Search Results - Saeed Al Tala

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  1. 1
    The landscape of early infantile epileptic encephalopathy in a consanguineous population

    The landscape of early infantile epileptic encephalopathy in a consanguineous population by Marwan Nashabat, Xena Al Qahtani, Salwa Almakdob, Waleed Altwaijri, Duaa Baarmah, Khalid Hundallah, Amal Al Hashem, Saeed Al Tala, Sateesh Maddirevula, Fowzan S. Alkuraya, Brahim Tabarki, Majid Alfadhel

    Published 2019
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  2. 2
    Bi-allelic variants in<i>WDR47</i>lead to neuronal loss causing a rare neurodevelopmental syndrome with corpus callosum dysgenesis in humans

    Bi-allelic variants in<i>WDR47</i>lead to neuronal loss causing a rare neurodevelopmental syndrome with corpus callosum dysgenesis in humans by Efil Bayam, Peggy Tilly, Stephan C. Collins, José Rivera Alvarez, Meghna Kannan, Lucile Tonneau, Bruno Rinaldi, Romain Lecat, Noémie Schwaller, Sateesh Maddirevula, Fabíola Paoli Monteiro, João Paulo Kitajima, Fernando Kok, Mitsuhiro Kato, Ahlam A. Hamed, Mustafa A. Salih, Saeed Al Tala, Mais Hashem, Hiroko Tada, Hirotomo Saitsu, Sylvie Friant, Zafer Yüksel, Mitsuko Nakashima, Fowzan S. Alkuraya, Binnaz Yalcin, Juliette D. Godin

    Published 2023
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  3. 3
    Molecular autopsy in maternal–fetal medicine

    Molecular autopsy in maternal–fetal medicine by Hanan E. Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Zeneb A. Babay, Amal Alhashem, Maha Tulbah, Nada Alsahan, Rubina Khan, Bahauddin Sallout, Elham Al Mardawi, Mohamed Z. Seidahmed, Niema Meriki, Yasser Alsaber, Alya Qari, Ola Khalifa, Wafaa Eyaid, Zuhair Rahbeeni, Ahmed M Kurdi, Mais Hashem, Tarfa Alshidi, Eman Alobeid, Firdous Abdulwahab, Niema Ibrahim, Nour Ewida, Karen El‐Akouri, Mariam Al Mulla, Tawfeg Ben‐Omran, Matthias Pergande, Sebahattin Çırak, Saeed Al Tala, Ranad Shaheen, Eissa Faqeih, Fowzan S. Alkuraya

    Published 2017
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  4. 4
    Characterizing the morbid genome of ciliopathies

    Characterizing the morbid genome of ciliopathies by Ranad Shaheen, Katarzyna Szymańska, Basudha Basu, Nisha Patel, Nour Ewida, Eissa Faqeih, Amal Al Hashem, Nada Derar, Hadeel Alsharif, Mohammed A. Aldahmesh, Anas M. Alazami, Mais Hashem, Niema Ibrahim, Firdous Abdulwahab, Rawda Sonbul, Hisham Alkuraya, Maha Alnemer, Saeed Al Tala, Muneera Al-Husain, Heba Morsy, Mohammed Zain Seidahmed, Neama Meriki, Mohammed Al‐Owain, Saad AlShahwan, Brahim Tabarki, Mustafa A. Salih, Tariq Faquih, Mohamed El-Kalioby, Marius Ueffing, Karsten Boldt, Clare V. Logan, David Parry, Nada Al Tassan, Dorota Monies, André Mégarbané, Mohamed Abouelhoda, Anason Halees, Colin A. Johnson, Fowzan S. Alkuraya

    Published 2016
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  5. 5
    Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

    Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases by Lama AlAbdi, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Bayan Mohammed Aljamal, Mashael Alqahtani, Aisha Almulhim, Halima Hamid, Mais Hashem, Firdous Abdulwahab, Omar Abouyousef, Amal Jaafar, Tarfa Alshidi, Mohammed Al‐Owain, Amal Alhashem, Saeed Al Tala, Arif O. Khan, Elham Al Mardawi, Hisham Alkuraya, Eissa Faqeih, Manal Afqi, Salwa Alkhalifi, Zuhair Rahbeeni, Samya Hagos, Wijdan Al‐Ahmadi, Seba Nadeef, Sateesh Maddirevula, Khalid S.A. Khabar, Alexander Putra, Angel Angelov, Changsook Park, Ana M. Reyes-Ramos, Husen M. Umer, Ikram Ullah, Patrick Driguez, Yoshinori Fukasawa, Ming Sin Cheung, Imed‐Eddine Gallouzi, Fowzan S. Alkuraya

    Published 2023
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  6. 6
    Expanding the genetic heterogeneity of intellectual disability

    Expanding the genetic heterogeneity of intellectual disability by Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, Yasmine T. Asi, Saud Alsahli, Amal Alhashem, Hanan E. Shamseldin, Fatema Alzahrani, Nisha Patel, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Nadia Alhashmi, Fathiya Al Murshedi, Adila Al Kindy, Ahmad Alshaer, Ahmed Al Rumayyan, Saeed Al Tala, Wesam Kurdi, Abdulaziz Alsaman, Ali Alasmari, Selina Banu, Tipu Sultan, Mohammed M. Saleh, Hisham Alkuraya, Mustafa A. Salih, Hesham Aldhalaan, Tawfeg Ben‐Omran, Fatima Al Musafri, Rehab Ali, Jehan Suleiman, Brahim Tabarki, Ayman W. El‐Hattab, Caleb Bupp, Majid Alfadhel, Nada Al Tassan, Dorota Monies, Stefan T. Arold, Mohamed Abouelhoda, Tammaryn Lashley, Henry Houlden, Eissa Faqeih, Fowzan S. Alkuraya

    Published 2017
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  7. 7
    Genomic and phenotypic delineation of congenital microcephaly

    Genomic and phenotypic delineation of congenital microcephaly by Ranad Shaheen, Sateesh Maddirevula, Nour Ewida, Saud Alsahli, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Saeed Al Tala, Amal Alhashem, Ameen Softah, Mohammed Al‐Owain, Anas M. Alazami, Basma Abadel, Nisha Patel, Tarfa Al‐Sheddi, Rana Alomar, Eman Alobeid, Niema Ibrahim, Mais Hashem, Firdous Abdulwahab, Muddathir H. Hamad, Brahim Tabarki, Ali H. Alwadei, Fahad Al-Hazzani, Fahad A. Bashiri, Amal Y. Kentab, Serdar Şahintürk, Elliott H. Sherr, Brieana Fregeau, Samira Sogati, Saad AlShahwan, Salwa Alkhalifi, Zainab Alhumaidi, Samia A. Temtamy, Mona Aglan, Ghada A. Otaify, Katta M. Girisha, Maha Tulbah, Mohammed Zain Seidahmed, Mustafa A. Salih, Mohamed Abouelhoda, Afaque A. Momin, Muna Al Saffar, Jennifer N. Partlow, Stefan T. Arold, Eissa Faqeih, Christopher A. Walsh, Fowzan S. Alkuraya

    Published 2018
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  8. 8
    Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

    Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families by Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin, Shamsa Anazi, Mohammed S. Al‐Dosari, Fatema Alzahrani, Hadia Hijazi, Muneera J. Alshammari, Mohammed A. Aldahmesh, Mustafa A. Salih, Eissa Faqeih, Amal Alhashem, Fahad A. Bashiri, Mohammed Al‐Owain, Amal Y. Kentab, Sameera Sogaty, Saeed Al Tala, Mohamad‐Hani Temsah, Maha Tulbah, Rasha Aljelaify, Saad AlShahwan, Mohammed Zain Seidahmed, Adnan A. Alhadid, Hesham Aldhalaan, Fatema AlQallaf, Wesam Kurdi, Majid Alfadhel, Zainab Babay, Mohammad Alsogheer, Namik Kaya, Zuhair N. Al‐Hassnan, Ghada M. H. Abdel‐Salam, Nouriya Al‐Sannaa, Fuad Al Mutairi, Heba Y. El Khashab, Saeed Bohlega, Xiaofei Jia, Henry C. Nguyen, Rakad Hammami, Nouran Adly, Jawahir Y. Mohamed, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al‐Younes, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Yong Xiong, Mohamed Abouelhoda, Abdulrahman Aldeeri, Dorota Monies, Fowzan S. Alkuraya

    Published 2014
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  9. 9
    Expanding the phenome and variome of skeletal dysplasia

    Expanding the phenome and variome of skeletal dysplasia by Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, Nisha Patel, Fatema Alzahrani, Hanan E. Shamseldin, Shams Anazi, Nour Ewida, Hessa S. Alsaif, Jawahir Y. Mohamed, Anas M. Alazami, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Mohamed Abouelhoda, Dorota Monies, Nada Al Tassan, Muneera J. Alshammari, Afaf Alsagheir, Mohammed Zain Seidahmed, Samira Sogati, Mona Aglan, Muddathir H. Hamad, Mustafa A. Salih, Ahlam A. Hamed, Nadia Alhashmi, Amira Nabil, Fatima Alfadli, Ghada M. H. Abdel‐Salam, Hisham Alkuraya, Winnie Ong Peitee, Wee Teik Keng, Abdullah Qasem, Aziza Mushiba, Maha S. Zaki, Mahmoud R. Fassad, Majid Alfadhel, Saji Alexander, Yasser Sabr, Samia A. Temtamy, Alka V. Ekbote, Samira Ismail, Gamal Ahmed Hosny, Ghada A. Otaify, Khalda Amr, Saeed Al Tala, Arif O. Khan, Tamer Rizk, Aida I. Al‐Aqeel, Abdulmonem Alsiddiky, Ankur Singh, Seema Kapoor, Amal Alhashem, Eissa Faqeih, Ranad Shaheen, Fowzan S. Alkuraya

    Published 2018
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  10. 10
    Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

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

    Published 2017
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  11. 11
    Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

    Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families by Lama AlAbdi, Sateesh Maddirevula, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Halima Hamid, Aisha Almulhim, Mais Hashem, Firdous Abdulwahab, Omar Abouyousef, Mashael Alqahtani, Norah Altuwaijri, Amal Jaafar, Tarfa Alshidi, Fatema Alzahrani, Afaf Alsagheir, Ahmad M. Mansour, Ali Alawaji, Amal Aldhilan, Amal Alhashem, Amal Al‐Hemidan, Amira Nabil, Arif O. Khan, Aziza Aljohar, Badr Alsaleem, Brahim Tabarki, Charles Marques Lourenço, Eissa Faqeih, Essam Al Shail, Fatima Almesaifri, Fuad Al Mutairi, Hamad Alzaidan, Heba Morsy, Hind Alshihry, Hisham Alkuraya, Katta M. Girisha, Khawla Al-Fayez, Khalid Al‐Rubeaan, Lilia Kraoua, Maha Alnemer, Maha Tulbah, Maha S. Zaki, Majid Alfadhel, Mohammed Abouelhoda, Marjan M. Nezarati, Mohammad M. Al‐Qattan, Mohammad Shboul, Mohammed Abanemai, Mohammad A. Al–Muhaizea, Mohammed Al‐Owain, Mohammed Sameer Bafaqeeh, Muneera J. Alshammari, Musaad Abukhalid, Nada Alsahan, Nada Derar, Neama Meriki, Saeed Bohlega, Saeed Al Tala, Saad S. M. Hassan, Sami Wali, Sarar Mohamed, Serdar Coşkun, Sermin Saadeh, Tinatin Tkemaladze, Wesam Kurdi, Zainab Alhumaidi, Zuhair Rahbeeni, Fowzan S. Alkuraya

