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Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00437-5
By:
- Li, Simo;
- Takada, Sanami;
- Abdel-Salam, Ghada M. H.;
- Abdel-Hamid, Mohamed S.;
- Zaki, Maha S.;
- Issa, Mahmoud Y.;
- Salem, Aida M. S.;
- Koshimizu, Eriko;
- Fujita, Atsushi;
- Fukai, Ryoko;
- Ohshima, Toshio;
- Matsumoto, Naomichi;
- Miyake, Noriko
Publication type:
Article
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.
Published in:
2022
By:
- Elsner, Leonie von;
- Chai, Guoliang;
- Schneeberger, Pauline E;
- Harms, Frederike L;
- Casar, Christian;
- Qi, Minyue;
- Alawi, Malik;
- Abdel-Salam, Ghada M H;
- Zaki, Maha S;
- Arndt, Florian;
- Yang, Xiaoxu;
- Stanley, Valentina;
- Hempel, Maja;
- Gleeson, Joseph G;
- Kutsche, Kerstin;
- von Elsner, Leonie
Publication type:
journal article
Magnetic resonance imaging of developmental facial paresis: a spectrum of complex anomalies.
Published in:
Neuroradiology, 2018, v. 60, n. 10, p. 1053, doi. 10.1007/s00234-018-2063-8
By:
- Mohammad, Shaimaa Abdelsattar;
- Abdelaziz, Tougan Taha;
- Gadelhak, Mohamed I.;
- Afifi, Hanan H.;
- Abdel-Salam, Ghada M. H.
Publication type:
Article
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1829
By:
- Mohamed, Amal M.;
- Kamel, Alaa K.;
- Eid, Maha M.;
- Eid, Ola M.;
- Mekkawy, Mona;
- Hussein, Shymaa H.;
- Zaki, Maha S.;
- Esmail, Samira;
- Afifi, