Works by Zaki, Maha S.

Results: 101
    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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    Exome Sequencing Can Improve Diagnosis and Alter Patient Management.

    Published in:
    Science Translational Medicine, 2012, v. 4, n. 138, p. 1, doi. 10.1126/scitranslmed.3003544
    By:
    • Dixon-Salazar, Tracy J.;
    • Silhavy, Jennifer L.;
    • Udpa, Nitin;
    • Schroth, Jana;
    • Bielas, Stephanie;
    • Schaffer, Ashleigh E.;
    • Olvera, Jesus;
    • Bafna, Vineet;
    • Zaki, Maha S.;
    • Abdel-Salam, Ghada H.;
    • Mansour, Lobna A.;
    • Selim, Laila;
    • Abdel-Hadi, Sawsan;
    • Marzouki, Naima;
    • Ben-Omran, Tawfeg;
    • Al-Saana, Nouriya A.;
    • Sonmez, F. Müjgan;
    • Celep, Figen;
    • Azam, Matloob;
    • Hill, Kiley J.
    Publication type:
    Article
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    Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2757, doi. 10.1002/ajmg.a.63363
    By:
    • Beaman, M. Makenzie;
    • Guidugli, Lucia;
    • Hammer, Monia;
    • Barrows, Chelsea;
    • Gregor, Anne;
    • Lee, Sangmoon;
    • Deak, Kristen L.;
    • McDonald, Marie T.;
    • Jensen, Courtney;
    • Zaki, Maha S.;
    • Masri, Amira T.;
    • Hobbs, Charlotte A.;
    • Gleeson, Joseph G.;
    • Cohen, Jennifer L.
    Publication type:
    Article
    7

    Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy.

    Published in:
    Epilepsia (Series 4), 2021, v. 62, n. 2, p. e35, doi. 10.1111/epi.16801
    By:
    • Efthymiou, Stephanie;
    • Dutra‐Clarke, Marina;
    • Maroofian, Reza;
    • Kaiyrzhanov, Rauan;
    • Scala, Marcello;
    • Reza Alvi, Javeria;
    • Sultan, Tipu;
    • Christoforou, Marilena;
    • Tuyet Mai Nguyen, Thi;
    • Mankad, Kshitij;
    • Vona, Barbara;
    • Rad, Aboulfazl;
    • Striano, Pasquale;
    • Salpietro, Vincenzo;
    • Guillen Sacoto, Maria J.;
    • Zaki, Maha S.;
    • Gleeson, Joseph G.;
    • Campeau, Philippe M.;
    • Russell, Bianca E.;
    • Houlden, Henry
    Publication type:
    Article
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    Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 6, p. 620, doi. 10.1111/cge.14492
    By:
    • Almannai, Mohammed;
    • Marafi, Dana;
    • Zaki, Maha S.;
    • Maroofian, Reza;
    • Efthymiou, Stephanie;
    • Saadi, Nebal Waill;
    • Filimban, Bilal;
    • Dafsari, Hormos Salimi;
    • Rahman, Fatima;
    • Maqbool, Shazia;
    • Faqeih, Eissa;
    • Al Mutairi, Fuad;
    • Alsharhan, Hind;
    • Abdelaty, Omar;
    • Bin‐Hasan, Saadoun;
    • Duan, Ruizhi;
    • Noureldeen, Mahmoud M.;
    • Alqattan, Alaa;
    • Houlden, Henry;
    • Hunter, Jill V.
    Publication type:
    Article
    11

    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
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    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
    15

    El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.

    Published in:
    Clinical Genetics, 2022, v. 101, n. 5/6, p. 530, doi. 10.1111/cge.14132
    By:
    • Almannai, Mohammed;
    • Marafi, Dana;
    • Abdel-Salam, Ghada M. H.;
    • Zaki, Maha S.;
    • Duan, Ruizhi;
    • Calame, Daniel;
    • Herman, Isabella;
    • Levesque, Felix;
    • Elbendary, Hasnaa M.;
    • Hegazy, Ibrahim;
    • Chung, Wendy K.;
    • Kavus, Haluk;
    • Saeidi, Kolsoum;
    • Maroofian, Reza;
    • AlHashim, Aqeela;
    • Al-Otaibi, Ali;
    • Madhi, Asma Al;
    • Abou Al-Seood, Hager M.;
    • Alasmari, Ali;
    • Houlden, Henry
    Publication type:
    Article
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    Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 4, p. 537, doi. 10.1111/cge.13492
    By:
    • Mahmoud, Iman G.;
    • Elkhateeb, Nour M.;
    • Elnaggar, Walaa;
    • Sobhi, Ahmed;
    • Girgis, Marian Y.;
    • Kamel, Mona;
    • Shaheen, Yara;
    • Samaha, Mona;
    • Ramadan, Areef;
    • Hassan, Sawsan A.;
    • Khalifa, Iman A.;
    • Mossad, Fawzya;
    • Al‐Menabawy, Nihal M.;
    • Selim, Laila A.;
    • Elmonem, Mohamed A.;
    • Zaki, Maha S.;
    • El‐Hawary, Bahaa;
    • Zielke, Susanne;
    • Rolfs, Arndt;
    • Gleeson, Joseph G.
    Publication type:
    Article
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    CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

