Found: 26

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  • A founder variant expands the phenotype of WNT7B‐related PDAC syndrome.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 1, p. 66, doi. 10.1111/cge.14512
    By:
    • AlAbdi, Lama;
    • Rahbeeni, Zuhair;
    • Maddirevula, Sateesh;
    • Helaby, Rana;
    • Abdulwahab, Firdous;
    • Khan, Arif O.;
    • Riley, Lisa G.;
    • Alhashem, Amal;
    • Chassaing, Nicolas;
    • Jamieson, Robyn V.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia.

    Published in:
    Human Genetics, 2024, v. 143, n. 2, p. 125, doi. 10.1007/s00439-023-02628-z
    By:
    • Abouelhoda, Mohamed;
    • Almuqati, Noura;
    • Abogosh, Ahmed;
    • Alfraih, Feras;
    • Maddirevula, Sateesh;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction.

    Published in:
    Prenatal Diagnosis, 2024, v. 44, n. 2, p. 196, doi. 10.1002/pd.6425
    By:
    • Brar, Bobby K.;
    • Blakemore, Karin;
    • Hertenstein, Christine;
    • Miller, Jena L.;
    • Miller, Kristen A.;
    • Shamseldin, Hanan;
    • Maddirevula, Sateesh;
    • Hays, Thomas;
    • Lianoglou, Billie;
    • Dukhovny, Stephanie;
    • Baker, Linda A.;
    • Sparks, Teresa N.;
    • Wapner, Ronald;
    • Alkuraya, Fowzan S.;
    • Norton, Mary E.;
    • Jelin, Angie C.
    Publication type:
    Article

  • Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40909-3
    By:
    • AlAbdi, Lama;
    • Maddirevula, Sateesh;
    • Shamseldin, Hanan E.;
    • Khouj, Ebtissal;
    • Helaby, Rana;
    • Hamid, Halima;
    • Almulhim, Aisha;
    • Hashem, Mais O.;
    • Abdulwahab, Firdous;
    • Abouyousef, Omar;
    • Alqahtani, Mashael;
    • Altuwaijri, Norah;
    • Jaafar, Amal;
    • Alshidi, Tarfa;
    • Alzahrani, Fatema;
    • Al-Sagheir, Afaf I.;
    • Mansour, Ahmad M.;
    • Alawaji, Ali;
    • Aldhilan, Amal;
    • Alhashem, Amal
    Publication type:
    Article

  • KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.

    Published in:
    Human Genetics, 2023, v. 142, n. 3, p. 399, doi. 10.1007/s00439-022-02513-1
    By:
    • Almannai, Mohammed;
    • AlAbdi, Lama;
    • Maddirevula, Sateesh;
    • Alotaibi, Maha;
    • Alsaleem, Badr M.;
    • Aljadhai, Yaser I.;
    • Alsaif, Hessa S.;
    • Abukhalid, Musaad;
    • Alkuraya, Fowzan S
    Publication type:
    Article

  • ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 8, p. 1276, doi. 10.1002/acn3.51629
    By:
    • Thomas, Ajay X.;
    • Link, Nichole;
    • Robak, Laurie A.;
    • Demmler‐Harrison, Gail;
    • Pao, Emily C.;
    • Squire, Audrey E.;
    • Michels, Savannah;
    • Cohen, Julie S.;
    • Comi, Anne;
    • Prontera, Paolo;
    • Verrotti di Pianella, Alberto;
    • Di Cara, Giuseppe;
    • Garavelli, Livia;
    • Caraffi, Stefano Giuseppe;
    • Fusco, Carlo;
    • Zuntini, Roberta;
    • Parks, Kendall C.;
    • Sherr, Elliott H.;
    • Hashem, Mais O.;
    • Maddirevula, Sateesh
    Publication type:
    Article

  • Recurrent spontaneous oocyte activation causes female infertility.

    Published in:
    Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 3, p. 675, doi. 10.1007/s10815-022-02435-x
    By:
    • Coskun, Serdar;
    • Maddirevula, Sateesh;
    • Awartani, Khalid;
    • Aldeery, Meshael;
    • Qubbaj, Wafa;
    • Kashir, Junaid;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • 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

  • ASTL is mutated in female infertility.

