Integrated Genomic Analysis Identifies ANKRD36 Gene as a Novel and Common Biomarker of Disease Progression in Chronic Myeloid Leukemia

por Iqbal, Zafar, Absar, Muhammad, Akhtar, Tanveer, Aleem, Aamer, Jameel, Abid, Basit, Sulman, Ullah, Anhar, Afzal, Sibtain, Ramzan, Khushnooda, Rasool, Mahmood, Karim, Sajjad, Mirza, Zeenat, Iqbal, Mudassar, AlMajed, Maryam, AlShehab, Buthinah, AlMukhaylid, Sarah, AlMutairi, Nouf, Al-anazi, Nawaf, Sabar, Muhammad Farooq, Arshad, Muhammad, Asif, Muhammad, Shammas, Masood, Mahmood, Amer
Publicado 2021

Home versus Clinic Blood Pressure Monitoring: Evaluating Applicability in Hypertension Management via Telemedicine

por Al-Anazi, Ali F., Gul, Rahim, Al-Harbi, Fahad T., Al-Radhi, Sulaiman A., Al-Harbi, Hamood, Altaher, Altigani, Al-Harbi, Mohammed M., Al-Rashidi, Fahad O., Al-Haweeri, Omer S., Al-Mutairi, Fakhri M., Al-Riyaee, Afyaa A., Al-Hotan, Fai M., Al-Radhi, Alulu A., Al Shehri, Hamdan M., Alharbi, Mohammed S., ALGhasab, Naif Saad
Publicado 2023

Evaluation of the use of methylprednisolone and dexamethasone in asthma critically ill patients with COVID-19: a multicenter cohort study

por Al Sulaiman, Khalid, Aljuhani, Ohoud, Korayem, Ghazwa B., Altebainawi, Ali, Alharbi, Reham, Assadoon, Maha, Vishwakarma, Ramesh, Ismail, Nadia H., Alshehri, Asma A., Al Mutairi, Faisal E., AlFaifi, Mashael, Alharthi, Abdullah F., Alenazi, Abeer A., Alalawi, Mai, Al Zumai, Omar, Al Haji, Hussain, Al Dughaish, Sarah T., Alawaji, Abdulrahman S., Alhaidal, Haifa A., Al Ghamdi, Ghassan
Publicado 2023

Correction: Evaluation of the use of methylprednisolone and dexamethasone in asthma critically ill patients with COVID-19: a multicenter cohort study

por Al Sulaiman, Khalid, Aljuhani, Ohoud, Korayem, Ghazwa B., Altebainawi, Ali F., Alharbi, Reham, Assadoon, Maha, Vishwakarma, Ramesh, Ismail, Nadia H., Alshehri, Asma A., Al Mutairi, Faisal E., AlFaifi, Mashael, Alharthi, Abdullah F., Alenazi, Abeer A., Alalawi, Mai, Al Zumai, Omar, Al Haji, Hussain, Al Dughaish, Sarah T., Alawaji, Abdulrahman S., Alhaidal, Haifa A., Al Ghamdi, Ghassan
Publicado 2023

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations

por Alfares, Ahmed, Alsubaie, Lamia, Aloraini, Taghrid, Alaskar, Aljoharah, Althagafi, Azza, Alahmad, Ahmed, Rashid, Mamoon, Alswaid, Abdulrahman, Alothaim, Ali, Eyaid, Wafaa, Ababneh, Faroug, Albalwi, Mohammed, Alotaibi, Raniah, Almutairi, Mashael, Altharawi, Nouf, Alsamer, Alhanouf, Abdelhakim, Marwa, Kafkas, Senay, Mineta, Katsuhiko, Cheung, Nicole, Abdallah, Abdallah, Büchmann-Møller, Stine, Fukasawa, Yoshinori, Zhao, Xiang, Rajan, Issaac, Hoehndorf, Robert, Al Mutairi, Fuad, Gojobori, Takashi, Alfadhel, Majid
Publicado 2020

