Search Results - Sateesh Maddirevula

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  1. 1
    Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

    Increasing the sensitivity of clinical exome sequencing through improved filtration strategy by Hanan E. Shamseldin, Sateesh Maddirevula, Eissa Faqeih, Niema Ibrahim, Mais Hashem, Ranad Shaheen, Fowzan S. Alkuraya

    Published 2016
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  2. 2
    Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2

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

    Published 2017
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  3. 3
    PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

    PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly by Ranad Shaheen, Monika Tasak, Sateesh Maddirevula, Ghada M. H. Abdel‐Salam, Inas S. M. Sayed, Anas M. Alazami, Tarfa Al‐Sheddi, Eman Alobeid, Eric M. Phizicky, Fowzan S. Alkuraya

    Published 2019
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  4. 4
    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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  5. 5
    Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants

    Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants by Sateesh Maddirevula, Hamoud Alhebbi, Awad Alqahtani, Talal Algoufi, Hessa S. Alsaif, Niema Ibrahim, Firdous Abdulwahab, Mohammed Barr, Hamad Alzaidan, Ali Almehaideb, Omai AlSasi, Amal Alhashem, Hussa Al Hussaini, Sami Wali, Fowzan S. Alkuraya

    Published 2018
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  6. 6
    Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

    Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation by Dorota Monies, Sateesh Maddirevula, Wesam Kurdi, Mohammed H. Alanazy, Hisham Alkhalidi, Mohammed Al‐Owain, Raashda A. Sulaiman, Eissa Faqeih, Ewa Goljan, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Mohamed Abouelhoda, Ranad Shaheen, Stefan T. Arold, Fowzan S. Alkuraya

    Published 2017
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  7. 7
    A genomics approach to male infertility

    A genomics approach to male infertility by Naif Alhathal, Sateesh Maddirevula, Serdar Coşkun, Hamed Alali, Mirna Assoum, T.J. Morris, Hesham A. Deek, Soha A. Hamed, Shaheed Alsuhaibani, Abdulmalik Mirdawi, Nour Ewida, Mashael Alqahtani, Niema Ibrahim, Firdous Abdulwahab, Waleed Altaweel, Majed Dasouki, Abdullah M. Assiri, Wafa Qabbaj, Fowzan S. Alkuraya

    Published 2020
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  8. 8
    Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

    Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract by Nisha Patel, Deepti Anand, Dorota Monies, Sateesh Maddirevula, Arif O. Khan, Talal Algoufi, Mohammed Al‐Owain, Eissa Faqeih, Muneera J. Alshammari, Ahmed Qudair, Hadeel Alsharif, Fatimah Aljubran, Hessa S. Alsaif, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Haifa Alsedairy, Mohammed A. Aldahmesh, Salil A. Lachke, Fowzan S. Alkuraya

    Published 2016
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  9. 9
    Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

    Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development by Michael S. Nahorski, Sateesh Maddirevula, Ryosuke Ishimura, Saud Alsahli, Angela F. Brady, Anaïs Begemann, Tsunehiro Mizushima, Francisco J. Guzmán‐Vega, Miki Obata, Yoshinobu Ichimura, Hessa S. Alsaif, Shams Anazi, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Dorota Monies, Mohamed Abouelhoda, Brian F. Meyer, Majid Alfadhel, Wafa Eyaid, Markus Zweier, Katharina Steindl, Anita Rauch, Stefan T. Arold, C. Geoffrey Woods, Masaaki Komatsu, Fowzan S. Alkuraya

    Published 2018
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  10. 10
    Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

    Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics by Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, Hanan E. Shamseldin, Nisha Patel, Fatema Alzahrani, Tarfa Al‐Sheddi, Eman Alobeid, Mona Alenazi, Hessa S. Alsaif, Maha Alqahtani, Maha AlAli, Hatoon Al Ali, Rana Helaby, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Nadine Hanna, Dorota Monies, Nada Derar, Afaf Alsagheir, Amal Alhashem, Badr Alsaleem, Hamoud Alhebbi, Sami Wali, Ramzan Umarov, Xin Gao, Fowzan S. Alkuraya

    Published 2020
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  11. 11
    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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  12. 12
    Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

    Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish by Julie C. Van De Weghe, Tamara D. S. Rusterholz, Brooke Latour, Megan E. Grout, Kimberly A. Aldinger, Ranad Shaheen, Jennifer C. Dempsey, Sateesh Maddirevula, Yong-Han Hank Cheng, Ian G. Phelps, Matthias Gesemann, Himanshu Goel, Ohad S. Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O. Khan, Michael J. Bamshad, Deborah A. Nickerson, Stephan C. F. Neuhauss, William B. Dobyns, Fowzan S. Alkuraya, Ronald Roepman, Ruxandra Bachmann‐Gagescu, Dan Doherty

    Published 2017
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  13. 13
    Primate-specific ZNF808 is essential for pancreatic development in humans

    Primate-specific ZNF808 is essential for pancreatic development in humans by Elisa De Franco, Nick Owens, Hossam Montaser, Matthew N. Wakeling, Jonna Saarimäki‐Vire, Athina Triantou, Hazem Ibrahim, Diego Balboa, Richard Caswell, Rachel Jennings, Jouni Kvist, Matthew B. Johnson, Sachin Muralidharan, Sian Ellard, Caroline F. Wright, Sateesh Maddirevula, Fowzan S. Alkuraya, Wafaa Laimon, Samar S. Hassan, Mohamed Ahmed Abdullah, Anders Fritzberg, Emma Wakeling, Nisha Nathwani, Nancy Samir Elbarbary, Amani Osman, Hessa Alkandari, Abeer Al-Tararwa, Abdelhadi Habeb, Abdulmoein Eid Al-Agha, Ihab Abdulhamed Ahmad, Majida Noori Nasaif Aldulaimi, Ala Üstyol, Hiba Mohammed Amin Binomar, Mohammad Shagrani, Neil A. Hanley, Sarah E. Flanagan, Timo Otonkoski, Andrew T. Hattersley, Michaël Imbeault

    Published 2023
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  14. 14
    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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  15. 15
    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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  16. 16
    The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

    The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources by Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin‐Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew E. Hurles, S. E. A. Leigh, Ivone Leong, Sateesh Maddirevula, Christa Lese Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, Thabo M. Yates, Heidi L. Rehm

    Published 2022
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  17. 17
    Autozygome and high throughput confirmation of disease genes candidacy

    Autozygome and high throughput confirmation of disease genes candidacy by Sateesh Maddirevula, Fatema Alzahrani, Mohammed Al‐Owain, Mohammad A. Al Muhaizea, Husam Kayyali, Amal Alhashem, Zuhair Rahbeeni, Maha Alotaibi, Hamad Alzaidan, Ameera Balobaid, Heba Y. El Khashab, Dalal Bubshait, Maha Faden, Suad Al Yamani, Omar Dabbagh, Mariam Almureikhi, Abdulla Al Jasser, Hessa S. Alsaif, Iram Alluhaydan, Mohammed Zain Seidahmed, Bashair Alabbasi, Ibrahim Al‐Mogarri, Wesam Kurdi, Hana Akleh, Alya Qari, Saeed M. Al Tala, Suzan Alhomaidi, Amal Y. Kentab, Mustafa A. Salih, Aziza Chedrawi, Seham Alameer, Brahim Tabarki, Hanan E. Shamseldin, Nisha Patel, Niema Ibrahim, Firdous Abdulwahab, Menasria Samira, Ewa Goljan, Mohamed Abouelhoda, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Saad AlShahwan, Majid Alfadhel, Tawfeg Ben‐Omran, Mohammad M. Al‐Qattan, Dorota Monies, Fowzan S. Alkuraya

    Published 2018
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  18. 18
    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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  19. 19
    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy by Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan Ghayoor Karimiani, Anna‐Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrósio Fock, Christian Beetz, Claudia Ruivenkamp, Alison Eaton, Francois D Morneau-Jacob, Lena Sagi‐Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad‐Halloun, D.J. Kamphuis, Cacha Peeters‐Scholte, Semra Hız Kurul, Rita Horváth, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M. Muir, Abolfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna Povolotskaya, V. Yu. Voinova, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Fowzan S. Alkuraya, Heather C. Mefford, Majid Alfadhel, Tobias B. Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst‐Hofstee, Henry Houlden

    Published 2022
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  20. 20
    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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