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235 results for Alkuraya,+Fowzan+S.

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ArticlesPeer ReviewedFull Text
Homozygosity mapping: a game-changer for autosomal recessive diseases
Author / Creator:Alkuraya, Fowzan S.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2022-01, Vol.23 (1), p.2-3
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Fowzan Alkuraya: leading light in Saudi Human Genome Program
Author / Creator:Lane, Richard
Publisher:England: Elsevier Ltd
Journal title:The Lancet (British edition), 2017-07, Vol.390 (10093), p.446-446
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DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification
Author / Creator:Lentini, Jenna M. ; Alsaif, Hessa S. ; Faqeih, Eissa ; Alkuraya, Fowzan S. ; Fu, Dragony
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-05, Vol.11 (1), p.2510-14, Article 2510
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Genetic heterogeneity and evolutionary history of high-grade ovarian carcinoma and matched distant metastases
Author / Creator:Masoodi, Tariq ; Siraj, Sarah ; Siraj, Abdul K. ; Azam, Saud ; Qadri, Zeeshan ; Parvathareddy, Sandeep K. ; Tulbah, Asma ; Al-Dayel, Fouad ; AlHusaini, Hamed ; AlOmar, Osama ; Al-Badawi, Ismail A. ; Alkuraya, Fowzan S. ; Al-Kuraya, Khawla S.
Publisher:London: Nature Publishing Group UK
Journal title:British journal of cancer, 2020-04, Vol.122 (8), p.1219-1230
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A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition
Author / Creator:Shaheen, Ranad ; Han, Lu ; Faqeih, Eissa ; Ewida, Nour ; Alobeid, Eman ; Phizicky, Eric M. ; Alkuraya, Fowzan S.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2016-07, Vol.135 (7), p.707-713
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ArticlesPeer ReviewedFull Text
Population structure of indigenous inhabitants of Arabia
Author / Creator:Mineta, Katsuhiko ; Goto, Kosuke ; Gojobori, Takashi ; Alkuraya, Fowzan S
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2021-01, Vol.17 (1), p.e1009210-e1009210
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ArticlesPeer ReviewedFull Text
A genomics approach to females with infertility and recurrent pregnancy loss
Author / Creator:Maddirevula, Sateesh ; Awartani, Khalid ; Coskun, Serdar ; AlNaim, Latifa F. ; Ibrahim, Niema ; Abdulwahab, Firdous ; Hashem, Mais ; Alhassan, Saad ; Alkuraya, Fowzan S.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2020-05, Vol.139 (5), p.605-613
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ArticlesPeer ReviewedFull Text
Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial
Author / Creator:Ghazi, Nicola G. ; Abboud, Emad B. ; Nowilaty, Sawsan R. ; Alkuraya, Hisham ; Alhommadi, Abdulrahman ; Cai, Huimin ; Hou, Rui ; Deng, Wen-Tao ; Boye, Sanford L. ; Almaghamsi, Abdulrahman ; Al Saikhan, Fahad ; Al-Dhibi, Hassan ; Birch, David ; Chung, Christopher ; Colak, Dilek ; LaVail, Matthew M. ; Vollrath, Douglas ; Erger, Kirsten ; Wang, Wenqiu ; Conlon, Thomas ; Zhang, Kang ; Hauswirth, William ; Alkuraya, Fowzan S.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2016-03, Vol.135 (3), p.327-343
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ArticlesPeer ReviewedFull Text
ASTL is mutated in female infertility
Author / Creator:Maddirevula, Sateesh ; Coskun, Serdar ; Al-Qahtani, Mashael ; Aboyousef, Omar ; Alhassan, Saad ; Aldeery, Meshael ; Alkuraya, Fowzan S.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2022-01, Vol.141 (1), p.49-54
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ArticlesPeer ReviewedFull Text
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
Author / Creator:Al-Mayouf, Sulaiman M ; Sunker, Asma ; Abdwani, Reem ; Abrawi, Safiya Al ; Almurshedi, Fathiya ; Alhashmi, Nadia ; Al Sonbul, Abdullah ; Sewairi, Wafaa ; Qari, Aliya ; Abdallah, Eiman ; Al-Owain, Mohammed ; Al Motywee, Saleh ; Al-Rayes, Hanan ; Hashem, Mais ; Khalak, Hanif ; Al-Jebali, Latifa ; Alkuraya, Fowzan S
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2011-12, Vol.43 (12), p.1186-1188
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ArticlesPeer ReviewedFull Text
Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants
Author / Creator:Maddirevula, Sateesh ; Alhebbi, Hamoud ; Alqahtani, Awad ; Algoufi, Talal ; Alsaif, Hessa S. ; Ibrahim, Niema ; Abdulwahab, Firdous ; Barr, Mohammed ; Alzaidan, Hamad ; Almehaideb, Ali ; AlSasi, Omai ; Alhashem, Amal ; Hussaini, Hussa Al ; Wali, Sami ; Alkuraya, Fowzan S.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-05, Vol.21 (5), p.1164-1172
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ArticlesPeer ReviewedFull Text
Residual risk for additional recessive diseases in consanguineous couples
