Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Article
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Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseasesAl-Mousa, Hamoud, MD ; Abouelhoda, Mohamed, PhD ; Monies, Dorota M., PhD ; Al-Tassan, Nada, PhD ; Al-Ghonaium, Abdulaziz, MD ; Al-Saud, Bandar, MD ; Al-Dhekri, Hasan, MD ; Arnaout, Rand, MD ; Al-Muhsen, Saleh, MD ; Ades, Nazema, BN ; Elshorbagi, Sahar, MD ; Al Gazlan, Sulaiman, MD ; Sheikh, Farrukh, MD ; Dasouki, Majed, MD ; El-Baik, Lina, BSc ; Elamin, Tanzeil, MS ; Jaber, Amal, BSc ; Kheir, Omnia, BPharm ; El-Kalioby, Mohamed, MS ; Subhani, Shazia, MS ; Al Idrissi, Eman, MD ; Al-Zahrani, Mofareh, MD ; Alhelale, Maryam, MD ; Alnader, Noukha, BSc ; Al-Otaibi, Afaf, BSc ; Kattan, Rana, BSc ; Al Abdelrahman, Khalid, BSc ; Al Breacan, Muna M., BSc ; Bin Humaid, Faisal S., BSc ; Wakil, Salma Majid, PhD ; Alzayer, Fadi, BSc ; Al-Dusery, Haya, BSc ; Faquih, Tariq, MS ; Al-Hissi, Safa, BSc ; Meyer, Brian F., PhD ; Hawwari, Abbas, PhDJournal of allergy and clinical immunology, 2016-06, Vol.137 (6), p.1780-1787 [Peer Reviewed Journal]United States: Elsevier IncFull text available |
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2 |
Material Type: Article
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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 [Peer Reviewed Journal]Berlin/Heidelberg: Springer Berlin HeidelbergFull text available |
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3 |
Material Type: Article
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Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine ModificationMonies, Dorota ; Vågbø, Cathrine Broberg ; Al-Owain, Mohammad ; Alhomaidi, Suzan ; Alkuraya, Fowzan S.American journal of human genetics, 2019-06, Vol.104 (6), p.1202-1209 [Peer Reviewed Journal]United States: Elsevier IncFull text available |
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4 |
Material Type: Article
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Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous FamiliesAlazami, Anas M. ; Patel, Nisha ; Shamseldin, Hanan E. ; Anazi, Shamsa ; Al-Dosari, Mohammed S. ; Alzahrani, Fatema ; Hijazi, Hadia ; Alshammari, Muneera ; Aldahmesh, Mohammed A. ; Salih, Mustafa A. ; Faqeih, Eissa ; Alhashem, Amal ; Bashiri, Fahad A. ; Al-Owain, Mohammed ; Kentab, Amal Y. ; Sogaty, Sameera ; Al Tala, Saeed ; Temsah, Mohamad-Hani ; Tulbah, Maha ; Aljelaify, Rasha F. ; Alshahwan, Saad A. ; Seidahmed, Mohammed Zain ; Alhadid, Adnan A. ; Aldhalaan, Hesham ; AlQallaf, Fatema ; Kurdi, Wesam ; Alfadhel, Majid ; Babay, Zainab ; Alsogheer, Mohammad ; Kaya, Namik ; Al-Hassnan, Zuhair N. ; Abdel-Salam, Ghada M.H. ; Al-Sannaa, Nouriya ; Al Mutairi, Fuad ; El Khashab, Heba Y. ; Bohlega, Saeed ; Jia, Xiaofei ; Nguyen, Henry C. ; Hammami, Rakad ; Adly, Nouran ; Mohamed, Jawahir Y. ; Abdulwahab, Firdous ; Ibrahim, Niema ; Naim, Ewa A. ; Al-Younes, Banan ; Meyer, Brian F. ; Hashem, Mais ; Shaheen, Ranad ; Xiong, Yong ; Abouelhoda, Mohamed ; Aldeeri, Abdulrahman A. ; Monies, Dorota M. ; Alkuraya, Fowzan S.Cell reports (Cambridge), 2015-01, Vol.10 (2), p.148-161 [Peer Reviewed Journal]United States: Elsevier IncFull text available |
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5 |
Material Type: Article
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Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burdenAbouelhoda, Mohamed ; Sobahy, Turki ; El-Kalioby, Mohamed ; Patel, Nisha ; Shamseldin, Hanan ; Monies, Dorota ; Al-Tassan, Nada ; Ramzan, Khushnooda ; Imtiaz, Faiqa ; Shaheen, Ranad ; Alkuraya, Fowzan S.Genetics in medicine, 2016-12, Vol.18 (12), p.1244-1249 [Peer Reviewed Journal]United States: Elsevier IncNo full-text |