    Published in:
    Nature Genetics, 2012, v. 44, n. 2, p. 193, doi. 10.1038/ng.1078
    By:
    • Lee, Ji Eun;
    • Silhavy, Jennifer L;
    • Zaki, Maha S;
    • Schroth, Jana;
    • Bielas, Stephanie L;
    • Marsh, Sarah E;
    • Olvera, Jesus;
    • Brancati, Francesco;
    • Iannicelli, Miriam;
    • Ikegami, Koji;
    • Schlossman, Andrew M;
    • Merriman, Barry;
    • Attié-Bitach, Tania;
    • Logan, Clare V;
    • Glass, Ian A;
    • Cluckey, Andrew;
    • Louie, Carrie M;
    • Lee, Jeong Ho;
    • Raynes, Hilary R;
    • Rapin, Isabelle
    Publication type:
    Article
    22

    Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

    Published in:
    Nature Genetics, 2009, v. 41, n. 9, p. 1032, doi. 10.1038/ng.423
    By:
    • Bielas, Stephanie L.;
    • Silhavy, Jennifer L.;
    • Brancati, Francesco;
    • Kisseleva, Marina V.;
    • Al-Gazali, Lihadh;
    • Sztriha, Laszlo;
    • Bayoumi, Riad A.;
    • Zaki, Maha S;
    • Abdel-Aleem, Alice;
    • Rosti, Rasim Ozgur;
    • Kayserili, Hulya;
    • Swistun, Dominika;
    • Scott, Lesley C.;
    • Bertini, Enrico;
    • Boltshauser, Eugen;
    • Fazzi, Elisa;
    • Travaglini, Lorena;
    • Field, Seth J.;
    • Gayral, Stephanie;
    • Jacoby, Monique
    Publication type:
    Article
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    Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 809, doi. 10.1038/ng.3311
    By:
    • Guemez-Gamboa, Alicia;
    • Akizu, Naiara;
    • Rosti, Rasim Ozgur;
    • Rosti, Basak;
    • Scott, Eric;
    • Schroth, Jana;
    • Copeland, Brett;
    • Vaux, Keith K;
    • Gleeson, Joseph G;
    • Nguyen, Long N;
    • Quek, Debra Q Y;
    • Wong, Bernice H;
    • Tan, Bryan C;
    • Silver, David L;
    • Yang, Hongbo;
    • Chi, Neil C;
    • Zaki, Maha S;
    • Kara, Majdi;
    • Ben-Omran, Tawfeg;
    • Cazenave-Gassiot, Amaury
    Publication type:
    Article
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    Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01258-4
    By:
    • Lin, Sheng-Jia;
    • Vona, Barbara;
    • Lau, Tracy;
    • Huang, Kevin;
    • Zaki, Maha S.;
    • Aldeen, Huda Shujaa;
    • Karimiani, Ehsan Ghayoor;
    • Rocca, Clarissa;
    • Noureldeen, Mahmoud M.;
    • Saad, Ahmed K.;
    • Petree, Cassidy;
    • Bartolomaeus, Tobias;
    • Abou Jamra, Rami;
    • Zifarelli, Giovanni;
    • Gotkhindikar, Aditi;
    • Wentzensen, Ingrid M.;
    • Liao, Mingjuan;
    • Cork, Emalyn Elise;
    • Varshney, Pratishtha;
    • Hashemi, Narges
    Publication type:
    Article
    30

    AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders.