    Published in:
    Human Genetics, 2022, v. 141, n. 1, p. 49, doi. 10.1007/s00439-021-02388-8
    By:
    • Maddirevula, Sateesh;
    • Coskun, Serdar;
    • Al-Qahtani, Mashael;
    • Aboyousef, Omar;
    • Alhassan, Saad;
    • Aldeery, Meshael;
    • 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

  • Confirming the involvement of PIEZO2 in the etiology of Marden–Walker syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 945, doi. 10.1002/ajmg.a.62052
    By:
    • Seidahmed, Mohammed Zain;
    • Maddirevula, Sateesh;
    • Miqdad, Abeer M.;
    • Al Faifi, Abdullah;
    • Al Samadi, Abdulmohsen;
    • Alkuraya, Fowzan S.
    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

  • Further delineation of HIDEA syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2999, doi. 10.1002/ajmg.a.61885
    By:
    • Maddirevula, Sateesh;
    • Ben‐Omran, Tawfeg;
    • AlMureikhi, Mariam;
    • Eyaid, Wafa;
    • Arabi, Hisham;
    • Alkuraya, Hisham;
    • Alfaifi, Abdullah;
    • Alfalah, Abdullah Hamed;
    • Alsaif, Hessa S.;
    • Abdulwahab, Firdous;
    • Alfadhel, Majid;
    • Alkuraya, Fowzan S.
    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

  • 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

  • Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

    Published in:
    2019
    By:
    • Efthymiou, Stephanie;
    • Salpietro, Vincenzo;
    • Malintan, Nancy;
    • Poncelet, Mallory;
    • Kriouile, Yamna;
    • Fortuna, Sara;
    • Zorzi, Rita De;
    • Payne, Katelyn;
    • Henderson, Lindsay B;
    • Cortese, Andrea;
    • Maddirevula, Sateesh;
    • Alhashmi, Nadia;
    • Wiethoff, Sarah;
    • Ryten, Mina;
    • Botia, Juan A;
    • Provitera, Vincenzo;
    • Schuelke, Markus;
    • Vandrovcova, Jana;
    • Group, SYNAPS Study;
    • Walsh, Laurence
    Publication type:
    journal article

  • PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.

    Published in:
    Human Genetics, 2019, v. 138, n. 3, p. 231, doi. 10.1007/s00439-019-01980-3
    By:
    • Shaheen, Ranad;
    • Tasak, Monika;
    • Maddirevula, Sateesh;
    • Abdel-Salam, Ghada M. H.;
    • Sayed, Inas S. M.;
    • Alazami, Anas M.;
    • Al-Sheddi, Tarfa;
    • Alobeid, Eman;
    • Phizicky, Eric M.;
    • 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 ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension.

    Published in:
    Human Genetics, 2019, v. 138, n. 1, p. 105, doi. 10.1007/s00439-018-1963-3
    By:
    • Alazami, Anas M.;
    • Maddirevula, Sateesh;
    • Alkuraya, Fowzan S.;
    • Seidahmed, Mohamed Zain;
    • Albhlal, Lulu A.
    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

  • 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

  • Joint Laxity in Homozygotes for Severe POU1F1 Mutations.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3356, doi. 10.1002/ajmg.a.37941
    By:
    • Shamseldin, Hanan E.;
    • Maddirevula, Sateesh;
    • Nabil, Amira;
    • Al‐Fadhil, Saeed;
    • Al Tala, Saeed;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Crisponi/CISS1 syndrome: A case series.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1236, doi. 10.1002/ajmg.a.37569
    By:
    • Alhashem, Amal M.;
    • Majeed–Saidan, Muhammad Ali;
    • Ammari, Amer N.;
    • Alrakaf, Maha S.;
    • Nojoom, Maha;
    • Maddirevula, Sateesh;
    • Faqeih, Eissa;
    • Alkuraya, Fowzan S.;
    • Garne, Ester;
    • Kurdi, Ahmad M.
    Publication type:
    Article

  • Trb3 Regulates LR Axis formation in zebrafish embryos.

    Published in:
    Molecules & Cells (Springer Science & Business Media B.V.), 2013, v. 36, n. 6, p. 542, doi. 10.1007/s10059-013-0237-0
    By:
    • Anuppalle, Mrudhula;
    • Maddirevula, Sateesh;
    • Huh, Tae-Lin;
    • Rhee, Myungchull
    Publication type:
    Article