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

por Panizzi, Jennifer R., Becker-Heck, Anita, Castleman, Victoria H., Al-Mutairi, Dalal, Liu, Yan, Loges, Niki T., Pathak, Narendra, Austin-Tse, Christina, Sheridan, Eamonn, Schmidts, Miriam, Olbrich, Heike, Werner, Claudius, Häffner, Karsten, Hellman, Nathan, Chodhari, Rahul, Gupta, Amar, Kramer-Zucker, Albrecht, Olale, Felix, Burdine, Rebecca D., Schier, Alexander F., O’Callaghan, Christopher, Chung, Eddie MK, Reinhardt, Richard, Mitchison, Hannah M., King, Stephen M., Omran, Heymut, Drummond, Iain A.
Publicado 2012

Helmet noninvasive ventilation for COVID-19 patients (Helmet-COVID): statistical analysis plan for a randomized controlled trial

por Arabi, Yaseen, Aldekhyl, Sara, Al Qahtani, Saad, Al-Dorzi, Hasan M., Abdukahil, Sheryl Ann, Jose, Jesna, Al Harbi, Mohammad Khulaif, Al Haji, Husain, Al Mutairi, Mohammed, Al Zumai, Omar, Al Qasim, Eman, Al Wehaibi, Wedyan, Alshahrani, Mohammed, Albrahim, Talal, Mady, Ahmed, Al Bshabshe, Ali, Al Aseri, Zohair, Al Duhailib, Zainab, Kharaba, Ayman, Alqahtani, Rakan, Algethamy, Haifa, Alfaris, Omar, Alnafel, Omar, Al-Fares, Abdulrahman A., Tlayjeh, Haytham
Publicado 2022

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

por Alfadhel, Majid, Almuqbil, Mohammed, Al Mutairi, Fuad, Umair, Muhammad, Almannai, Mohammed, Alghamdi, Malak, Althiyab, Hamad, Albarakati, Rayyan, Bashiri, Fahad A., Alshuaibi, Walaa, Ba-Armah, Duaa, Saleh, Mohammed A., Al-Asmari, Ali, Faqeih, Eissa, Altuwaijri, Waleed, Al-Rumayyan, Ahmed, Balwi, Mohammed Ali, Ababneh, Faroug, Alswaid, Abdulrahman Faiz, Eyaid, Wafaa M., Almontashiri, Naif A. M., Alhashem, Amal, Hundallah, Khalid, Bertoli-Avella, Aida, Bauer, Peter, Beetz, Christian, Alrifai, Muhammad Talal, Alfares, Ahmed, Tabarki, Brahim
Publicado 2021

Long-term outcomes of patients with COVID-19 treated with helmet noninvasive ventilation or usual respiratory support: follow-up study of the Helmet-COVID randomized clinical trial

por Arabi, Yaseen M., Al-Dorzi, Hasan M., Aldekhyl, Sara, Al Qahtani, Saad, Abdukahil, Sheryl Ann, Al Qasim, Eman, Al Harbi, Mohammad Khulaif, Kharaba, Ayman, Albrahim, Talal, Alshahrani, Mohammed S., Al-Fares, Abdulrahman A., Al Bshabshe, Ali, Mady, Ahmed, Al Duhailib, Zainab, Algethamy, Haifa, Jose, Jesna, Al Mutairi, Mohammed, Al Zumai, Omar, Al Haji, Hussain, Alaqeily, Ahmed, Al Wehaibi, Wedyan, Al Aseri, Zohair, Al-Omari, Awad, Tlayjeh, Haytham, Al-Dawood, Abdulaziz
Publicado 2023

Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction

por Chan, Rebecca W.Y., Serpas, Lee, Ni, Meng, Volpi, Stefano, Hiraki, Linda T., Tam, Lai-Shan, Rashidfarrokhi, Ali, Wong, Priscilla C.H., Tam, Lydia H.P., Wang, Yueyang, Jiang, Peiyong, Cheng, Alice S.H., Peng, Wenlei, Han, Diana S.C., Tse, Patty P.P., Lau, Pik Ki, Lee, Wing-Shan, Magnasco, Alberto, Buti, Elisa, Sisirak, Vanja, AlMutairi, Nora, Chan, K.C. Allen, Chiu, Rossa W.K., Reizis, Boris, Lo, Y.M. Dennis
Publicado 2020

