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Page 1
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: faquih t. 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.
Genetic profiling of children with advanced cholestatic liver disease.
Shagrani M, Burkholder J, Broering D, Abouelhoda M, Faquih T, El-Kalioby M, Subhani SN, Goljan E, Albar R, Monies D, Mazhar N, AlAbdulaziz BS, Abdelrahman KA, Altassan N, Alkuraya FS. Shagrani M, et al. Among authors: faquih t. Clin Genet. 2017 Jul;92(1):52-61. doi: 10.1111/cge.12959. Epub 2017 Mar 17. Clin Genet. 2017. PMID: 28039895
Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.
Patel N, Khan AO, Alsahli S, Abdel-Salam G, Nowilaty SR, Mansour AM, Nabil A, Al-Owain M, Sogati S, Salih MA, Kamal AM, Alsharif H, Alsaif HS, Alzahrani SS, Abdulwahab F, Ibrahim N, Hashem M, Faquih T, Shah ZA, Abouelhoda M, Monies D, Dasouki M, Shaheen R, Wakil SM, Aldahmesh MA, Alkuraya FS. Patel N, et al. Among authors: faquih t. Clin Genet. 2018 Jun;93(6):1210-1222. doi: 10.1111/cge.13239. Epub 2018 Mar 25. Clin Genet. 2018. PMID: 29450879
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.
Al-Hamed MH, Kurdi W, Alsahan N, Alabdullah Z, Abudraz R, Tulbah M, Alnemer M, Khan R, Al-Jurayb H, Alahmed A, Tahir AI, Khalil D, Edwards N, Al Abdulaziz B, Binhumaid FS, Majid S, Faquih T, El-Kalioby M, Abouelhoda M, Altassan N, Monies D, Meyer B, Sayer JA, Albaqumi M. Al-Hamed MH, et al. Among authors: faquih t. J Med Genet. 2016 May;53(5):338-47. doi: 10.1136/jmedgenet-2015-103469. Epub 2016 Feb 9. J Med Genet. 2016. PMID: 26862157 Free PMC article.
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.
Al-Mousa H, Abouelhoda M, Monies DM, Al-Tassan N, Al-Ghonaium A, Al-Saud B, Al-Dhekri H, Arnaout R, Al-Muhsen S, Ades N, Elshorbagi S, Al Gazlan S, Sheikh F, Dasouki M, El-Baik L, Elamin T, Jaber A, Kheir O, El-Kalioby M, Subhani S, Al Idrissi E, Al-Zahrani M, Alhelale M, Alnader N, Al-Otaibi A, Kattan R, Al Abdelrahman K, Al Breacan MM, Bin Humaid FS, Wakil SM, Alzayer F, Al-Dusery H, Faquih T, Al-Hissi S, Meyer BF, Hawwari A. Al-Mousa H, et al. Among authors: faquih t. J Allergy Clin Immunol. 2016 Jun;137(6):1780-1787. doi: 10.1016/j.jaci.2015.12.1310. Epub 2016 Feb 23. J Allergy Clin Immunol. 2016. PMID: 26915675
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.
Bohlega SA, Al-Mubarak BR, Alyemni EA, Abouelhoda M, Monies D, Mustafa AE, Khalil DS, Al Haibi S, Abou Al-Shaar H, Faquih T, El-Kalioby M, Tahir AI, Al Tassan NA. Bohlega SA, et al. Among authors: faquih t. BMC Res Notes. 2016 Jun 7;9:295. doi: 10.1186/s13104-016-2102-7. BMC Res Notes. 2016. PMID: 27268037 Free PMC article.
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.
Monies D, Alhindi HN, Almuhaizea MA, Abouelhoda M, Alazami AM, Goljan E, Alyounes B, Jaroudi D, AlIssa A, Alabdulrahman K, Subhani S, El-Kalioby M, Faquih T, Wakil SM, Altassan NA, Meyer BF, Bohlega S. Monies D, et al. Among authors: faquih t. Hum Genomics. 2016 Sep 27;10(1):32. doi: 10.1186/s40246-016-0089-8. Hum Genomics. 2016. PMID: 27671536 Free PMC article.
Revisiting the morbid genome of Mendelian disorders.
Abouelhoda M, Faquih T, El-Kalioby M, Alkuraya FS. Abouelhoda M, et al. Among authors: faquih t. Genome Biol. 2016 Nov 24;17(1):235. doi: 10.1186/s13059-016-1102-1. Genome Biol. 2016. PMID: 27884173 Free PMC article.
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: faquih t. Genome Biol. 2016 Nov 28;17(1):242. doi: 10.1186/s13059-016-1099-5. Genome Biol. 2016. PMID: 27894351 Free PMC article.
Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease.
Yemni EA, Monies D, Alkhairallah T, Bohlega S, Abouelhoda M, Magrashi A, Mustafa A, AlAbdulaziz B, Alhamed M, Baz B, Goljan E, Albar R, Jabaan A, Faquih T, Subhani S, Ali W, Shinwari J, Al-Mubarak B, Al-Tassan N. Yemni EA, et al. Among authors: faquih t. Sci Rep. 2019 Mar 4;9(1):3344. doi: 10.1038/s41598-019-40102-x. Sci Rep. 2019. PMID: 30833663 Free PMC article.
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