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6 |
Material Type: Article
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Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic ArthritisWakil, Salma M. ; Monies, Dorota M. ; Abouelhoda, Mohamed ; Al‐Tassan, Nada ; Al‐Dusery, Haya ; Naim, Ewa A. ; Al‐Younes, Banan ; Shinwari, Jameela ; Al‐Mohanna, Futwan A. ; Meyer, Brian F. ; Al‐Mayouf, SulaimanArthritis & rheumatology (Hoboken, N.J.), 2015-01, Vol.67 (1), p.288-295 [Peer Reviewed Journal]United States: Wiley Subscription Services, IncFull text available |
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7 |
Material Type: Article
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Expanding the genetic heterogeneity of intellectual disabilityAnazi, Shams ; Maddirevula, Sateesh ; Salpietro, Vincenzo ; Asi, Yasmine T. ; Alsahli, Saud ; Alhashem, Amal ; Shamseldin, Hanan E. ; AlZahrani, Fatema ; Patel, Nisha ; Ibrahim, Niema ; Abdulwahab, Firdous M. ; Hashem, Mais ; Alhashmi, Nadia ; Al Murshedi, Fathiya ; Al Kindy, Adila ; Alshaer, Ahmad ; Rumayyan, Ahmed ; Al Tala, Saeed ; Kurdi, Wesam ; Alsaman, Abdulaziz ; Alasmari, Ali ; Banu, Selina ; Sultan, Tipu ; Saleh, Mohammed M. ; Alkuraya, Hisham ; Salih, Mustafa A. ; Aldhalaan, Hesham ; Ben-Omran, Tawfeg ; Al Musafri, Fatima ; Ali, Rehab ; Suleiman, Jehan ; Tabarki, Brahim ; El-Hattab, Ayman W. ; Bupp, Caleb ; Alfadhel, Majid ; Al Tassan, Nada ; Monies, Dorota ; Arold, Stefan T. ; Abouelhoda, Mohamed ; Lashley, Tammaryn ; Houlden, Henry ; Faqeih, Eissa ; Alkuraya, Fowzan S.Human genetics, 2017-11, Vol.136 (11-12), p.1419-1429 [Peer Reviewed Journal]Berlin/Heidelberg: Springer Berlin HeidelbergFull text available |
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8 |
Material Type: Article
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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 [Peer Reviewed Journal]England: BioMed Central LtdFull text available |
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9 |
Material Type: Article
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Autozygome and high throughput confirmation of disease genes candidacyMaddirevula, Sateesh ; Alzahrani, Fatema ; Al-Owain, Mohammed ; Al Muhaizea, Mohammad A ; Kayyali, Husam R ; AlHashem, Amal ; Rahbeeni, Zuhair ; Al-Otaibi, Maha ; Alzaidan, Hamad I ; Balobaid, Ameera ; El Khashab, Heba Y ; Bubshait, Dalal K ; Faden, Maha ; Yamani, Suad Al ; Dabbagh, Omar ; Al-Mureikhi, Mariam ; Jasser, Abdulla Al ; Alsaif, Hessa S ; Alluhaydan, Iram ; Seidahmed, Mohammed Zain ; Alabbasi, Bashair Hamza ; Almogarri, Ibrahim ; Kurdi, Wesam ; Akleh, Hana ; Qari, Alya ; Al Tala, Saeed M ; Alhomaidi, Suzan ; Kentab, Amal Y ; Salih, Mustafa A ; Chedrawi, Aziza ; Alameer, Seham ; Tabarki, Brahim ; Shamseldin, Hanan E ; Patel, Nisha ; Ibrahim, Niema ; Abdulwahab, Firdous ; Samira, Menasria ; Goljan, Ewa ; Abouelhoda, Mohamed ; Meyer, Brian F ; Hashem, Mais ; Shaheen, Ranad ; AlShahwan, Saad ; Alfadhel, Majid ; Ben-Omran, Tawfeg ; Al-Qattan, Mohammad M ; Monies, Dorota ; Alkuraya, Fowzan SGenetics in medicine, 2019-03, Vol.21 (3), p.736-742 [Peer Reviewed Journal]United States: Elsevier LimitedNo full-text |
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10 |
Material Type: Article
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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 [Peer Reviewed Journal]London: BioMed Central LtdFull text available |