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update

por Maddirevula, Sateesh, Shamseldin, Hanan E., Sirr, Amy, AlAbdi, Lama, Lo, Russell S., Ewida, Nour, Al-Qahtani, Mashael, Hashem, Mais, Abdulwahab, Firdous, Aboyousef, Omar, Kaya, Namik, Monies, Dorota, Salem, May H., Al Harbi, Naffaa, Aldhalaan, Hesham M., Alzaidan, Hamad, Almanea, Hadeel M., Alsalamah, Abrar K., Al Mutairi, Fuad, Ismail, Samira, Abdel-Salam, Ghada M. H., Alhashem, Amal, Asery, Ali, Faqeih, Eissa, AlQassmi, Amal, Al-Hamoudi, Waleed, Algoufi, Talal, Shagrani, Mohammad, Dudley, Aimée M., Alkuraya, Fowzan S.
Publicado 2020

Heterogeneity of treatment effect of interferon-β1b and lopinavir–ritonavir in patients with Middle East respiratory syndrome by cytokine levels

por Arabi, Yaseen M., Asiri, Ayed Y., Assiri, Abdullah M., Abdullah, Mashan L., Aljami, Haya A., Balkhy, Hanan H., Al Jeraisy, Majed, Mandourah, Yasser, AlJohani, Sameera, Al Harbi, Shmeylan, Jokhdar, Hani A. Aziz, Deeb, Ahmad M., Memish, Ziad A., Jose, Jesna, Ghazal, Sameeh, Al Faraj, Sarah, Al Mekhlafi, Ghaleb A., Sherbeeni, Nisreen Murad, Elzein, Fatehi Elnour, Hayden, Frederick G., Fowler, Robert A., AlMutairi, Badriah M., Al-Dawood, Abdulaziz, Alharbi, Naif Khalaf
Publicado 2022

Type I interferon autoantibodies in hospitalized patients with Middle East respiratory syndrome and association with outcomes and treatment effect of interferon beta‐1b in MIRACLE...

por Alotaibi, Faizah, Alharbi, Naif Khalaf, Rosen, Lindsey B., Asiri, Ayed Y., Assiri, Abdullah M., Balkhy, Hanan H., Al Jeraisy, Majed, Mandourah, Yasser, AlJohani, Sameera, Al Harbi, Shmeylan, Jokhdar, Hani A. Aziz, Deeb, Ahmad M., Memish, Ziad A., Jose, Jesna, Ghazal, Sameeh, Al Faraj, Sarah, Al Mekhlafi, Ghaleb A., Sherbeeni, Nisreen Murad, Elzein, Fatehi Elnour, AlMutairi, Badriah M., Al‐Dawood, Abdulaziz, Abdullah, Mashan L., Barhoumi, Tlili, Alenazi, Mohammed W., Almasood, Abdulrahman, Holland, Steven M., Arabi, Yaseen M.
Publicado 2023

Ketamine administration for acute painful sickle cell crisis: A randomized controlled trial

por Alshahrani, Mohammed S., AlSulaibikh, Amal H., ElTahan, Mohamed R., AlFaraj, Sukayna Z., Asonto, Laila P., AlMulhim, Abdullah A., AlAbbad, Murad F., Almaghraby, Nisreen, AlJumaan, Mohammed A., AlJunaid, Thamir O., Darweesh, Moath N., AlHawaj, Faisal M., Mahmoud, Alaa M., Alossaimi, Bader K., Alotaibi, Shaikhah K., AlMutairi, Talal M., AlSulaiman PharmD, Duaa A., Alfaraj, Dunya, Alhawwas, Reem, Mbuagbaw, Lawrence, Lewis, Kim, Verhovsek, Madeleine, Crowther, Mark, Guyatt, Gordon, Alhazzani, Waleed
Publicado 2021