    Published 2023
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  12. 12
    The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

    The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes by Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, Zuhair N. Al‐Hassnan, Maha Alotaibi, Husam Kayyali, Mohammed Al‐Owain, Ayaz Shah, Zuhair Rahbeeni, Mohammad A. Al–Muhaizea, Hamad Alzaidan, Edward Cupler, Saeed Bohlega, Eissa Faqeih, Maha Faden, Banan Al‐Younes, Dyala Jaroudi, Ewa Goljan, Hadeel Elbardisy, Asma Akilan, Renad Albar, Hesham Aldhalaan, Shamshad Gulab, Aziza Chedrawi, Bandar K. Al Saud, Wesam Kurdi, Nawal Makhseed, Tahani Alqasim, Heba Y. El Khashab, Hamoud Al‐Mousa, Amal Alhashem, Imaduddin Kanaan, Talal Algoufi, Khalid A. Alsaleem, Talal A. Basha, Fathiya Al-Murshedi, Sameena Khan, Adila Al‐Kindy, Maha Alnemer, Sami Al-Hajjar, Suad Alyamani, Hasan Al‐Dhekri, Ali Almehaidib, Rand Arnaout, Omar Dabbagh, Mohammad Shagrani, Dieter Broering, Maha Tulbah, Amal AlQassmi, Maisoon Almugbel, Mohammed Alquaiz, Abdulaziz Alsaman, Khalid Al‐Thihli, Raashda A. Sulaiman, Wajeeh Aldekhail, Abeer Al‐Saegh, Fahad A. Bashiri, Alya Qari, Suzan Alhomadi, Hisham Alkuraya, Mohammed Al‐Sebayel, Muddathir H. Hamad, László Szönyi, Faisal Abaalkhail, Sulaiman M. Al‐Mayouf, Hamad Al‐Mojalli, Khalid Alqadi, Hussien Elsiesy, Taghreed Shuaib, Mohammed Zain Seidahmed, Ibraheem Abosoudah, Hana Akleh, Abdulaziz Al‐Ghonaium, Turki M. Al-Kharfy, Fuad Al Mutairi, Wafa Eyaid, Abdullah Alshanbary, Farrukh Sheikh, Fahad Alsohaibani, Abdullah Alsonbul, Saeed Al Tala, Soher Balkhy, Randa Bassiouni, Ahmed Alenizi, Maged H. Hussein, Saeed Hassan, Mohamed M.I. Khalil, Brahim Tabarki, Saad AlShahwan, Oshi Amira, Yasser Sabr, Saad Alsaadoun, Mustafa A. Salih, Sarar Mohamed, Habiba Sultana, Abdullah Tamim, Moayad El-Haj, Saif Alshahrani, Dalal Bubshait, Majid Alfadhel

    Published 2017
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  13. 13
    Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia

    Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia by Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane Müller, Rolf Stucka, Christian Beetz, Stéphanie Efthymiou, Filippo M. Santorelli, Ahmed Alfares, Changlian Zhu, Anna Uhrová Mészárosová, Elham Alehabib, Somayeh Bakhtiari, Andreas Janecke, María Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M. Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P.C. van de Warrenburg, R Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilgüvar, Sherifa A. Hamed, Mohammed Abdelhameed, Nourelhoda A. Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair T. Pagnamenta, Nicholas Wood, Frédéric Tran Mau‐Them, Tobias B. Haack, Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary Willis, Katheryn Grand, John M. Graham, Richard A. Lewis, Francisca Millan, Özgür Duman, Nihal Olgaç Dündar, Gökhan Uyanık, Lüdger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Català-Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean‐Jacques Médard, Roman Chrast, Michaela Auer‐Grumbach, Fowzan S. Alkuraya, Hanan E. Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C. Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horváth

    Published 2021
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