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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… See abstract for full author list ➔ Monies D, et al. Among authors: arnaout r. 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.
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S… See abstract for full author list ➔ Monies D, et al. Among authors: arnaout r. Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9. Hum Genet. 2017. PMID: 28600779 Free PMC article.
Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency.
Ogishi M, Arias AA, Yang R, Han JE, Zhang P, Rinchai D, Halpern J, Mulwa J, Keating N, Chrabieh M, Lainé C, Seeleuthner Y, Ramírez-Alejo N, Nekooie-Marnany N, Guennoun A, Muller-Fleckenstein I, Fleckenstein B, Kilic SS, Minegishi Y, Ehl S, Kaiser-Labusch P, Kendir-Demirkol Y, Rozenberg F, Errami A, Zhang SY, Zhang Q, Bohlen J, Philippot Q, Puel A, Jouanguy E, Pourmoghaddas Z, Bakhtiar S, Willasch AM, Horneff G, Llanora G, Shek LP, Chai LYA, Tay SH, Rahimi HH, Mahdaviani SA, Nepesov S, Bousfiha AA, Erdeniz EH, Karbuz A, Marr N, Navarrete C, Adeli M, Hammarstrom L, Abolhassani H, Parvaneh N, Al Muhsen S, Alosaimi MF, Alsohime F, Nourizadeh M, Moin M, Arnaout R, Alshareef S, El-Baghdadi J, Genel F, Sherkat R, Kiykim A, Yücel E, Keles S, Bustamante J, Abel L, Casanova JL, Boisson-Dupuis S. Ogishi M, et al. Among authors: arnaout r. J Exp Med. 2022 Oct 3;219(10):e20220094. doi: 10.1084/jem.20220094. Epub 2022 Sep 12. J Exp Med. 2022. PMID: 36094518 Free PMC article.
Urticaria exacerbations and adverse reactions in patients with chronic urticaria receiving COVID-19 vaccination: Results of the UCARE COVAC-CU study.
Kocatürk E, Salameh P, Sarac E, Vera Ayala CE, Thomsen SF, Zuberbier T, Ensina LF, Popov TA, van Doorn MBA, Giménez-Arnau AM, Asero R, Criado PR, Aarestrup FM, AbdulHameed Ansari Z, Al Abri S, Al-Ahmad M, Al Hinai B, Allenova A, Al-Nesf M, Altrichter S, Arnaout R, Bartosińska J, Bauer A, Bernstein JA, Bizjak M, Bonnekoh H, Bouillet L, Brzoza Z, Calvalcanti Dela Bianca Melo AC, Campinhos FL, Carne E, Purayil SC, Cherrez-Ojeda I, Chong-Neto HJ, Christoff G, Conlon N, Jardim Criado RF, Cvenkel K, Damadoglu E, Danilycheva I, Day C, de Montjoye L, Demir S, Ferucci SM, Fomina D, Fukunaga A, Garcia E, Gelincik A, Göbel JH, Godse K, Gonçalo M, Gotua M, Grattan C, Gugala A, Guillet C, Kalyoncu AF, Karakaya G, Kasperska-Zając A, Katelaris CH, Khoshkhui M, Kleinheinz A, Kolacinska-Flont M, Kolkhir P, Košnik M, Krasowska D, Kumaran MS, Kuprys-Lipinska I, Kurowski M, Kuznetsova EV, Larenas-Linnemann D, Lebedkina MS, Lee Y, Makris M, Gómez RM, Nasr I, Neisinger S, Oda Y, Kara RÖ, Palitot EB, Papapostolou N, Salvador Parisi CA, Pesque D, Peter J, Petkova E, Ridge K, Rudenko M, Rutkowski K, Saini SS, Salman A, Sanchez J, Şekerel B, Serdotetskova SA, Serpa FS, Dikicier BS, Sidiropoulos N, S… See abstract for full author list ➔ Kocatürk E, et al. Among authors: arnaout r. J Allergy Clin Immunol. 2023 Nov;152(5):1095-1106. doi: 10.1016/j.jaci.2023.07.019. Epub 2023 Aug 12. J Allergy Clin Immunol. 2023. PMID: 37574079
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.
Primary Immunodeficiencies: Epidemiology in the Maghreb.
Bousfiha AA, Errami A, Jeddane L, Mellouli F, Reda SM, Adeli M, Al-Herz W, Zyoud R, Erwa N, Suleiman Y, Boukari R, Dakkoune M, Yagoubi A, Al-Mousa H, Arnaout R, Alhamadi S, Bejaoui M, Barbouche MR, AlSaoud B, Al-Dhekri H. Bousfiha AA, et al. Among authors: arnaout r. Tunis Med. 2018 Oct-Nov;96(10-11):672-677. Tunis Med. 2018. PMID: 30746660 Free article.
Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia.
Sheikh F, Alajlan H, Albanyan M, Alruwaili H, Alawami F, Sumayli S, Al Gazlan S, Abu Awwad S, Al-Dhekri H, Al-Saud B, Arnaout R, Alrayes H, Sayes N, Al-Hamed MH, Al-Mousa H, AlShareef S, Alazami AM. Sheikh F, et al. Among authors: arnaout r. J Clin Immunol. 2023 Feb;43(2):479-484. doi: 10.1007/s10875-022-01399-y. Epub 2022 Nov 8. J Clin Immunol. 2023. PMID: 36348183
Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review.
Sheikh F, Hawwari A, Alhissi S, Al Gazlan S, Al Dhekri H, Rehan Khaliq AM, Borrero E, El-Baik L, Arnaout R, Al-Mousa H, Alazami AM. Sheikh F, et al. Among authors: arnaout r. J Clin Immunol. 2017 Aug;37(6):575-581. doi: 10.1007/s10875-017-0423-5. Epub 2017 Jul 24. J Clin Immunol. 2017. PMID: 28741180 Review.
Hematopoietic stem cell transplantation corrects WIP deficiency.
Al-Mousa H, Hawwari A, Al-Ghonaium A, Al-Saud B, Al-Dhekri H, Al-Muhsen S, Elshorbagi S, Dasouki M, El-Baik L, Alseraihy A, Ayas M, Arnaout R. Al-Mousa H, et al. Among authors: arnaout r. J Allergy Clin Immunol. 2017 Mar;139(3):1039-1040.e4. doi: 10.1016/j.jaci.2016.08.036. Epub 2016 Oct 11. J Allergy Clin Immunol. 2017. PMID: 27742395 No abstract available.
Hereditary angioedema may be associated with the development of fatty liver.
Al-Qahtani AH, Arnaout R, Rehan Khaliq AM, Al Gazlan S, Sheikh F. Al-Qahtani AH, et al. Among authors: arnaout r. J Allergy Clin Immunol Pract. 2019 Jul-Aug;7(6):2082-2083. doi: 10.1016/j.jaip.2019.02.020. Epub 2019 Feb 27. J Allergy Clin Immunol Pract. 2019. PMID: 30825607 No abstract available.
44 results