Study protocol for a randomized, blinded, controlled trial of ketamine for acute painful crisis of sickle cell disease

por Alshahrani, Mohammed S., Asonto, Laila Perlas, El Tahan, Mohamed M., Al Sulaibikh, Amal H., Al Faraj, Sukayna Z., Al Mulhim, Abdullah A., Al Abbad, Murad F., Al Nahhash, Samar A., Aldarweesh, Moath N., Mahmoud, Alaa M., Almaghraby, Nisreen, Al Jumaan, Mohammed A., Al Junaid, Thamir O., Al Hawaj, Faisal M., AlKenany, Samar, ElSayed, Omaima F., Abdelwahab, Haitham M., Moussa, Mohamed M., Alossaimi, Bader K., Alotaibi, Shaikah K., AlMutairi, Talal M., AlSulaiman, Duaa A., Al Shahrani, Saad D., Alfaraj, Donia, Alhazzani, Waleed
Publicado 2019

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

por Bertoli-Avella, Aida M., Beetz, Christian, Ameziane, Najim, Rocha, Maria Eugenia, Guatibonza, Pilar, Pereira, Catarina, Calvo, Maria, Herrera-Ordonez, Natalia, Segura-Castel, Monica, Diego-Alvarez, Dan, Zawada, Michal, Kandaswamy, Krishna K., Werber, Martin, Paknia, Omid, Zielske, Susan, Ugrinovski, Dimitar, Warnack, Gitte, Kampe, Kapil, Iurașcu, Marius-Ionuț, Cozma, Claudia, Vogel, Florian, Alhashem, Amal, Hertecant, Jozef, Al-Shamsi, Aisha M., Alswaid, Abdulrahman Faiz, Eyaid, Wafaa, Al Mutairi, Fuad, Alfares, Ahmed, Albalwi, Mohammed A., Alfadhel, Majid, Al-Sannaa, Nouriya Abbas, Reardon, Willie, Alanay, Yasemin, Rolfs, Arndt, Bauer, Peter
Publicado 2020

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

por Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter
Publicado 2021

Helmet Non-Invasive Ventilation for COVID-19 Patients (Helmet-COVID): study protocol for a multicentre randomised controlled trial

por Arabi, Yaseen M, Tlayjeh, Haytham, Aldekhyl, Sara, Al-Dorzi, Hasan M, Abdukahil, Sheryl Ann, Al Harbi, Mohammad Khulaif, Al Haji, Husain, Al Mutairi, Mohammed, Al Zumai, Omar, Al Qasim, Eman, Al Wehaibi, Wedyan, Al Qahtani, Saad, Al-Hameed, Fahad, Chalabi, Jamal, Alshahrani, Mohammed, Albrahim, Talal, Alharthy, Abdulrahman, Mady, Ahmed, Bin Eshaq, Abdulhadi, Al bshabshe, Ali A, Al Aseri, Zohair, Al Duhailib, Zainab, Kharaba, Ayman, Alqahtani, Rakan, Al Ghamdi, Adnan, Altalag, Ali, Alghamdi, Khalid, Almaani, Mohammed, Algethamy, Haifa, Al Aqeily, Ahmad, Al Baseet, Faisal, Al Samannoudi, Hashem, Al Obaidi, Mohammed, Ismaiel, Yassin T, Al-Fares, Abdulrahman A
Publicado 2021

