Found: 28

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  • 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 UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

    Published in:
    2018
    By:
    • Nahorski, Michael S.;
    • Maddirevula, Sateesh;
    • Ryosuke Ishimura;
    • Alsahli, Saud;
    • Brady, Angela F.;
    • Begemann, Anaïs;
    • Tsunehiro Mizushima;
    • Guzmán-Vega, Francisco J.;
    • Miki Obata;
    • Yoshinobu Ichimura;
    • Alsaif, Hessa S.;
    • Anazi, Shams;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Monies, Dorota;
    • Abouelhoda, Mohamed;
    • Meyer, Brian F.;
    • Alfadhel, Majid;
    • Eyaid, Wafa
    Publication type:
    journal article

  • A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder.

    Published in:
    2017
    By:
    • Shamseldin, Hanan E.;
    • Alasmari, Ali;
    • Salih, Mohammed A.;
    • Samman, Manar M.;
    • Mian, Shahid A.;
    • Alshidi, Tarfa;
    • Ibrahim, Niema;
    • Hashem, Mais;
    • Faqeih, Eissa;
    • Al-Mohanna, Futwan;
    • Alkuraay, Fowzan S.;
    • Alkuraya, Fowzan S
    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

  • Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 6, p. 1013, doi. 10.1002/acn3.51074
    By:
    • Blackburn, Patrick R.;
    • Schultz, Matthew J.;
    • Lahner, Carrie A.;
    • Li, Dong;
    • Bhoj, Elizabeth;
    • Fisher, Laura J.;
    • Renaud, Deborah L.;
    • Kenney, Amy;
    • Ibrahim, Niema;
    • Hashem, Mais;
    • Zain Seidahmed, Mohammed;
    • Hasadsri, Linda;
    • Schrier Vergano, Samantha A.;
    • Alkuraya, Fowzan S.;
    • Lanpher, Brendan C.
    Publication type:
    Article

  • Front Cover.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 3, p. i, doi. 10.1111/cge.13724
    By:
    • Alkuraya, Hisham;
    • Patel, Nisha;
    • Ibrahim, Niema;
    • Al Ghamdi, Bandar;
    • Alsulaiman, Sulaiman M.;
    • Nowilaty, Sawsan R.;
    • Abboud, Emad;
    • Alturki, Ramadan;
    • Alkharashi, Abdullah;
    • Eyaid, Wafaa;
    • Almasseri, Zainab;
    • Alzaidan, Hamad;
    • Alotaibi, Mohammed D.;
    • Abu El‐Asrar, Ahmed M.;
    • Alamro, Bandar;
    • Helaby, Rana;
    • Elshaer, Amani;
    • Almontashiri, Naif A.M.;
    • Al‐Hussaini, Abdulrahman A.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 3, p. 447, doi. 10.1111/cge.13676
    By:
    • Alkuraya, Hisham;
    • Patel, Nisha;
    • Ibrahim, Niema;
    • Al Ghamdi, Bandar;
    • Alsulaiman, Sulaiman M.;
    • Nowilaty, Sawsan R.;
    • Abboud, Emad;
    • Alturki, Ramadan;
    • Alkharashi, Abdullah;
    • Eyaid, Wafaa;
    • Almasseri, Zainab;
    • Alzaidan, Hamad;
    • Alotaibi, Mohammed D.;
    • Abu El‐Asrar, Ahmed M.;
    • Alamro, Bandar;
    • Helaby, Rana;
    • Elshaer, Amani;
    • Almontashiri, Naif A.M.;
    • Al‐Hussaini, Abdulrahman A.;
    • 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

  • A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)- creating mutation.

    Published in:
    Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1274-3
    By:
    • Patel, Nisha;
    • Khan, Arif O.;
    • Al-Saif, Maher;
    • Moghrabi, Walid N.;
    • AlMaarik, Balsam M.;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Alshidi, Tarfa;
    • Alobeid, Eman;
    • Alomar, Rana A.;
    • Al-Harbi, Saad;
    • Abouelhoda, Mohamed;
    • Khabar, Khalid S. A.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.

    Published in:
    Human Genetics, 2020, v. 139, n. 10, p. 1273, doi. 10.1007/s00439-020-02170-2
    By:
    • Shamseldin, Hanan E.;
    • Al Mogarri, Ibrahim;
    • Alqwaiee, Mansour M.;
    • Alharbi, Adel S.;
    • Baqais, Khaled;
    • AlSaadi, Muslim;
    • AlAnzi, Talal;
    • Alhashem, Amal;
    • Saghier, Afaf;
    • Ameen, Waleed;
    • Ibrahim, Niema;
    • Yang, Jason;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Chivukula, Raghu R.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • A genomics approach to females with infertility and recurrent pregnancy loss.

