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.
Published in Genome Biology (17.06.2020)
Published in Genome Biology (17.06.2020)
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Journal Article
A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis
Alanzi, Talal, Alhashem, Amal, Dagriri, Khalid, Alzahrani, Fatema, Alkuraya, Fowzan S
Published in European journal of human genetics : EJHG (01.04.2020)
Published in European journal of human genetics : EJHG (01.04.2020)
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Journal Article
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.
Published in Hepatology (Baltimore, Md.) (01.06.2020)
Published in Hepatology (Baltimore, Md.) (01.06.2020)
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Journal Article
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Alazami, Anas M., Al-Qattan, Sarah M., Faqeih, Eissa, Alhashem, Amal, Alshammari, Muneera, Alzahrani, Fatema, Al-Dosari, Mohammed S., Patel, Nisha, Alsagheir, Afaf, Binabbas, Bassam, Alzaidan, Hamad, Alsiddiky, Abdulmonem, Alharbi, Nasser, Alfadhel, Majid, Kentab, Amal, Daza, Riza M., Kircher, Martin, Shendure, Jay, Hashem, Mais, Alshahrani, Saif, Rahbeeni, Zuhair, Khalifa, Ola, Shaheen, Ranad, Alkuraya, Fowzan S.
Published in Human genetics (01.05.2016)
Published in Human genetics (01.05.2016)
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Journal Article
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
Shaheen, Ranad, Jiang, Nan, Alzahrani, Fatema, Ewida, Nour, Al-Sheddi, Tarfa, Alobeid, Eman, Musaev, Damir, Stanley, Valentina, Hashem, Mais, Ibrahim, Niema, Abdulwahab, Firdous, Alshenqiti, Abduljabbar, Sonmez, Fatma Mujgan, Saqati, Nadia, Alzaidan, Hamad, Al-Qattan, Mohammad M., Al-Mohanna, Futwan, Gleeson, Joseph G., Alkuraya, Fowzan S.
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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Journal Article
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort
Shaheen, Ranad, Patel, Nisha, Shamseldin, Hanan, Alzahrani, Fatema, Al-Yamany, Ruah, Al Moisheer, Agaadir, Ewida, Nour, Anazi, Shamsa, Alnemer, Maha, Elsheikh, Mohamed, Alfaleh, Khaled, Alshammari, Muneera, Alhashem, Amal, Alangari, Abdullah A., Salih, Mustafa A., Kircher, Martin, Daza, Riza M., Ibrahim, Niema, Wakil, Salma M., Alaqeel, Ahmed, Altowaijri, Ikhlas, Shendure, Jay, Al-Habib, Amro, Faqieh, Eissa, Alkuraya, Fowzan S.
Published in Genetics in medicine (01.07.2016)
Published in Genetics in medicine (01.07.2016)
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Journal Article
Lethal variants in humans: lessons learned from a large molecular autopsy cohort
Shamseldin, Hanan E, AlAbdi, Lama, Maddirevula, Sateesh, Alsaif, Hessa S, Alzahrani, Fatema, Ewida, Nour, Hashem, Mais, Abdulwahab, Firdous, Abuyousef, Omar, Kuwahara, Hiroyuki, Gao, Xin, Alkuraya, Fowzan S
Published in Genome medicine (13.10.2021)
Published in Genome medicine (13.10.2021)
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Journal Article
Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene
Alowaysi, Maryam, Astro, Veronica, Fiacco, Elisabetta, Alzahrani, Fatema, Alkuraya, Fowzan S., Adamo, Antonio
Published in Stem cell research (01.01.2021)
Published in Stem cell research (01.01.2021)
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Journal Article
FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome
Alazami, Anas M., Shaheen, Ranad, Alzahrani, Fatema, Snape, Katie, Saggar, Anand, Brinkmann, Bernd, Bavi, Prashant, Al-Gazali, Lihadh I., Alkuraya, Fowzan S.
