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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
Author / Creator:Monies, 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.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2017-08, Vol.136 (8), p.921-939
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Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden
Author / Creator:Abouelhoda, Mohamed ; Sobahy, Turki ; El-Kalioby, Mohamed ; Patel, Nisha ; Shamseldin, Hanan ; Monies, Dorota ; Al-Tassan, Nada ; Ramzan, Khushnooda ; Imtiaz, Faiqa ; Shaheen, Ranad ; Alkuraya, Fowzan S.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2016-12, Vol.18 (12), p.1244-1249
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Expanding the genetic heterogeneity of intellectual disability
Author / Creator:Anazi, 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.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2017-11, Vol.136 (11-12), p.1419-1429
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Characterizing the morbid genome of ciliopathies
Author / Creator:Shaheen, 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 S.
Publisher:England: BioMed Central Ltd
Journal title:Genome Biology, 2016-11, Vol.17 (1), p.242-242, Article 242
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Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
Author / Creator:Maddirevula, 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.
Publisher:London: BioMed Central Ltd
Journal title:Genome Biology, 2020-06, Vol.21 (1), p.145-145, Article 145
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Autozygome and high throughput confirmation of disease genes candidacy
Author / Creator:Maddirevula, 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 S.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-03, Vol.21 (3), p.736-742
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Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population
Author / Creator:Goljan, Ewa ; Abouelhoda, Mohammed ; ElKalioby, Mohamed M. ; Jabaan, Amjad ; Alghithi, Nada ; Meyer, Brian F. ; Monies, Dorota
Publisher:United States: Public Library of Science
Journal title:PloS one, 2022-01, Vol.17 (1), p.e0263137-e0263137
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Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population
Author / Creator:Goljan, Ewa ; Abouelhoda, Mohammed ; Tahir, Asma ; ElKalioby, Mohamed ; Meyer, Brian ; Monies, Dorota
Publisher:England: BioMed Central
Journal title:Human genomics, 2024-03, Vol.18 (1), p.30-8, Article 30
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Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families
Author / Creator:Al-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, Nada
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-07, Vol.7 (1), p.5679-14, Article 5679
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Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation
Author / Creator:Monies, Dorota ; Maddirevula, Sateesh ; Kurdi, Wesam ; Alanazy, Mohammed H. ; Alkhalidi, Hisham ; Al-Owain, Mohammed ; Sulaiman, Raashda A. ; Faqeih, Eissa ; Goljan, Ewa ; Ibrahim, Niema ; Abdulwahab, Firdous ; Hashem, Mais ; Abouelhoda, Mohamed ; Shaheen, Ranad ; Arold, Stefan T. ; Alkuraya, Fowzan S.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2017-10, Vol.19 (10), p.1144-1150
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SARS-CoV-2–Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease
Author / Creator:Al-Saud, Bandar ; Hazzazi, Khaled M. ; Mohammed, Reem ; Al Najjar, Alaa ; Al Hazmi, Tariq ; Monies, Dorota ; Alkuraya, Fowzan S.
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2021-10, Vol.41 (7), p.1507-1510
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Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Disease
Author / Creator:Yemni, Eman Al ; Monies, Dorota ; Alkhairallah, Thamer ; Bohlega, Saeed ; Abouelhoda, Mohamed ; Magrashi, Amna ; Mustafa, Abeer ; AlAbdulaziz, Basma ; Alhamed, Mohamed ; Baz, Batoul ; Goljan, Ewa ; Albar, Renad ; Jabaan, Amjad ; Faquih, Tariq ; Subhani, Shazia ; Ali, Wafa ; Shinwari, Jameela ; Al-Mubarak, Bashayer ; Al-Tassan, Nada
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-03, Vol.9 (1), p.3344-3344, Article 3344
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Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission
Author / Creator:Al-Mubarak, Bashayer R. ; Omar, Aisha ; Baz, Batoul ; Al-Abdulaziz, Basma ; Magrashi, Amna I. ; Al-Yemni, Eman ; Jabaan, Amjad ; Monies, Dorota ; Abouelhoda, Mohamed ; Abebe, Dejene ; Ghaziuddin, Mohammad ; Al-Tassan, Nada A.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-08, Vol.28 (8), p.1098-1110
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De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype
Author / Creator:Derar, Nada ; Al-Hassnan, Zuhair N ; Al-Owain, Mohammed ; Monies, Dorota ; Abouelhoda, Mohamed ; Meyer, Brian F ; Moghrabi, Nabil ; Alkuraya, Fowzan S
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2019-01, Vol.21 (1), p.185-188
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Expanding the phenome and variome of skeletal dysplasia
