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Material Type: Artigo
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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomesMonies, Dorota ; Abouelhoda, Mohamed ; AlSayed, Moeenaldeen ; Alhassnan, Zuhair ; Alotaibi, Maha ; Al-Owain, Mohammed ; Shah, Ayaz ; Rahbeeni, Zuhair ; Al-Muhaizea, Mohammad A. ; Alzaidan, Hamad I. ; Cupler, Edward ; Bohlega, Saeed ; Faqeih, Eissa ; Faden, Maha ; Alyounes, Banan ; Jaroudi, Dyala ; Goljan, Ewa ; Elbardisy, Hadeel ; Akilan, Asma ; Albar, Renad ; Aldhalaan, Hesham ; Gulab, Shamshad ; Chedrawi, Aziza ; Al Saud, Bandar K ; Kurdi, Wesam ; Makhseed, Nawal ; Alqasim, Tahani ; El Khashab, Heba Y. ; Al-Mousa, Hamoud ; Kanaan, Imaduddin ; Algoufi, Talal ; Alsaleem, Khalid ; Basha, Talal A. ; Al-Murshedi, Fathiya ; Al-Kindy, Adila ; Al-Hajjar, Sami ; Alyamani, Suad ; Aldhekri, Hasan ; Al-Mehaidib, Ali ; Arnaout, Rand ; Dabbagh, Omar ; Shagrani, Mohammad ; Broering, Dieter ; Alqassmi, Amal ; Almugbel, Maisoon ; AlQuaiz, Mohammed ; Alsaman, Abdulaziz ; Al-Thihli, Khalid ; Sulaiman, Raashda A. ; Al-Dekhail, Wajeeh ; Alsaegh, Abeer ; Bashiri, Fahad A. ; Qari, Alya ; Alhomadi, Suzan ; Alkuraya, Hisham ; Alsebayel, Mohammed ; Hamad, Muddathir H ; Szonyi, Laszlo ; Abaalkhail, Faisal ; Al-Mayouf, Sulaiman M. ; Almojalli, Hamad ; Alqadi, Khalid S. ; Elsiesy, Hussien ; Shuaib, Taghreed M. ; Seidahmed, Mohammed Zain ; Abosoudah, Ibraheem ; Akleh, Hana ; AlGhonaium, Abdulaziz ; Alkharfy, Turki M. ; Al Mutairi, Fuad ; Eyaid, Wafa ; Alshanbary, Abdullah ; Sheikh, Farrukh R. ; Alsohaibani, Fahad I. ; Al Tala, Saeed ; Balkhy, Soher ; Bassiouni, Randa ; Alenizi, Ahmed S. ; Hussein, Maged H. ; Hassan, Saeed ; Khalil, Mohamed ; Tabarki, Brahim ; Alshahwan, Saad ; Oshi, Amira ; Sabr, Yasser ; Alsaadoun, Saad ; Salih, Mustafa A. ; Mohamed, Sarar ; Sultana, Habiba ; Tamim, Abdullah ; El-Haj, Moayad ; Alshahrani, Saif ; Bubshait, Dalal K. ; Alfadhel, Majid ; Faquih, Tariq ; El-Kalioby, Mohamed ; Shah, Zeeshan ; Moghrabi, Nabil ; Meyer, Brian F. ; Alkuraya, Fowzan S.Human genetics, 2017-08, Vol.136 (8), p.921-939 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Characterizing the morbid genome of ciliopathiesShaheen, Ranad ; Szymanska, Katarzyna ; Basu, Basudha ; Patel, Nisha ; Ewida, Nour ; Faqeih, Eissa ; Al Hashem, Amal ; Derar, Nada ; Alsharif, Hadeel ; Aldahmesh, Mohammed A ; Alazami, Anas M ; Hashem, Mais ; Ibrahim, Niema ; Abdulwahab, Firdous M ; Sonbul, Rawda ; Alkuraya, Hisham ; Alnemer, Maha ; Al Tala, Saeed ; Al-Husain, Muneera ; Morsy, Heba ; Seidahmed, Mohammed Zain ; Meriki, Neama ; Al-Owain, Mohammed ; AlShahwan, Saad ; Tabarki, Brahim ; Salih, Mustafa A ; Faquih, Tariq ; El-Kalioby, Mohamed ; Ueffing, Marius ; Boldt, Karsten ; Logan, Clare V ; Parry, David A ; Al Tassan, Nada ; Monies, Dorota ; Megarbane, Andre ; Abouelhoda, Mohamed ; Halees, Anason ; Johnson, Colin A ; Alkuraya, Fowzan SGenome Biology, 2016-11, Vol.17 (1), p.242-242, Article 242 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |
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Material Type: Artigo
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Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnosticsMaddirevula, Sateesh ; Kuwahara, Hiroyuki ; Ewida, Nour ; Shamseldin, Hanan E. ; Patel, Nisha ; Alzahrani, Fatema ; AlSheddi, Tarfa ; AlObeid, Eman ; Alenazi, Mona ; Alsaif, Hessa S. ; Alqahtani, Maha ; AlAli, Maha ; Al Ali, Hatoon ; Helaby, Rana ; Ibrahim, Niema ; Abdulwahab, Firdous ; Hashem, Mais ; Hanna, Nadine ; Monies, Dorota ; Derar, Nada ; Alsagheir, Afaf ; Alhashem, Amal ; Alsaleem, Badr ; Alhebbi, Hamoud ; Wali, Sami ; Umarov, Ramzan ; Gao, Xin ; Alkuraya, Fowzan S.Genome Biology, 2020-06, Vol.21 (1), p.1-145, Article 145 [Periódico revisado por pares]London: BioMed CentralTexto completo disponível |