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

por Maroofian, Reza, Kaiyrzhanov, Rauan, Cali, Elisa, Zamani, Mina, Zaki, Maha S, Ferla, Matteo, Tortora, Domenico, Sadeghian, Saeid, Saadi, Saadia Maryam, Abdullah, Uzma, Karimiani, Ehsan Ghayoor, Efthymiou, Stephanie, Yeşil, Gözde, Alavi, Shahryar, Al Shamsi, Aisha M, Tajsharghi, Homa, Abdel-Hamid, Mohamed S, Saadi, Nebal Waill, Al Mutairi, Fuad, Alabdi, Lama, Beetz, Christian, Ali, Zafar, Toosi, Mehran Beiraghi, Rudnik-Schöneborn, Sabine, Babaei, Meisam, Isohanni, Pirjo, Muhammad, Jameel, Khan, Sheraz, Al Shalan, Maha, Hickey, Scott E, Marom, Daphna, Elhanan, Emil, Kurian, Manju A, Marafi, Dana, Saberi, Alihossein, Hamid, Mohammad, Spaull, Robert, Meng, Linyan, Lalani, Seema, Maqbool, Shazia, Rahman, Fatima, Seeger, Jürgen, Palculict, Timothy Blake, Lau, Tracy, Murphy, David, Mencacci, Niccolo Emanuele, Steindl, Katharina, Begemann, Anais, Rauch, Anita, Akbas, Sinan, Aslanger, Ayça Dilruba, Salpietro, Vincenzo, Yousaf, Hammad, Ben-Shachar, Shay, Ejeskär, Katarina, Al Aqeel, Aida I, High, Frances A, Armstrong-Javors, Amy E, Zahraei, Seyed Mohammadsaleh, Seifi, Tahereh, Zeighami, Jawaher, Shariati, Gholamreza, Sedaghat, Alireza, Asl, Samaneh Noroozi, Shahrooei, Mohmmad, Zifarelli, Giovanni, Burglen, Lydie, Ravelli, Claudia, Zschocke, Johannes, Schatz, Ulrich A, Ghavideldarestani, Maryam, Kamel, Walaa A, Van Esch, Hilde, Hackenberg, Annette, Taylor, Jenny C, Al-Gazali, Lihadh, Bauer, Peter, Gleeson, Joseph J, Alkuraya, Fowzan Sami, Lupski, James R, Galehdari, Hamid, Azizimalamiri, Reza, Chung, Wendy K, Baig, Shahid Mahmood, Houlden, Henry, Severino, Mariasavina
Publicado 2023

Impact of a national collaborative project to improve the care of mechanically ventilated patients

por Arabi, Yaseen M., Al Aseri, Zohair, Alsaawi, Abdulmohsen, Al Khathaami, Ali M., Al Qasim, Eman, Alzahrani, Abdullah A., Al Qarni, Mohammed, Abdukahil, Sheryl Ann I., Al-Dorzi, Hasan M., Alattasi, Abdulaleem, Mandourah, Yasser, Alaama, Tareef Y., Alabdulaali, Mohammed K., Alqahtani, Abdulrahman, Shuaibi, Ahmad, Al Qarni, Ali, Alkatheri, Mufareh, Al Hazme, Raed H., Vishwakarma, Ramesh Kumar, Aldibasi, Omar, Alshahrani, Mohammed Saeed, Attia, Ashraf, Alharthy, Abdulrahman, Mady, Ahmed, Abdelrahman, Basheer Abdullah, Mhawish, Huda Ahmad, Abdallah, Hassan Ahmad, Al-Hameed, Fahad, Alghamdi, Khalid, Alghamdi, Adnan, Almekhlafi, Ghaleb A., Qasim, Saleh Abdorabo Haider, Al Haji, Hussain Ali, Al Mutairi, Mohammed, Tashkandi, Nabiha, Alabbasi, Shatha Othman, Al Shehri, Tariq, Moftah, Emad, Kalantan, Basim, Matroud, Amal, Naidu, Brintha, Al Zayer, Salha, Burrows, Victoria, Said, Zayneb, Soomro, Naseer Ahmed, Yousef, Moawea Hesham, Fattouh, Ayman Abdulmonem, Tahoon, Manar Aboelkhair, Muhammad, Majdi, Alruwili, Afifah Muslim, Al Hanafi, Hossam Ahmed, Dandekar, Pramodini B., Ibrahim, Kamel, AlHomsi, Mwafaq, Al Harbi, Asma Rayan, Saleem, Adel, Masih, Ejaz, Al Rashidi, Nowayer Monawer, Amanatullah, Aslam Khan, Al Mubarak, Jaffar, Al Radwan, Amro Ali Abduljalil, Al Hassan, Ali, Al Muoalad, Sadiyah, Alzahrani, Ammar Abdullah, Chalabi, Jamal, Qureshi, Ahmad, Al Ansari, Maryam, Sallam, Hend, Elhazmi, Alyaa, Alkhaldi, Fawziah, Malibary, Abdulrauf, Ababtain, Abdullah, Latif, Asad, Berenholtz, Sean M.
Publicado 2023