    Published in:
    Human Genetics, 2020, v. 139, n. 5, p. 605, doi. 10.1007/s00439-020-02143-5
    By:
    • Maddirevula, Sateesh;
    • Awartani, Khalid;
    • Coskun, Serdar;
    • AlNaim, Latifa F.;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Alhassan, Saad;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • CNP deficiency causes severe hypomyelinating leukodystrophy in humans.

    Published in:
    Human Genetics, 2020, v. 139, n. 5, p. 615, doi. 10.1007/s00439-020-02144-4
    By:
    • Al-Abdi, Lama;
    • Al Murshedi, Fathiya;
    • Elmanzalawy, Alaa;
    • Al Habsi, Asila;
    • Helaby, Rana;
    • Ganesh, Anuradha;
    • Ibrahim, Niema;
    • Patel, Nisha;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.

    Published in:
    Human Genetics, 2020, v. 139, n. 4, p. 513, doi. 10.1007/s00439-020-02117-7
    By:
    • Seidahmed, Mohammed Zain;
    • Al-Kindi, Adila;
    • Alsaif, Hessa S.;
    • Miqdad, Abeer;
    • Alabbad, Nasser;
    • Alfifi, Abdallah;
    • Abdelbasit, Omer Bashir;
    • Alhussein, Khalid;
    • Alsamadi, Abdulmohsen;
    • Ibrahim, Niema;
    • Al-Futaisi, Amna;
    • Al-Maawali, Almundher;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Congenital glaucoma and CYP1B1: an old story revisited.

    Published in:
    Human Genetics, 2019, v. 138, n. 8/9, p. 1043, doi. 10.1007/s00439-018-1878-z
    By:
    • Alsaif, Hessa S.;
    • Khan, Arif O.;
    • Patel, Nisha;
    • Alkuraya, Hisham;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • Ibrahim, Niema;
    • Aldahmesh, Mohammed A.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • NUP214 deficiency causes severe encephalopathy and microcephaly in humans.

    Published in:
    Human Genetics, 2019, v. 138, n. 3, p. 221, doi. 10.1007/s00439-019-01979-w
    By:
    • Shamseldin, Hanan E.;
    • Makhseed, Nawal;
    • Ibrahim, Niema;
    • Al-Sheddi, Tarfa;
    • Alobeid, Eman;
    • Abdulwahab, Firdous;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Correction to: Expanding the genetic heterogeneity of intellectual disability.

    Published in:
    2018
    By:
    • Anazi, Shams;
    • Maddirevula, Sateesh;
    • Salpietro, Vincenzo;
    • Asi, Yasmine T.;
    • Alsahli, Saud;
    • Alhashem, Amal;
    • Shamseldin, Hanan E.;
    • AlZahrani, Fatema;
    • Patel, Nisha;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous M.;
    • Hashem, Mais;
    • Alhashmi, Nadia;
    • Al Murshedi, Fathiya;
    • Al Kindy, Adila;
    • Alshaer, Ahmad;
    • Rumayyan, Ahmed;
    • Al Tala, Saeed;
    • Kurdi, Wesam;
    • Alsaman, Abdulaziz
    Publication type:
    Correction Notice

  • Expanding the genetic heterogeneity of intellectual disability.

    Published in:
    Human Genetics, 2017, v. 136, n. 11/12, p. 1419, doi. 10.1007/s00439-017-1843-2
    By:
    • Anazi, Shams;
    • Maddirevula, Sateesh;
    • Salpietro, Vincenzo;
    • Asi, Yasmine;
    • Alsahli, Saud;
    • Alhashem, Amal;
    • Shamseldin, Hanan;
    • AlZahrani, Fatema;
    • Patel, Nisha;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Alhashmi, Nadia;
    • Al Murshedi, Fathiya;
    • Al Kindy, Adila;
    • Alshaer, Ahmad;
    • Rumayyan, Ahmed;
    • Al Tala, Saeed;
    • Kurdi, Wesam;
    • Alsaman, Abdulaziz
    Publication type:
    Article

  • Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

    Published in:
    Human Genetics, 2017, v. 136, n. 2, p. 205, doi. 10.1007/s00439-016-1747-6
    By:
    • Patel, Nisha;
    • Anand, Deepti;
    • Monies, Dorota;
    • Maddirevula, Sateesh;
    • Khan, Arif;
    • Algoufi, Talal;
    • Alowain, Mohammed;
    • Faqeih, Eissa;
    • Alshammari, Muneera;
    • Qudair, Ahmed;
    • Alsharif, Hadeel;
    • Aljubran, Fatimah;
    • Alsaif, Hessa;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Alsedairy, Haifa;
    • Aldahmesh, Mohammed;
    • Lachke, Salil;
    • Alkuraya, Fowzan
    Publication type:
    Article

  • A Case of Achondrogenesis Type 2/Hypochondrogenesis Due to a De Novo Mutation in the COL2A1 Gene.

