LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 2 of total 2

Search options

  1. Article ; Online: Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

    Monies, Dorota / Abouelhoda, Mohammed / Assoum, Mirna / Moghrabi, Nabil / Rafiullah, Rafiullah / Almontashiri, Naif / Alowain, Mohammed / Alzaidan, Hamad / Alsayed, Moeen / Subhani, Shazia / Cupler, Edward / Faden, Maha / Alhashem, Amal / Qari, Alya / Chedrawi, Aziza / Aldhalaan, Hisham / Kurdi, Wesam / Khan, Sameena / Rahbeeni, Zuhair /
    Alotaibi, Maha / Goljan, Ewa / Elbardisy, Hadeel / ElKalioby, Mohamed / Shah, Zeeshan / Alruwaili, Hibah / Jaafar, Amal / Albar, Ranad / Akilan, Asma / Tayeb, Hamsa / Tahir, Asma / Fawzy, Mohammed / Nasr, Mohammed / Makki, Shaza / Alfaifi, Abdullah / Akleh, Hanna / Yamani, Suad / Bubshait, Dalal / Mahnashi, Mohammed / Basha, Talal / Alsagheir, Afaf / Khaled, Musad Abu / Alsaleem, Khalid / Almugbel, Maisoon / Badawi, Manal / Bashiri, Fahad / Bohlega, Saeed / Sulaiman, Raashida / Tous, Ehab / Ahmed, Syed / Algoufi, Talal / Al-Mousa, Hamoud / Alaki, Emadia / Alhumaidi, Susan / Alghamdi, Hadeel / Alghamdi, Malak / Sahly, Ahmed / Nahrir, Shapar / Al-Ahmari, Ali / Alkuraya, Hisham / Almehaidib, Ali / Abanemai, Mohammed / Alsohaibaini, Fahad / Alsaud, Bandar / Arnaout, Rand / Abdel-Salam, Ghada M H / Aldhekri, Hasan / AlKhater, Suzan / Alqadi, Khalid / Alsabban, Essam / Alshareef, Turki / Awartani, Khalid / Banjar, Hanaa / Alsahan, Nada / Abosoudah, Ibraheem / Alashwal, Abdullah / Aldekhail, Wajeeh / Alhajjar, Sami / Al-Mayouf, Sulaiman / Alsemari, Abdulaziz / Alshuaibi, Walaa / Altala, Saeed / Altalhi, Abdulhadi / Baz, Salah / Hamad, Muddathir / Abalkhail, Tariq / Alenazi, Badi / Alkaff, Alya / Almohareb, Fahad / Al Mutairi, Fuad / Alsaleh, Mona / Alsonbul, Abdullah / Alzelaye, Somaya / Bahzad, Shakir / Manee, Abdulaziz Bin / Jarrad, Ola / Meriki, Neama / Albeirouti, Bassem / Alqasmi, Amal / AlBalwi, Mohammed / Makhseed, Nawal / Hassan, Saeed / Salih, Isam / Salih, Mustafa A / Shaheen, Marwan / Sermin, Saadeh / Shahrukh, Shamsad / Hashmi, Shahrukh / Shawli, Ayman / Tajuddin, Ameen / Tamim, Abdullah / Alnahari, Ahmed / Ghemlas, Ibrahim / Hussein, Maged / Wali, Sami / Murad, Hatem / Meyer, Brian F / Alkuraya, Fowzan S

    American journal of human genetics

    2019  Volume 105, Issue 4, Page(s) 879

    Language English
    Publishing date 2019-10-04
    Publishing country United States
    Document type Published Erratum
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2019.09.019
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 107: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