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Material Type: Artigo
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Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi populationGoljan, Ewa ; Abouelhoda, Mohammed ; Tahir, Asma ; ElKalioby, Mohamed ; Meyer, Brian ; Monies, DorotaHuman genomics, 2024-03, Vol.18 (1), p.30-30, Article 30 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |
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Material Type: Artigo
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Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi familiesAl-Mubarak, Bashayer ; Abouelhoda, Mohamed ; Omar, Aisha ; AlDhalaan, Hesham ; Aldosari, Mohammed ; Nester, Michael ; Alshamrani, Hussain A ; El-Kalioby, Mohamed ; Goljan, Ewa ; Albar, Renad ; Subhani, Shazia ; Tahir, Asma ; Asfahani, Sultana ; Eskandrani, Alaa ; Almusaiab, Ahmed ; Magrashi, Amna ; Shinwari, Jameela ; Monies, Dorota ; Al Tassan, NadaScientific reports, 2017-07, Vol.7 (1), p.5679-14, Article 5679 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Molecular classification of blood and bleeding disorder genesBaz, Batoul ; Abouelhoda, Mohamed ; Owaidah, Tarek ; Dasouki, Majed ; Monies, Dorota ; Al Tassan, NadaNpj genomic medicine, 2021-07, Vol.6 (1), p.62-62, Article 62 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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KIAA0556 is a novel ciliary basal body component mutated in Joubert syndromeSanders, Anna A W M ; de Vrieze, Erik ; Alazami, Anas M ; Alzahrani, Fatema ; Malarkey, Erik B ; Sorusch, Nasrin ; Tebbe, Lars ; Kuhns, Stefanie ; van Dam, Teunis J P ; Alhashem, Amal ; Tabarki, Brahim ; Lu, Qianhao ; Lambacher, Nils J ; Kennedy, Julie E ; Bowie, Rachel V ; Hetterschijt, Lisette ; van Beersum, Sylvia ; van Reeuwijk, Jeroen ; Boldt, Karsten ; Kremer, Hannie ; Kesterson, Robert A ; Monies, Dorota ; Abouelhoda, Mohamed ; Roepman, Ronald ; Huynen, Martijn H ; Ueffing, Marius ; Russell, Rob B ; Wolfrum, Uwe ; Yoder, Bradley K ; van Wijk, Erwin ; Alkuraya, Fowzan S ; Blacque, Oliver EGenome Biology, 2015-12, Vol.16 (1), p.293-293, Article 293 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |
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Material Type: Artigo
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Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data miningAbouelhoda, Mohamed ; Mohty, Dania ; Alayary, Islam ; Meyer, Brian F ; Arold, Stefan T ; Fadel, Bahaa M ; Monies, DorotaHuman genomics, 2021-08, Vol.15 (1), p.52-52, Article 52 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |
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Material Type: Artigo
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The clinical utility of rapid exome sequencing in a consanguineous populationMonies, Dorota ; Goljan, Ewa ; Assoum, Mirna ; Albreacan, Muna ; Binhumaid, Faisal ; Subhani, Shazia ; Boureggah, Abdulmlik ; Hashem, Mais ; Abdulwahab, Firdous ; Abuyousef, Omar ; Temsah, Mohamad H ; Alsohime, Fahad ; Kelaher, James ; Abouelhoda, Mohamed ; Meyer, Brian F ; Alkuraya, Fowzan SGenome medicine, 2023-06, Vol.15 (1), p.44-44, Article 44 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a siblingKor, Yılmaz ; Zou, Minjing ; Al-Rijjal, Roua A ; Monies, Dorota ; Meyer, Brian F ; Shi, YufeiBMC medical genetics, 2018-07, Vol.19 (1), p.115-115, Article 115 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |