A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis

Authors: Al‐Hamed, Mohamed H., Altuwaijri, Norah, Alsahan, Nada, Ali, Wafaa, Abdulwahab, Firdous, Alzahrani, Fatema, Majrashi, Nada, Alkuraya, Fowzan S.

Source: Clinical genetics. 102(1):61-65

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Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Authors: Lin, Sheng-Jia, Vona, Barbara, Barbalho, Patricia G., Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T., Aubertin, Gudrun, Estrada-Veras, Juvianee I., Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L., Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S., Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Ambrose, J.C., Arumugam, P., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z., Mora, Sara, Palculict, Timothy B., Yang, Hui, Wren, Jonathan D., Ben Fowler, Joshi, Manali, Behra, Martine, Burgess, Shawn M., Nath, Swapan K., Hanna, Michael G., Kenna, Margaret, Merritt, J. Lawrence, II, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S., Haaf, Thomas, Alkuraya, Fowzan S., Gleeson, Joseph G., Varshney, Gaurav K.

Source: In Genetics in Medicine October 2021 23(10):1933-1943

Further delineation of SMG9‐related heart and brain malformation syndrome

Authors: Altuwaijri, Norah, Abdelbaky, Mona, Alhashem, Amal, Alrakaf, Maha, Hashem, Mais, Alzahrani, Fatema, Alkuraya, Fowzan S.

Source: American journal of medical genetics.Part A. 185(5):1624-1630

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100119113547.0x000001&indx=1&recIds=ETOCvdc_100119113547.0x000001

Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy

Authors: Shafique, Anum, Sultan, Tipu, Alzahrani, Fatema, Hun Seo, Go, Alkuraya, Fowzan S, Naz, Sadaf

Source: Gene. 879

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194569006.0x000001&indx=1&recIds=ETOCvdc_100194569006.0x000001

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans

Authors: 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.

Source: American journal of human genetics. 107(6):1178-1185

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100115514286.0x000001&indx=1&recIds=ETOCvdc_100115514286.0x000001

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

Authors: 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.

Source: Hepatology. 71(6):2067-2079

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107538327.0x000001&indx=1&recIds=ETOCvdc_100107538327.0x000001

Autozygome and high throughput confirmation of disease genes candidacy

Authors: 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. ^*

Source: In Genetics in Medicine March 2019 21(3):736-742

Expanding the phenome and variome of skeletal dysplasia

Authors: 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.

Source: In Genetics in Medicine December 2018 20(12):1609-1616

A de novo ATXN2L variant in a child with developmental delay and macrocephaly

Authors: Alzahrani, Fatema, Albatti, Turki H., Alkuraya, Fowzan S.

Source: American journal of medical genetics.Part A. 185(3):949-951

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100114531431.0x000001&indx=1&recIds=ETOCvdc_100114531431.0x000001

GWAS signals revisited using human knockouts

Authors: Maddirevula, Sateesh, AlZahrani, Fatema, Anazi, Shams, Almureikhi, Mariam, Ben-Omran, Tawfeg, Abdel-Salam, Ghada M.H., Hashem, Mais, Ibrahim, Niema, Abdulwahab, Firdous M., Meriki, Neama, Bashiri, Fahad A., Thong, Meow-Keong, Muthukumarasamy, Premala, Azwani Mazlan, Rifhan, Shaheen, Ranad, Alkuraya, Fowzan S.

Source: In Genetics in Medicine January 2018 20(1):64-68

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans

Authors: 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.

Source: American journal of human genetics. 104(4):731-737

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087578404.0x000001&indx=1&recIds=ETOCvdc_100087578404.0x000001

A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin

Authors: Al Mutairi, Fuad, Alzahrani, Fatema, Ababneh, Farouq, Kashgari, Amna A., Alkuraya, Fowzan S.

Source: Annals of neurology. 83(2):433-436

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100081731244.0x000001&indx=1&recIds=ETOCvdc_100081731244.0x000001

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort

Authors: 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.

Source: In Genetics in Medicine July 2016 18(7):686-695

Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene

Authors: Alowaysi, Maryam, Astro, Veronica, Fiacco, Elisabetta, Alzahrani, Fatema, Alkuraya, Fowzan S., Adamo, Antonio

Source: Stem cell research. 50

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100134200215.0x000001&indx=1&recIds=ETOCvdc_100134200215.0x000001

Correction to: Expanding the genetic heterogeneity of intellectual disability

Authors: 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.

Source: Human genetics. 137(1):105-109

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125870734.0x000001&indx=1&recIds=ETOCvdc_100125870734.0x000001

GWAS signals revisited using human knockouts

Authors: Maddirevula, Sateesh, AlZahrani, Fatema, Anazi, Shams, Almureikhi, Mariam, Ben-Omran, Tawfeg, Abdel-Salam, Ghada M H, Hashem, Mais, Ibrahim, Niema, Abdulwahab, Firdous M, Meriki, Neama, Bashiri, Fahad A, Thong, Meow-Keong, Muthukumarasamy, Premala, Azwani Mazlan, Rifhan, Shaheen, Ranad, Alkuraya, Fowzan S

Source: Genetics in medicine. 20(1):64-68

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100129950415.0x000001&indx=1&recIds=ETOCvdc_100129950415.0x000001

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

Authors: 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.

Source: Genome biology. 21(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100171989173.0x000001&indx=1&recIds=ETOCvdc_100171989173.0x000001

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

Authors: AlAbdi, Lama, Maddirevula, Sateesh, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Hamid, Halima, Almulhim, Aisha, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Alqahtani, Mashael, Altuwaijri, Norah, Jaafar, Amal, Alshidi, Tarfa, Alzahrani, Fatema, Al-Sagheir, Afaf I., Mansour, Ahmad M., Alawaji, Ali, Aldhilan, Amal, Alhashem, Amal

Source: Nature Communications; 8/29/2023, Vol. 14 Issue 1, p1-19, 19p

Subject Terms: RECESSIVE genes, EXOMES, GENETIC variation, FAMILIES, INFORMATION sharing, GENETIC disorder diagnosis, COMPLEX compounds

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

Authors: Khalak, Hanif G., Wakil, Salma M., Imtiaz, Faiqa, Ramzan, Khushnooda, Baz, Batoul, Almostafa, Abeer, Hagos, Samya, Alzahrani, Fatema, Abu-Dhaim, Nada, Safieh, Leen Abu, Al-Jbali, Latifa, Al-Hamed, Mohammed, Monies, Dorota, Aldahmesh, Mohammed, Al-Dosari, Mohammed S., Kaya, Namik, Shamseldin, Hanan, Shaheen, Ranad, Al-Rashed, May, Hashem, Mais, Al-Tassan, Nada, Meyer, Brian, Alazami, Anas M., Alkuraya, Fowzan S.

Source: In Genetics in Medicine May 2012 14(5):515-519

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

Authors: Alazami, Anas M., Al-Saif, Amr, Al-Semari, Abdulaziz, Bohlega, Saeed, Zlitni, Soumaya, Alzahrani, Fatema, Bavi, Prashant, Kaya, Namik, Colak, Dilek, Khalak, Hanif, Baltus, Andy, Peterlin, Borut, Danda, Sumita, Bhatia, Kailash P., Schneider, Susanne A., Sakati, Nadia, Walsh, Christopher A., Al-Mohanna, Futwan, Meyer, Brian, Alkuraya, Fowzan S.

Source: In The American Journal of Human Genetics 12 December 2008 83(6):684-691