DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification von Lentini, Jenna M., Alsaif, Hessa S., Faqeih, Eissa, Alkuraya, Fowzan S., Fu, Dragony

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Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2 von Maddirevula, Sateesh, Coskun, Serdar, Alhassan, Saad, Elnour, Atif, Alsaif, Hessa S., Ibrahim, Niema, Abdulwahab, Firdous, Arold, Stefan T., Alkuraya, Fowzan S.

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

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Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome von Alsaif, Hessa S., Al-Owain, Mohammad, Barrios-Llerena, Martin E., Gosadi, Ghada, Binamer, Yousef, Devadason, David, Ravenscroft, Jane, Suri, Mohnish, Alkuraya, Fowzan S.

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

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Optimizing the algae-bacteria biofilm reactor for imidacloprid wastewater treatment: An evaluation of hydraulic retention times for enhanced efficiency and energy savings von Cheng, Yongtao, Quan, Linghui, Vadiveloo, Ashiwin, Yang, Lie, Saber, Abdullah A., Lan, Shubin, A. Alsaif, Sara S., Wang, Zhaojun, Wu, Li

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

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Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism von Reynolds, John J, Bicknell, Louise S, Carroll, Paula, Higgs, Martin R, Shaheen, Ranad, Murray, Jennie E, Papadopoulos, Dimitrios K, Leitch, Andrea, Murina, Olga, Tarnauskaitė, Žygimantė, Wessel, Sarah R, Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex, Mottram, Rachel M A, Logan, Clare V, Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C, Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S, Amar, Ariella, Prescott, Natalie J, Bober, Michael B, Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, Saleem, Al-Aama, Jumana Yousuf, Altmüller, Janine, Al Balwi, Mohammed, Brady, Angela F, Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D, Hobson, Emma, Nürnberg, Peter, Percin, E Ferda, Peron, Angela, Spaccini, Luigina, Quigley, Alan J, Thakur, Seema, Wise, Carol A, Yoon, Grace, Alnemer, Maha, Tomancak, Pavel, Yigit, Gökhan, Taylor, A Malcolm R, Reijns, Martin A M, Simpson, Michael A, Cortez, David, Alkuraya, Fowzan S, Mathew, Christopher G, Jackson, Andrew P, Stewart, Grant S

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Using a Deep Learning Model to Explore the Impact of Clinical Data on COVID-19 Diagnosis Using Chest X-ray von Khan, Irfan Ullah, Aslam, Nida, Anwar, Talha, Alsaif, Hind S, Chrouf, Sara Mhd Bachar, Alzahrani, Norah A, Alamoudi, Fatimah Ahmed, Kamaleldin, Mariam Moataz Aly, Awary, Khaled Bassam

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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants von Neuray, Caroline, Maroofian, Reza, Scala, Marcello, Sultan, Tipu, Pai, Gurpur S, Mojarrad, Majid, Khashab, Heba El, deHoll, Leigh, Yue, Wyatt, Alsaif, Hessa S, Zanetti, Maria N, Bello, Oscar, Person, Richard, Eslahi, Atieh, Khazaei, Zaynab, Feizabadi, Masoumeh H, Efthymiou, Stephanie, El-Bassyouni, Hala T, Soliman, Doaa R, Tekes, Selahattin, Ozer, Leyla, Baltaci, Volkan, Khan, Suliman, Beetz, Christian, Amr, Khalda S, Salpietro, Vincenzo, Jamshidi, Yalda, Alkuraya, Fowzan S, Houlden, Henry

