Found: 13

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  • Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant.

    Published in:
    2022
    By:
    • Maddirevula, Sateesh;
    • Alameer, Seham;
    • Ewida, Nour;
    • de Sousa, Mirta Mittelstedt Leal;
    • Bjørås, Magnar;
    • Vågbø, Cathrine Broberg;
    • Alkuraya, Fowzan S
    Publication type:
    Case Study

  • PLXNA2 as a candidate gene in patients with intellectual disability.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3859, doi. 10.1002/ajmg.a.62440
    By:
    • Altuame, Fadie D.;
    • Shamseldin, Hanan E.;
    • Albatti, Turki H.;
    • Hashem, Mais;
    • Ewida, Nour;
    • Abdulwahab, Firdous;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

    Published in:
    Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00973-0
    By:
    • Shamseldin, Hanan E.;
    • AlAbdi, Lama;
    • Maddirevula, Sateesh;
    • Alsaif, Hessa S.;
    • Alzahrani, Fatema;
    • Ewida, Nour;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • Abuyousef, Omar;
    • Kuwahara, Hiroyuki;
    • Gao, Xin;
    • Molecular Autopsy Consortium;
    • Aldhalaan, Hesham;
    • Alfaifi, Abdullah;
    • Alhashem, Amal;
    • Alhasan, Khalid;
    • Alnemer, Maha;
    • Alsahan, Nada;
    • Alyamani, Suad;
    • Alzaidan, Hamad
    Publication type:
    Article

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

    Published in:
    Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.580484
    By:
    • 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
    Publication type:
    Article

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

    Published in:
    Genome Biology, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s13059-020-02053-9
    By:
    • 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
    Publication type:
    Article

  • Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34.

    Published in:
    Human Mutation, 2019, v. 40, n. 11, p. 2108, doi. 10.1002/humu.23870
    By:
    • Shaheen, Ranad;
    • Mark, Paul;
    • Prevost, Christopher T.;
    • AlKindi, Adila;
    • Alhag, Ahmad;
    • Estwani, Fatima;
    • Al‐Sheddi, Tarfa;
    • Alobeid, Eman;
    • Alenazi, Mona M.;
    • Ewida, Nour;
    • Ibrahim, Niema;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • Bryant, Emily M.;
    • Spinelli, Egidio;
    • Millichap, John;
    • Barnett, Sarah S.;
    • Kearney, Hutton M.;
    • Accogli, Andrea;
    • Scala, Marcello
    Publication type:
    Article

  • Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1053, doi. 10.1002/ajmg.a.61133
    By:
    • Abdel‐Salam, Ghada M. H.;
    • Mazen, Inas;
    • Eid, Maha;
    • Ewida, Nour;
    • Shaheen, Ranad;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 2, p. 310, doi. 10.1111/cge.13481
    By:
    • Alshenaifi, Jumanah;
    • Ewida, Nour;
    • Anazi, Shams;
    • Shamseldin, Hanan E.;
    • Patel, Nisha;
    • Maddirevula, Sateesh;
    • Al‐Sheddi, Tarfa;
    • Alomar, Rana;
    • Alobeid, Eman;
    • Ibrahim, Niema;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • Jacob, Minnie;
    • Alhashem, Amal;
    • Alzaidan, Hamad I.;
    • Seidahmed, Mohammed Z.;
    • Alhashemi, Nadia;
    • Rawashdeh, Rifaat;
    • Eyaid, Wafaa;
    • Al‐Hassnan, Zuhair N.
    Publication type:
    Article

  • Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.

    Published in:
    2017
    By:
    • Moawia, Abubakar;
    • Shaheen, Ranad;
    • Rasool, Sajida;
    • Waseem, Syeda Seema;
    • Ewida, Nour;
    • Budde, Birgit;
    • Kawalia, Amit;
    • Motameny, Susanne;
    • Khan, Kamal;
    • Fatima, Ambrin;
    • Jameel, Muhammad;
    • Ullah, Farid;
    • Akram, Talia;
    • Ali, Zafar;
    • Abdullah, Uzma;
    • Irshad, Saba;
    • Höhne, Wolfgang;
    • Noegel, Angelika Anna;
    • Al‐Owain, Mohammed;
    • Hörtnagel, Konstanze
    Publication type:
    journal article

  • The genetic landscape of familial congenital hydrocephalus.

    Published in:
    2017
    By:
    • Shaheen, Ranad;
    • Sebai, Mohammed Adeeb;
    • Patel, Nisha;
    • Ewida, Nour;
    • Kurdi, Wesam;
    • Altweijri, Ikhlass;
    • Sogaty, Sameera;
    • Almardawi, Elham;
    • Seidahmed, Mohammed Zain;
    • Alnemri, Abdulrahman;
    • Madirevula, Sateesh;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Al‐Sheddi, Tarfa;
    • Alomar, Rana;
    • Alobeid, Eman;
    • Sallout, Bahauddin;
    • AlBaqawi, Badi;
    • AlAali, Wajeih
    Publication type:
    journal article

  • Characterizing the morbid genome of ciliopathies.

    Published in:
    Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-1099-5
    By:
    • Shaheen, Ranad;
    • Katarzyna Szymanska;
    • Basu, Basudha;
    • Patel, Nisha;
    • Ewida, Nour;
    • Faqeih, Eissa;
    • Hashem, Amal Al;
    • Derar, Nada;
    • Alsharif, Hadeel;
    • Aldahmesh, Mohammed A.;
    • Alazami, Anas M.;
    • Hashem, Mais;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous M.;
    • Sonbul, Rawda;
    • Hisham Alkuraya;
    • Alnemer, Maha;
    • Tala, Saeed Al;
    • Al-Husain, Muneera;
    • Morsy, Heba
    Publication type:
    Article

  • Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.

    Published in:
    Human Genetics, 2016, v. 135, n. 10, p. 1191, doi. 10.1007/s00439-016-1722-2
    By:
    • Shaheen, Ranad;
    • Hashem, Amal;
    • Abdel-Salam, Ghada;
    • Al-Fadhli, Fatima;
    • Ewida, Nour;
    • Alkuraya, Fowzan
    Publication type:
    Article

  • A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.

    Published in:
    Human Genetics, 2016, v. 135, n. 7, p. 707, doi. 10.1007/s00439-016-1665-7
    By:
    • Shaheen, Ranad;
    • Han, Lu;
    • Faqeih, Eissa;
    • Ewida, Nour;
    • Alobeid, Eman;
    • Phizicky, Eric;
    • Alkuraya, Fowzan
    Publication type:
    Article