Author / Creator:AlAbdi, Lama ; Alrashseed, Shatha ; Alsulaiman, Ahood ; Helaby, Rana ; Imtiaz, Faiqa ; Alhamed, Mohamed ; Alkuraya, Fowzan S.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-12, Vol.23 (12), p.2448-2454
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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
A genomics approach to male infertility
Author / Creator:Alhathal, Naif ; Maddirevula, Sateesh ; Coskun, Serdar ; Alali, Hamed ; Assoum, Mirna ; Morris, Thomas ; Deek, Hesham A. ; Hamed, Soha A. ; Alsuhaibani, Shaheed ; Mirdawi, Abdulmalik ; Ewida, Nour ; Al-Qahtani, Mashael ; Ibrahim, Niema ; Abdulwahab, Firdous ; Altaweel, Waleed ; Dasouki, Majed J. ; Assiri, Abdullah ; Qabbaj, Wafa ; Alkuraya, Fowzan S.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-12, Vol.22 (12), p.1967-1975
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ArticlesPeer ReviewedFull Text
Increasing the sensitivity of clinical exome sequencing through improved filtration strategy
Author / Creator:Shamseldin, Hanan E. ; Maddirevula, Sateesh ; Faqeih, Eissa ; Ibrahim, Niema ; Hashem, Mais ; Shaheen, Ranad ; Alkuraya, Fowzan S.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2017-05, Vol.19 (5), p.593-598
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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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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
The morbid genome of ciliopathies: an update
Author / Creator:Shamseldin, Hanan E. ; Shaheen, Ranad ; Ewida, Nour ; Bubshait, Dalal K. ; Alkuraya, Hisham ; Almardawi, Elham ; Howaidi, Ali ; Sabr, Yasser ; Abdalla, Ebtesam M. ; Alfaifi, Abdullah Y. ; Alghamdi, Jameel Mohammed ; Alsagheir, Afaf ; Alfares, Ahmed ; Morsy, Heba ; Hussein, Maged H. ; Al–Muhaizea, Mohammad A. ; Shagrani, Mohammad ; Al Sabban, Essam ; Salih, Mustafa A. ; Meriki, Neama ; Khan, Rubina ; Almugbel, Maisoon ; Qari, Alya ; Tulba, Maha ; Mahnashi, Mohammed ; Alhazmi, Khalid ; Alsalamah, Abrar K. ; Nowilaty, Sawsan R. ; Alhashem, Amal ; Hashem, Mais ; Abdulwahab, Firdous ; Ibrahim, Niema ; Alshidi, Tarfa ; AlObeid, Eman ; Alenazi, Mona M. ; Alzaidan, Hamad ; Rahbeeni, Zuhair ; Al–Owain, Mohammed ; Sogaty, Sameera ; Seidahmed, Mohammed Zain ; Alkuraya, Fowzan S.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-06, Vol.22 (6), p.1051-1060
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ArticlesPeer ReviewedFull Text
Cone dystrophy associated with autoimmune polyglandular syndrome type 1
Author / Creator:Badawi, Abdulrahman ; Magliyah, Moustafa ; Alabbasi, Omar ; AlAbdi, Lama ; Alkuraya, Fowzan S. ; Schatz, Patrik ; ALBalawi, Hani Basher ; Mura, Marco
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-07, Vol.13 (1), p.11223-11223, Article 11223
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Homozygosity mapping: a game-changer for autosomal recessive diseases

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Fowzan Alkuraya: leading light in Saudi Human Genome Program

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DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification

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Genetic heterogeneity and evolutionary history of high-grade ovarian carcinoma and matched distant metastases

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A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition

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Population structure of indigenous inhabitants of Arabia

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A genomics approach to females with infertility and recurrent pregnancy loss

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Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial

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ASTL is mutated in female infertility

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Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

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Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants

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Residual risk for additional recessive diseases in consanguineous couples

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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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A genomics approach to male infertility

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Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

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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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The morbid genome of ciliopathies: an update

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Cone dystrophy associated with autoimmune polyglandular syndrome type 1

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