Works by Issa, Mahmoud Y.

Results: 27
    1

    Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort.

    Published in:
    Clinical Genetics, 2025, v. 108, n. 1, p. 33, doi. 10.1111/cge.14712
    By:
    • El‐Dessouky, Sara H.;
    • Sharaf‐Eldin, Wessam E.;
    • Aboulghar, Mona M.;
    • Mousa, Hatem A.;
    • Zaki, Maha S.;
    • Maroofian, Reza;
    • Senousy, Sameh M.;
    • Eid, Maha M.;
    • Gaafar, Hassan M.;
    • Ebrashy, Alaa;
    • Shikhah, Ahmed Z.;
    • Abdelfattah, Ahmed N.;
    • Ezz‐Elarab, Ahmed;
    • Ateya, Mohamed I.;
    • Hosny, Adel;
    • Youssef, Mohamed Abdefattah;
    • Abdella, Rana;
    • Issa, Mahmoud Y.;
    • Matsa, Lova S.;
    • Abdelaziz, Nahla
    Publication type:
    Article
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    The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 5, p. 510, doi. 10.1111/cge.14481
    By:
    • Elkhateeb, Nour;
    • Issa, Mahmoud Y.;
    • Elbendary, Hasnaa M.;
    • Elnaggar, Walaa;
    • Ramadan, Areef;
    • Rafat, Karima;
    • Kamel, Mona;
    • Abdel‐Ghafar, Sherif F.;
    • Amer, Fawzia;
    • Hassaan, Hebatallah M.;
    • Trunzo, Roberta;
    • Pereira, Catarina;
    • Abdel‐Hamid, Mohamed S.;
    • D'Arco, Felice;
    • Bauer, Peter;
    • Bertoli‐Avella, Aida M.;
    • Girgis, Marian;
    • Gleeson, Joseph G.;
    • Zaki, Maha S.;
    • Selim, Laila
    Publication type:
    Article
    8

    Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 2, p. 238, doi. 10.1111/cge.14338
    By:
    • Zaki, Maha S.;
    • Sharaf‐Eldin, Wessam E.;
    • Rafat, Karima;
    • Elbendary, Hasnaa M.;
    • Kamel, Mona;
    • Elkhateeb, Nour;
    • Noureldeen, Mahmoud M.;
    • Abdeltawab, Mohamed A.;
    • Sadek, Abdelrahim A.;
    • Essawi, Mona L.;
    • Lau, Tracy;
    • Murphy, David;
    • Abdel‐Hamid, Mohamed S.;
    • Holuden, Henry;
    • Issa, Mahmoud Y.;
    • Gleeson, Joseph G.
    Publication type:
    Article
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    Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1407, doi. 10.1002/ajmg.a.61585
    By:
    • Abdel‐Salam, Ghada M. H.;
    • Sayed, Inas S. M.;
    • Afifi, Hanan H.;
    • Abdel‐Ghafar, Sherif F.;
    • Abouzaid, Maha R.;
    • Ismail, Samira I.;
    • Aglan, Mona S.;
    • Issa, Mahmoud Y.;
    • EL‐Bassyouni, Hala T.;
    • El‐Kamah, Ghada;
    • Effat, Laila K.;
    • Eid, Maha;
    • Zaki, Maha S.;
    • Temtamy, Samia A.;
    • Abdel‐Hamid, Mohamed S.
    Publication type:
    Article
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    Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.

    Published in:
    2020
    By:
    • Zilmer, Monica;
    • Edmondson, Andrew C;
    • Khetarpal, Sumeet A;
    • Alesi, Viola;
    • Zaki, Maha S;
    • Rostasy, Kevin;
    • Madsen, Camilla G;
    • Lepri, Francesca R;
    • Sinibaldi, Lorenzo;
    • Cusmai, Raffaella;
    • Novelli, Antonio;
    • Issa, Mahmoud Y;
    • Fenger, Christina D;
    • Jamra, Rami Abou;
    • Reutter, Heiko;
    • Briuglia, Silvana;
    • Agolini, Emanuele;
    • Hansen, Lars;
    • Petäjä-Repo, Ulla E;
    • Hintze, John
    Publication type:
    journal article
    22

    Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

    Published in:
    2018
    By:
    • Guemez‐Gamboa, Alicia;
    • Çağlayan, Ahmet Okay;
    • Stanley, Valentina;
    • Gregor, Anne;
    • Zaki, Maha S.;
    • Saleem, Sahar N.;
    • Musaev, Damir;
    • McEvoy‐Venneri, Jennifer;
    • Belandres, Denice;
    • Akizu, Naiara;
    • Silhavy, Jennifer L.;
    • Schroth, Jana;
    • Rosti, Rasim Ozgur;
    • Copeland, Brett;
    • Lewis, Steven M.;
    • Fang, Rebecca;
    • Issa, Mahmoud Y.;
    • Per, Huseyin;
    • Gumus, Hakan;
    • Bayram, Ayse Kacar
    Publication type:
    journal article
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    Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect.

    Published in:
    Prenatal Diagnosis, 2025, v. 45, n. 2, p. 204, doi. 10.1002/pd.6697
    By:
    • El‐Dessouky, Sara H.;
    • Sharaf‐Eldin, Wessam E.;
    • Aboulghar, Mona M.;
    • Ebrashy, Alaa;
    • Senousy, Sameh M.;
    • Elarab, Ahmed Ezz;
    • Gaafar, Hassan M.;
    • Ateya, Mohamed I.;
    • Abdelfattah, Ahmed N.;
    • Saad, Ahmed K.;
    • Zolfokar, Dalia S.;
    • Fouad, Mona M.;
    • Abdella, Rana M.;
    • Sharaf, Marwa F.;
    • Issa, Mahmoud Y.;
    • Matsa, Lova S.;
    • Aref, Haissam;
    • Soliman, Samar H.;
    • Al‐Bellehy, Muhamed A.;
    • Abdel‐Aziz, Nahla N.
    Publication type:
    Article
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    Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-07067-3
    By:
    • Friedman, Jennifer;
    • Smith, Desiree E.;
    • Issa, Mahmoud Y.;
    • Stanley, Valentina;
    • Wang, Rengang;
    • Mendes, Marisa I.;
    • Wright, Meredith S.;
    • Wigby, Kristen;
    • Hildreth, Amber;
    • Crawford, John R.;
    • Koehler, Alanna E.;
    • Chowdhury, Shimul;
    • Nahas, Shareef;
    • Zhai, Liting;
    • Xu, Zhiwen;
    • Lo, Wing-Sze;
    • James, Kiely N.;
    • Musaev, Damir;
    • Accogli, Andrea;
    • Guerrero, Kether
    Publication type:
    Article