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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy von Marafi, Dana, Fatih, Jawid M, Kaiyrzhanov, Rauan, Ferla, Matteo P, Gijavanekar, Charul, Al-Maraghi, Aljazi, Liu, Ning, Sites, Emily, Alsaif, Hessa S, Al-Owain, Mohammad, Zakkariah, Mohamed, El-Anany, Ehab, Guliyeva, Ulviyya, Guliyeva, Sughra, Gaba, Colette, Haseeb, Ateeq, Alhashem, Amal M, Danish, Enam, Karageorgou, Vasiliki, Beetz, Christian, Subhi, Alaa A, Mullegama, Sureni V, Torti, Erin, Sebastin, Monisha, Breilyn, Margo Sheck, Duberstein, Susan, Abdel-Hamid, Mohamed S, Mitani, Tadahiro, Du, Haowei, Rosenfeld, Jill A, Jhangiani, Shalini N, Coban Akdemir, Zeynep, Gibbs, Richard A, Taylor, Jenny C, Fakhro, Khalid A, Hunter, Jill V, Pehlivan, Davut, Zaki, Maha S, Gleeson, Joseph G, Maroofian, Reza, Houlden, Henry, Posey, Jennifer E, Sutton, V Reid, Alkuraya, Fowzan S, Elsea, Sarah H, Lupski, James R

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Virtual consultations for patients with obstructive sleep apnoea: a systematic review and meta-analysis von Alsaif, Sulaiman S, Kelly, Julia L, Little, Stuart, Pinnock, Hilary, Morrell, Mary J, Polkey, Michael I, Murphie, Phyllis

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Mandibular movement monitor provides faster, yet accurate diagnosis for obstructive sleep apnoea: A randomised controlled study von Alsaif, Sulaiman S., Douglas, Wendy, Steier, Joerg, Morrell, Mary J., Polkey, Michael I., Kelly, Julia L.

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KDM5A mutations identified in autism spectrum disorder using forward genetics von El Hayek, Lauretta, Tuncay, Islam Oguz, Nijem, Nadine, Russell, Jamie, Ludwig, Sara, Kaur, Kiran, Li, Xiaohong, Anderton, Priscilla, Tang, Miao, Gerard, Amanda, Heinze, Anja, Zacher, Pia, Alsaif, Hessa S., Rad, Aboulfazl, Hassanpour, Kazem, Abbaszadegan, Mohammad Reza, Washington, Camerun, DuPont, Barbara R., Louie, Raymond J., Couse, Madeline, Faden, Maha, Rogers, R. Curtis, Abou Jamra, Rami, Elias, Ellen R., Maroofian, Reza, Houlden, Henry, Lehman, Anna, Beutler, Bruce, Chahrour, Maria H.

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Clinical Characteristics and Risk Factors of Neonatal Hypoxic-Ischaemic Encephalopathy and Its Associated Neurodevelopmental Outcomes During the First Two Years of Life: A Retrospe... von AlMuqbil, Mohammed, Alanazi, Jawaher, Alsaif, Nada, Baarmah, Duaa, Altwaijri, Waleed, Alrumayyan, Ahmad, Alrifai, Muhammad Talal, Othman, Fatmah, Al-Shehri, Hassan, Alsaif, Saif

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Prevalence and patterns of sleep-related melatonin usage among adults in Saudi Arabia: A self-reported cross-sectional national study von Alqurashi, Yousef D., Alhaddad, Mohammed, Albahrani, Amar, Alfajri, Ali, Abdulwahab, Ahmed, Albahrani, Hussain, Alhajri, Abdullah, Alshareef, Saad, Alsaif, Sulaiman S., AlHarkan, Khalid, Polkey, Michael I.

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A Deep Learning Fusion Approach to Diagnosis the Polycystic Ovary Syndrome (PCOS) von Alamoudi, Abrar, Khan, Irfan Ullah, Aslam, Nida, Alqahtani, Nourah, Alsaif, Hind S., Al Dandan, Omran, Al Gadeeb, Mohammed, Al Bahrani, Ridha

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Behavior of Lightweight Self-Compacting Concrete with Recycled Tire Steel Fibers von Alabdulkarim, Abdullah, El-Sayed, Ahmed K., Alsaif, Abdulaziz S., Fares, Galal, Alhozaimy, Abdulrahman M.

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Results following implementation of a cardiac surgery ERAS protocol von Obafemi, Tomi, Mullis, Danielle, Bajaj, Simar, Krishna, Purnima, Boyd, Jack

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The effect of coronary revascularization treatment timing on mortality in patients with stable ischemic heart disease in British Columbia von Hardiman, Sean, Fradet, Guy, Kuramoto, Lisa, Law, Michael, Robinson, Simon, Sobolev, Boris

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