    Published in:
    Annals of Neurology, 2006, v. 59, n. 3, p. 527
    By:
    • Enza Maria Valente;
    • Francesco Brancati;
    • Jennifer L. Silhavy;
    • Marco Castori;
    • Sarah E. Marsh;
    • Giuseppe Barrano;
    • Enrico Bertini;
    • Eugen Boltshauser;
    • Maha S. Zaki;
    • Alice Abdel‐Aleem;
    • Ghada M. H. Abdel‐Salam;
    • Emanuele Bellacchio;
    • Roberta Battini;
    • Robert P. Cruse;
    • William B. Dobyns;
    • Kalpathy S. Krishnamoorthy;
    • Clotilde Lagier‐Tourenne;
    • Alex Magee;
    • Ignacio Pascual‐Castroviejo;
    • Carmelo D. Salpietro
    Publication type:
    Article
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    Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

    Published in:
    Human Genetics, 2024, v. 143, n. 11, p. 1353, doi. 10.1007/s00439-024-02702-0
    By:
    • Cogan, Guillaume;
    • Zaki, Maha S.;
    • Issa, Mahmoud;
    • Keren, Boris;
    • Guillaud-Bataille, Marine;
    • Renaldo, Florence;
    • Isapof, Arnaud;
    • Lallemant, Pauline;
    • Stevanin, Giovanni;
    • Guillot-Noel, Lena;
    • Courtin, Thomas;
    • Buratti, Julien;
    • Freihuber, Cécile;
    • Gleeson, Joseph G.;
    • Howarth, Robyn;
    • Durr, Alexandra;
    • de Sainte Agathe, Jean-Madeleine;
    • Mignot, Cyril
    Publication type:
    Article
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    Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy.

    Published in:
    Movement Disorders Clinical Practice, 2022, v. 9, n. 2, p. 218, doi. 10.1002/mdc3.13398
    By:
    • Magrinelli, Francesca;
    • Cali, Elisa;
    • Braga, Vinícius Lopes;
    • Yis, Uluç;
    • Tomoum, Hoda;
    • Shamseldin, Hanan;
    • Raiman, Julian;
    • Kernstock, Christoph;
    • Rezende Filho, Flávio Moura;
    • Barsottini, Orlando Graziani Povoas;
    • Taylor, Robert W.;
    • Østergaard, Elsebet;
    • Tamim, Abdullah;
    • Schäferhoff, Karin;
    • Sallum, Juliana Maria Ferraz;
    • Zaki, Maha S.;
    • Kok, Fernando;
    • Bhatia, Kailash P.;
    • Wissinger, Bernd;
    • Sergeant, Kate
    Publication type:
    Article
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    Samia Temtamy.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3613, doi. 10.1002/ajmg.a.62409
    By:
    • S. Aglan, Mona;
    • S. Zaki, Maha
    Publication type:
    Article
    42

    Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1288, doi. 10.1002/ajmg.a.62100
    By:
    • Saad, Ahmed K.;
    • Maraf, Dana;
    • Mitani, Tadahiro;
    • Du, Haowei;
    • Rafat, Karima;
    • Fatih, Jawid M.;
    • Jhangiani, Shalini N.;
    • Coban-Akdemir, Zeynep;
    • Gibbs, Richard A.;
    • Pehlivan, Davut;
    • Hunter, Jill V.;
    • Posey, Jennifer E.;
    • Zaki, Maha S.;
    • Lupski, James R.
    Publication type:
    Article
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    Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2272, doi. 10.1002/ajmg.a.61765
    By:
    • Donkervoort, Sandra;
    • Mohassel, Payam;
    • Laugwitz, Lucia;
    • Zaki, Maha S.;
    • Kamsteeg, Erik‐Jan;
    • Maroofian, Reza;
    • Chao, Katherine R.;
    • Verschuuren‐Bemelmans, Corien C.;
    • Horber, Veronka;
    • Fock, Annemarie J. M.;
    • McCarty, Riley M.;
    • Jain, Minal S.;
    • Biancavilla, Victoria;
    • McMacken, Grace;
    • Nalls, Matthew;
    • Voermans, Nicol C.;
    • Elbendary, Hasnaa M.;
    • Snyder, Molly;
    • Cai, Chunyu;
    • Lehky, Tanya J.
    Publication type:
    Article
    45

    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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    Identification of a novel homozygous <italic>ALX4</italic> mutation in two unrelated patients with frontonasal dysplasia type‐2.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1190, doi. 10.1002/ajmg.a.38655
    By:
    • El‐Ruby, Mona;
    • El‐Din Fayez, Alaa;
    • El‐Dessouky, Sara H.;
    • Aglan, Mona S.;
    • Mazen, Inas;
    • Ismail, Nora;
    • Afifi, Hanan H.;
    • Eid, Maha M.;
    • Mostafa, Mostafa I.;
    • Mehrez, Mennat I.;
    • Khalil, Yasmin;
    • Zaki, Maha S.;
    • Gaber, Khaled R.;
    • Abdel‐Hamid, Mohamed S.;
    • Abdel‐Salam, Ghada M. H.
    Publication type:
    Article
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