Found: 35

Select item for more details and to access through your institution.

  • 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

  • Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.

    Published in:
    Human Genetics, 2024, v. 143, n. 6, p. 739, doi. 10.1007/s00439-024-02677-y
    By:
    • AlAbdi, Lama;
    • Neuhann, Teresa;
    • Prott, Eva-Christina;
    • Schön, Ulrike;
    • Abdulwahab, Firdous;
    • Faqeih, Eissa;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Further delineation of the phenotypic and metabolomic profile of ALDH1L2‐related neurodevelopmental disorder.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 5, p. 488, doi. 10.1111/cge.14479
    By:
    • You, Mikyoung;
    • Shamseldin, Hanan E.;
    • Fogle, Halle M.;
    • Rushing, Blake R.;
    • AlMalki, Reem H.;
    • Jaafar, Amal;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • Abdel Rahman, Anas M.;
    • Krupenko, Natalia I.;
    • Alkuraya, Fowzan S.;
    • Krupenko, Sergey A.
    Publication type:
    Article

  • Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution.

    Published in:
    Human Genetics, 2024, v. 143, n. 1, p. 59, doi. 10.1007/s00439-023-02621-6
    By:
    • Alshammari, Muneera J.;
    • Shamseldin, Hanan E.;
    • Essbaiheen, Fahad;
    • Eltahir, Sara H.;
    • Alruwaili, Ashwag R.;
    • Abdulwahab, Firdous;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01270-8
    By:
    • AlAbdi, Lama;
    • Shamseldin, Hanan E.;
    • Khouj, Ebtissal;
    • Helaby, Rana;
    • Aljamal, Bayan;
    • Alqahtani, Mashael;
    • Almulhim, Aisha;
    • Hamid, Halima;
    • Hashem, Mais O.;
    • Abdulwahab, Firdous;
    • Abouyousef, Omar;
    • Jaafar, Amal;
    • Alshidi, Tarfa;
    • Al-Owain, Mohammed;
    • Alhashem, Amal;
    • Al Tala, Saeed;
    • Khan, Arif O.;
    • Mardawi, Elham;
    • Alkuraya, Hisham;
    • Faqeih, Eissa
    Publication type:
    Article

  • Human 'knockouts' of CSF3 display severe congenital neutropenia.

    Published in:
    British Journal of Haematology, 2023, v. 203, n. 3, p. 477, doi. 10.1111/bjh.19054
    By:
    • Khouj, Ebtissal;
    • Marafi, Dana;
    • Aljamal, Bayan;
    • Hajiya, Anwar;
    • Elshafie, Reem M.;
    • Hashem, Mais O.;
    • Abdulwahab, Firdous;
    • Jaafar, Amal;
    • Alshidi, Tarfa;
    • Aboelanine, Ashraf H.;
    • Awaji, Ali;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • A founder DBR1 variant causes a lethal form of congenital ichthyosis.

    Published in:
    Human Genetics, 2023, v. 142, n. 10, p. 1491, doi. 10.1007/s00439-023-02597-3
    By:
    • Shamseldin, Hanan E.;
    • Sadagopan, Mukunth;
    • Martini, Javier;
    • Al-Ali, Ruslan;
    • Radefeldt, Mandy;
    • Ataei, Mojgan;
    • Lemke, Sabrina;
    • Rahbeeni, Zuhair;
    • Al Mutairi, Fuad;
    • Ababneh, Faroug;
    • AlRukban, Hadeel A.;
    • Abdulwahab, Firdous;
    • Alhajj, Saleh Mohammed;
    • Bauer, Peter;
    • Bertoli-Avella, Aida;
    • Alkuraya, Fowzan S.
    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

  • PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.

    Published in:
    Human Genetics, 2023, v. 142, n. 4, p. 477, doi. 10.1007/s00439-023-02527-3
    By:
    • Shamseldin, Hanan E.;
    • Derar, Nada;
    • Alzaidan, Hamad;
    • AlHathal, Naif;
    • Alfalah, Abdullah;
    • Abdulwahab, Firdous;
    • Alzaid, Tariq;
    • Alkeraye, Salim;
    • Alobaida, Saud A.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis.

    Published in:
    Clinical Genetics, 2022, v. 102, n. 1, p. 61, doi. 10.1111/cge.14128
    By:
    • Al‐Hamed, Mohamed H.;
    • Altuwaijri, Norah;
    • Alsahan, Nada;
    • Ali, Wafaa;
    • Abdulwahab, Firdous;
    • Alzahrani, Fatema;
    • Majrashi, Nada;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Mitochondrial "dysmorphology" in variant classification.

    Published in:
    Human Genetics, 2022, v. 141, n. 1, p. 55, doi. 10.1007/s00439-021-02378-w
    By:
    • Shamseldin, Hanan E.;
    • Alhashem, Amal;
    • Tabarki, Brahim;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Sougrat, Rachid;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • 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

  • Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1628
    By:
    • Khan, Arif O.;
    • AlAbdi, Lama;
    • Patel, Nisha;
    • Helaby, Rana;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • AlBadr, Fahad B.;
    • 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

  • 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

  • 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

  • Confirming the recessive inheritance of PERP‐related erythrokeratoderma.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 4, p. 661, doi. 10.1111/cge.13699
    By:
    • Patel, Nisha;
    • Alkeraye, Salim;
    • Alobeid, Eman;
    • Alshidi, Tarfa;
    • Helaby, Rana;
    • Abdulwahab, Firdous;
    • Shamseldin, Hanan E.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy.

    Published in:
    Human Genetics, 2019, v. 138, n. 11/12, p. 1247, doi. 10.1007/s00439-019-02063-z
    By:
    • Broeks, Melissa H.;
    • Shamseldin, Hanan E.;
    • Alhashem, Amal;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • Alshedi, Tarfa;
    • Alobaid, Iman;
    • Zwartkruis, Fried;
    • Westland, Denise;
    • Fuchs, Sabine;
    • Verhoeven-Duif, Nanda M.;
    • Jans, Judith J. M.;
    • Alkuraya, Fowzan S.
    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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • TLE6 mutation causes the earliest known human embryonic lethality.

    Published in:
    Genome Biology, 2015, v. 16, p. 1, doi. 10.1186/s13059-015-0792-0
    By:
    • Alazami, Anas M.;
    • Awad, Salma M.;
    • Coskun, Serdar;
    • Al-Hassan, Saad;
    • Hijazi, Hadia;
    • Abdulwahab, Firdous M.;
    • Poizat, Coralie;
    • 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