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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

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.

Human genetics, 2017-08, Vol.136 (8), p.921-939 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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2
Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification
Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification
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Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification

Monies, 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 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Expanding the genetic heterogeneity of intellectual disability
Expanding the genetic heterogeneity of intellectual disability
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Expanding the genetic heterogeneity of intellectual disability

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.

Human genetics, 2017-11, Vol.136 (11-12), p.1419-1429 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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4
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
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Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

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.

Genome Biology, 2020-06, Vol.21 (1), p.1-145, Article 145 [Periódico revisado por pares]

London: BioMed Central

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5
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development
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Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

Nahorski, Michael S ; Maddirevula, Sateesh ; Ishimura, Ryosuke ; Alsahli, Saud ; Brady, Angela F ; Begemann, Anaïs ; Mizushima, Tsunehiro ; Guzmán-Vega, Francisco J ; Obata, Miki ; Ichimura, Yoshinobu ; Alsaif, Hessa S ; Anazi, Shams ; Ibrahim, Niema ; Abdulwahab, Firdous ; Hashem, Mais ; Monies, Dorota ; Abouelhoda, Mohamed ; Meyer, Brian F ; Alfadhel, Majid ; Eyaid, Wafa ; Zweier, Markus ; Steindl, Katharina ; Rauch, Anita ; Arold, Stefan T ; Woods, C Geoffrey ; Komatsu, Masaaki ; Alkuraya, Fowzan S

Brain (London, England : 1878), 2018-07, Vol.141 (7), p.1934-1945 [Periódico revisado por pares]

England: Oxford University Press

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6
High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots
High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots
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High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots

Al-Mousa, Hamoud ; Al-Dakheel, Ghadah ; Jabr, Amal ; Elbadaoui, Fahd ; Abouelhoda, Mohamed ; Baig, Mansoor ; Monies, Dorota ; Meyer, Brian ; Hawwari, Abbas ; Dasouki, Majed

Frontiers in immunology, 2018-04, Vol.9, p.782-782 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

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7
SARS-CoV-2–Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease
SARS-CoV-2–Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease
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SARS-CoV-2–Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease

Al-Saud, Bandar ; Hazzazi, Khaled M. ; Mohammed, Reem ; Al Najjar, Alaa ; Al Hazmi, Tariq ; Monies, Dorota ; Alkuraya, Fowzan S.

Journal of clinical immunology, 2021-10, Vol.41 (7), p.1507-1510 [Periódico revisado por pares]

New York: Springer US

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8
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans
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Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans

Shaheen, Ranad ; Alsahli, Saud ; Ewida, Nour ; Alzahrani, Fatema ; Shamseldin, Hanan E. ; Patel, Nisha ; Al Qahtani, Awad ; Alhebbi, Homoud ; Alhashem, Amal ; Al‐Sheddi, Tarfa ; Alomar, Rana ; Alobeid, Eman ; Abouelhoda, Mohamed ; Monies, Dorota ; Al‐Hussaini, Abdulrahman ; Alzouman, Muneerah A. ; Shagrani, Mohammad ; Faqeih, Eissa ; Alkuraya, Fowzan S.

Hepatology (Baltimore, Md.), 2020-06, Vol.71 (6), p.2067-2079 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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9
Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families
Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families
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Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

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

Scientific reports, 2017-07, Vol.7 (1), p.5679-14, Article 5679 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission
Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission
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Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission

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

European journal of human genetics : EJHG, 2020-08, Vol.28 (8), p.1098-1110 [Periódico revisado por pares]

England: Nature Publishing Group

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