Published in American journal of human genetics (01.09.2009)
Published in American journal of human genetics (01.09.2009)
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Journal Article
Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism
Alazami, Anas M., Al-Owain, Mohammad, Alzahrani, Fatema, Shuaib, Taghreed, Al-Shamrani, Hussain, Al-Falki, Yahya H., Al-Qahtani, Saleh M., Alsheddi, Tarfa, Colak, Dilek, Alkuraya, Fowzan S.
Published in Human mutation (01.10.2012)
Published in Human mutation (01.10.2012)
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Journal Article
Molecular characterization of Joubert syndrome in Saudi Arabia
Alazami, Anas M., Alshammari, Muneera J., Salih, Mustafa A., Alzahrani, Fatema, Hijazi, Hadia, Seidahmed, Mohammed Z., Abu Safieh, Leen, Aldosary, Mazhor, Khan, Arif O., Alkuraya, Fowzan S.
Published in Human mutation (01.10.2012)
Published in Human mutation (01.10.2012)
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Journal Article
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations
Faden, Maha, AlZahrani, Fatema, Mendoza-Londono, Roberto, Dupuis, Lucie, Hartley, Taila, Kannu, Peter, Raiman, Julian A., Howard, Andrew, Qin, Wen, Tetreault, Martine, Xi, Joan Qiongchao, Al-Thamer, Imadeddin, Maas, Richard L., Boycott, Kym, Alkuraya, Fowzan S.
Published in American journal of human genetics (01.10.2015)
Published in American journal of human genetics (01.10.2015)
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Journal Article
Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy
Shafique, Anum, Sultan, Tipu, Alzahrani, Fatema, Hun Seo, Go, Alkuraya, Fowzan S, Naz, Sadaf
Published in Gene (30.08.2023)
Published in Gene (30.08.2023)
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Journal Article
LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome
Alzahrani, Fatema, Al Hazzaa, Selwa A., Tayeb, Hamsa, Alkuraya, Fowzan S.
Published in Human genetics (01.04.2015)
Published in Human genetics (01.04.2015)
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Journal Article
Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
Alazami, 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.
Published in Cell reports (Cambridge) (13.01.2015)
Published in Cell reports (Cambridge) (13.01.2015)
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Journal Article
A de novo ATXN2L variant in a child with developmental delay and macrocephaly
Alzahrani, Fatema, Albatti, Turki H., Alkuraya, Fowzan S.
Published in American journal of medical genetics. Part A (01.03.2021)
Published in American journal of medical genetics. Part A (01.03.2021)
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Journal Article
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation
Shaheen, Ranad, Alazami, Anas M, Alshammari, Muneera J, Faqeih, Eissa, Alhashmi, Nadia, Mousa, Noon, Alsinani, Aisha, Ansari, Shinu, Alzahrani, Fatema, Al-Owain, Mohammed, Alzayed, Zayed S, Alkuraya, Fowzan S
Published in Journal of medical genetics (01.10.2012)
Published in Journal of medical genetics (01.10.2012)
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Journal Article
Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans
Alzahrani, Fatema, Kuwahara, Hiroyuki, Long, Yongkang, Al-Owain, Mohammed, Tohary, Mohamed, AlSayed, Moeenaldeen, Mahnashi, Mohammed, Fathi, Lana, Alnemer, Maha, Al-Hamed, Mohamed H., Lemire, Gabrielle, Boycott, Kym M., Hashem, Mais, Han, Wenkai, Al-Maawali, Almundher, Al Mahrizi, Feisal, Al-Thihli, Khalid, Gao, Xin, Alkuraya, Fowzan S.
Published in American journal of human genetics (03.12.2020)
Published in American journal of human genetics (03.12.2020)
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Journal Article
Autozygome and high throughput confirmation of disease genes candidacy
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
Published in Genetics in medicine (01.03.2019)
Published in Genetics in medicine (01.03.2019)
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