    Published in:
    Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 80
    By:
    • Çatlı, Gönül;
    • Abacı, Ayhan;
    • Anık, Ahmet;
    • Shaneen, Ranad;
    • Tuhan, Hale Ünver;
    • Erçal, Derya;
    • Böber, Ece;
    • Ibrahim, Niema A.;
    • Hashem, Mais O.;
    • Alkuraya, Fowzan Sami
    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

  • Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 14, p. 3042, doi. 10.1093/hmg/ddw157
    By:
    • Palmer, Elizabeth E.;
    • Jarrett, Kelsey E.;
    • Sachdev, Rani K.;
    • Al Zahrani, Fatema;
    • Hashem, Mais Omar;
    • Ibrahim, Niema;
    • Sampaio, Hugo;
    • Kandula, Tejaswi;
    • Macintosh, Rebecca;
    • Gupta, Rajat;
    • Conlon, Donna M.;
    • Billheimer, Jeffrey T.;
    • Rader, Daniel J.;
    • Kouichi Funato;
    • Walkey, Christopher J.;
    • Chang Seok Lee;
    • Loo, Christine;
    • Brammah, Susan;
    • Elakis, George;
    • Ying Zhu
    Publication type:
    Article

  • Identification of a novel MKS locus defined by TMEM107 mutation.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 18, p. 5211, doi. 10.1093/hmg/ddv242
    By:
    • Shaheen, Ranad;
    • Almoisheer, Agaadir;
    • Faqeih, Eissa;
    • Babay, Zainab;
    • Monies, Dorota;
    • Tassan, Nada;
    • Abouelhoda, Mohamed;
    • Kurdi, Wesam;
    • Al Mardawi, Elham;
    • Khalil, Mohamed M. I.;
    • Seidahmed, Mohammed Zain;
    • Alnemer, Maha;
    • Alsahan, Nada;
    • Sogaty, Samira;
    • Alhashem, Amal;
    • Singh, Ankur;
    • Goyal, Manisha;
    • Kapoor, Seema;
    • Alomar, Rana;
    • Ibrahim, Niema
    Publication type:
    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

  • GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition.

    Published in:
    Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-1061-6
    By:
    • Shamseldin, Hanan E.;
    • Masuho, Ikuo;
    • Alenizi, Ahmed;
    • Alyamani, Suad;
    • Patil, Dipak N.;
    • Ibrahim, Niema;
    • Martemyanov, Kirill A.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

    Published in:
    Genome Biology, 2015, v. 16, p. 1, doi. 10.1186/s13059-015-0681-6
    By:
    • Shamseldin, Hanan E.;
    • Tulbah, Maha;
    • Kurdi, Wesam;
    • Nemer, Maha;
    • Alsahan, Nada;
    • Mardawi, Elham Al;
    • Khalifa, Ola;
    • Hashem, Amal;
    • Kurdi, Ahmed;
    • Babay, Zainab;
    • Bubshait, Dalal K.;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Rahbeeni, Zuhair;
    • Hashem, Mais;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 715, doi. 10.1002/ajmg.a.38615
    By:
    • Alrakaf, Laila;
    • Al‐Owain, Mohammed A.;
    • Busehail, Maryam;
    • Alotaibi, Maha A.;
    • Monies, Dorota;
    • Aldhalaan, Hesham M.;
    • Alhashem, Amal;
    • Al‐Hassnan, Zuhair N.;
    • Rahbeeni, Zuhair A.;
    • Murshedi, Fathiya Al;
    • Ani, Nadia Al;
    • Al‐Maawali, Almundher;
    • Ibrahim, Niema A.;
    • Abdulwahab, Firdous M.;
    • Alsagob, Maysoon;
    • Hashem, Mais O.;
    • Ramadan, Wafaa;
    • Abouelhoda, Mohamed;
    • Meyer, Brian F.;
    • Kaya, Namik
    Publication type:
    Article

  • Confirming the candidacy of THOC6 in the etiology of intellectual disability.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1367, doi. 10.1002/ajmg.a.37549
    By:
    • Anazi, Shamsa;
    • Alshammari, Muneera;
    • Moneis, Dorota;
    • Abouelhoda, Mohamed;
    • Ibrahim, Niema;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • A Case of Achondrogenesis Type 2/Hypochondrogenesis Due to a De Novo Mutation in the COL2A1 Gene.

    Published in:
    2015
    By:
    • Çatlı, Gönül;
    • Abacı, Ayhan;
    • Anık, Ahmet;
    • Shaneen, Ranad;
    • Tuhan, Hale Ünver;
    • Erçal, Derya;
    • Böber, Ece;
    • Ibrahim, Niema A.;
    • Hashem, Mais O.;
    • Alkuraya, Fowzan Sami
    Publication type:
    Abstract