwaili H, Jaafar A, Albar R, Akilan A, Tayeb H, Tahir A, Fawzy M, Nasr M, Makki S, Alfaifi A, Akleh H, Yamani S, Bubshait D, Mahnashi M, Basha T, Alsagheir A, Abu Khaled M, Alsaleem K, Almugbel M, Badawi M, Bashiri F, Bohlega S, Sulaiman R, Tous E, Ahmed S, Algoufi T, Al-Mousa H, Alaki E, Alhumaidi S, Alghamdi H, Alghamdi M, Sahly A, Nahrir S, Al-Ahmari A, Alkuraya H, Almehaidib A, Abanemai M, Alsohaibaini F, Alsaud B, Arnaout R, Abdel-Salam GMH, Aldhekri H, AlKhater S, Alqadi K, Alsabban E, Alshareef T, Awartani K, Banjar H, Alsahan N, Abosoudah I, Alashwal A, Aldekhail W, Alhajjar S, Al-Mayouf S, Alsemari A, Alshuaibi W, Altala S, Altalhi A, Baz S, Hamad M, Abalkhail T, Alenazi B, Alkaff A, Almohareb F, Al Mutairi F, Alsaleh M, Alsonbul A, Alzelaye S, Bahzad S, Manee AB, Jarrad O, Meriki N, Albeirouti B, Alqasmi A, AlBalwi M, Makhseed N, Hassan S, Salih I, Salih MA, Shaheen M, Sermin S, Shahrukh S, Hashmi S, Sha… See abstract for full author list ➔ Monies D, et al. Among authors: wali s. Am J Hum Genet. 2019 Jun 6;104(6):1182-1201. doi: 10.1016/j.ajhg.2019.04.011. Epub 2019 May 23. Am J Hum Genet. 2019. PMID: 31130284 Free PMC article.
Neonatal imprinting of alveolar macrophages via neutrophil-derived 12-HETE.
Pernet E, Sun S, Sarden N, Gona S, Nguyen A, Khan N, Mawhinney M, Tran KA, Chronopoulos J, Amberkar D, Sadeghi M, Grant A, Wali S, Prevel R, Ding J, Martin JG, Thanabalasuriar A, Yipp BG, Barreiro LB, Divangahi M. Pernet E, et al. Among authors: wali s. Nature. 2023 Feb;614(7948):530-538. doi: 10.1038/s41586-022-05660-7. Epub 2023 Jan 4. Nature. 2023. PMID: 36599368 Free PMC article.
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.
Long-term safety and efficacy of tezepelumab in people with severe, uncontrolled asthma (DESTINATION): a randomised, placebo-controlled extension study.
Menzies-Gow A, Wechsler ME, Brightling CE, Korn S, Corren J, Israel E, Chupp G, Bednarczyk A, Ponnarambil S, Caveney S, Almqvist G, Gołąbek M, Simonsson L, Lawson K, Bowen K, Colice G; DESTINATION study investigators. Menzies-Gow A, et al. Lancet Respir Med. 2023 May;11(5):425-438. doi: 10.1016/S2213-2600(22)00492-1. Epub 2023 Jan 23. Lancet Respir Med. 2023. PMID: 36702146 Clinical Trial.
Sleepiness in Adolescents.
Merdad RA, Akil H, Wali SO. Merdad RA, et al. Among authors: wali so. Sleep Med Clin. 2017 Sep;12(3):415-428. doi: 10.1016/j.jsmc.2017.03.014. Epub 2017 Jun 9. Sleep Med Clin. 2017. PMID: 28778239 Review.
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: wali s. 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.
291 results