    Monies, Dorota / Abouelhoda, Mohammed / Assoum, Mirna / Moghrabi, Nabil / Rafiullah, Rafiullah / Almontashiri, Naif / Alowain, Mohammed / Alzaidan, Hamad / Alsayed, Moeen / Subhani, Shazia / Cupler, Edward / Faden, Maha / Alhashem, Amal / Qari, Alya / Chedrawi, Aziza / Aldhalaan, Hisham / Kurdi, Wesam / Khan, Sameena / Rahbeeni, Zuhair /
    Alotaibi, Maha / Goljan, Ewa / Elbardisy, Hadeel / ElKalioby, Mohamed / Shah, Zeeshan / Alruwaili, Hibah / Jaafar, Amal / Albar, Ranad / Akilan, Asma / Tayeb, Hamsa / Tahir, Asma / Fawzy, Mohammed / Nasr, Mohammed / Makki, Shaza / Alfaifi, Abdullah / Akleh, Hanna / Yamani, Suad / Bubshait, Dalal / Mahnashi, Mohammed / Basha, Talal / Alsagheir, Afaf / Abu Khaled, Musad / Alsaleem, Khalid / Almugbel, Maisoon / Badawi, Manal / Bashiri, Fahad / Bohlega, Saeed / Sulaiman, Raashida / Tous, Ehab / Ahmed, Syed / Algoufi, Talal / Al-Mousa, Hamoud / Alaki, Emadia / Alhumaidi, Susan / Alghamdi, Hadeel / Alghamdi, Malak / Sahly, Ahmed / Nahrir, Shapar / Al-Ahmari, Ali / Alkuraya, Hisham / Almehaidib, Ali / Abanemai, Mohammed / Alsohaibaini, Fahad / Alsaud, Bandar / Arnaout, Rand / Abdel-Salam, Ghada M H / Aldhekri, Hasan / AlKhater, Suzan / Alqadi, Khalid / Alsabban, Essam / Alshareef, Turki / Awartani, Khalid / Banjar, Hanaa / Alsahan, Nada / Abosoudah, Ibraheem / Alashwal, Abdullah / Aldekhail, Wajeeh / Alhajjar, Sami / Al-Mayouf, Sulaiman / Alsemari, Abdulaziz / Alshuaibi, Walaa / Altala, Saeed / Altalhi, Abdulhadi / Baz, Salah / Hamad, Muddathir / Abalkhail, Tariq / Alenazi, Badi / Alkaff, Alya / Almohareb, Fahad / Al Mutairi, Fuad / Alsaleh, Mona / Alsonbul, Abdullah / Alzelaye, Somaya / Bahzad, Shakir / Manee, Abdulaziz Bin / Jarrad, Ola / Meriki, Neama / Albeirouti, Bassem / Alqasmi, Amal / AlBalwi, Mohammed / Makhseed, Nawal / Hassan, Saeed / Salih, Isam / Salih, Mustafa A / Shaheen, Marwan / Sermin, Saadeh / Shahrukh, Shamsad / Hashmi, Shahrukh / Shawli, Ayman / Tajuddin, Ameen / Tamim, Abdullah / Alnahari, Ahmed / Ghemlas, Ibrahim / Hussein, Maged / Wali, Sami / Murad, Hatem / Meyer, Brian F / Alkuraya, Fowzan S

    American journal of human genetics

    2019  Volume 104, Issue 6, Page(s) 1182–1201

    Abstract: We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we ... ...

    Abstract We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we propose to be recessive, disease-related candidates. We report additional mutational events in 64 previously reported candidates (40 recessive), and these events support their candidacy. We report recessive forms of genes that were previously associated only with dominant disorders and that have phenotypes ranging from consistent with to conspicuously distinct from the known dominant phenotypes. We also report homozygous loss-of-function events that can inform the genetics of complex diseases. We were also able to deduce the likely causal variant in most couples who presented after the loss of one or more children, but we lack samples from those children. Although a similar pattern of mostly recessive causes was observed in the prenatal setting, the higher proportion of loss-of-function events in these cases was notable. The allelic series presented by the wealth of recessive variants greatly expanded the phenotypic expression of the respective genes. We also make important observations about dominant disorders; these observations include the pattern of de novo variants, the identification of 74 candidate dominant, disease-related genes, and the potential confirmation of 21 previously reported candidates. Finally, we describe the influence of a predominantly autosomal-recessive landscape on the clinical utility of rapid sequencing (Flash Exome). Our cohort's genotypic and phenotypic data represent a unique resource that can contribute to improved variant interpretation through data sharing.
    MeSH term(s) Child ; Cohort Studies ; Consanguinity ; Female ; Genes, Recessive ; Genetic Diseases, X-Linked/epidemiology ; Genetic Diseases, X-Linked/genetics ; Genetic Predisposition to Disease ; Homozygote ; Humans ; Male ; Mutation ; Phenotype ; Pregnancy ; Saudi Arabia/epidemiology ; Whole Exome Sequencing/methods
    Language English
    Publishing date 2019-05-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2019.04.011
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 107: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top