Author / Creator:Maddirevula, Sateesh ; Alsahli, Saud ; Alhabeeb, Lamees ; Patel, Nisha ; Alzahrani, Fatema ; Shamseldin, Hanan E. ; Anazi, Shams ; Ewida, Nour ; Alsaif, Hessa S. ; Mohamed, Jawahir Y. ; Alazami, Anas M. ; Ibrahim, Niema ; Abdulwahab, Firdous ; Hashem, Mais ; Abouelhoda, Mohamed ; Monies, Dorota ; Al Tassan, Nada ; Alshammari, Muneera ; Alsagheir, Afaf ; Seidahmed, Mohammed Zain ; Sogati, Samira ; Aglan, Mona S ; Hamad, Muddathir H. ; Salih, Mustafa A. ; Hamed, Ahlam A. ; Alhashmi, Nadia ; Nabil, Amira ; Alfadli, Fatima ; Abdel-Salam, Ghada M.H. ; Alkuraya, Hisham ; Peitee, Winnie Ong ; Keng, W.T. ; Qasem, Abdullah ; Mushiba, Aziza M. ; Zaki, Maha S ; Fassad, Mahmoud R. ; Alfadhel, Majid ; Alexander, Saji ; Sabr, Yasser ; Temtamy, Samia ; Ekbote, Alka V ; Ismail, Samira ; Hosny, Gamal Ahmed ; Otaify, Ghada A. ; Amr, Khalda ; Al Tala, Saeed ; Khan, Arif O. ; Rizk, Tamer ; Alaqeel, Aida ; Alsiddiky, Abdulmonem ; Singh, Ankur ; Kapoor, Seema ; Alhashem, Amal ; Faqeih, Eissa ; Shaheen, Ranad ; Alkuraya, Fowzan S.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2018-12, Vol.20 (12), p.1609-1616
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Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotype...
Author / Creator:Al-Hamed, Mohamed H. ; Kurdi, Wesam ; Khan, Rubina ; Tulbah, Maha ; AlNemer, Maha ; AlSahan, Nada ; AlMugbel, Maisoon ; Rafiullah, Rafiullah ; Assoum, Mirna ; Monies, Dorota ; Shah, Zeeshan ; Rahbeeni, Zuhair ; Derar, Nada ; Hakami, Fahad ; Almutairi, Gawaher ; AlOtaibi, Afaf ; Ali, Wafaa ; AlShammasi, Amal ; AlMubarak, Wardah ; AlDawoud, Samia ; AlAmri, Saja ; Saeed, Bashayer ; Bukhari, Hanifa ; Ali, Mohannad ; Akili, Rana ; Alquayt, Laila ; Hagos, Samia ; Elbardisy, Hadeel ; Akilan, Asma ; Almuhana, Nora ; AlKhalifah, Abrar ; Abouelhoda, Mohamed ; Ramzan, Khushnooda ; Sayer, John A. ; Imtiaz, Faiqa
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2022-01, Vol.141 (1), p.101-126
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Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia
Author / Creator:Alharbi, Norah ; Matar, Rawan ; Cupler, Edward ; Al-Hindi, Hindi ; Murad, Hatem ; Alhomud, Iftteah ; Monies, Dorota ; Alshehri, Ali ; Alyahya, Mossaed ; Meyer, Brian ; Bohlega, Saeed
Publisher:Lausanne: Frontiers Research Foundation
Journal title:Frontiers in neuroscience, 2022-02
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Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency
Author / Creator:Balasubramanian, Ravikumar ; Choi, Jin-Ho ; Francescatto, Ludmila ; Willer, Jason ; Horton, Edward R. ; Asimacopoulos, Eleni P. ; Stankovic, Konstantina M. ; Plummer, Lacey ; Buck, Cassandra L. ; Quinton, Richard ; Nebesio, Todd D. ; Mericq, Veronica ; Merino, Paulina M. ; Meyer, Brian F. ; Monies, Dorota ; Gusella, James F. ; Tassan, Nada Al ; Katsanis, Nicholas ; Crowley, William F.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2014-12, Vol.111 (50), p.17953-17958
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Molecular classification of blood and bleeding disorder genes
Author / Creator:Baz, Batoul ; Abouelhoda, Mohamed ; Owaidah, Tarek ; Dasouki, Majed ; Monies, Dorota ; Al Tassan, Nada
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2021-07, Vol.6 (1), p.62-62, Article 62
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KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
Author / Creator:Sanders, 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 E.
Publisher:England: BioMed Central Ltd
Journal title:Genome Biology, 2015-12, Vol.16 (1), p.293-293, Article 293
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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

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Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

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Expanding the genetic heterogeneity of intellectual disability

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Characterizing the morbid genome of ciliopathies

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Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

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Autozygome and high throughput confirmation of disease genes candidacy

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Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population

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Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population

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Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

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Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

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SARS-CoV-2–Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease

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Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Disease

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Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission

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De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype

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Expanding the phenome and variome of skeletal dysplasia

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Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotype...

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Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia

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Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

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Molecular classification of blood and bleeding disorder genes

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KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

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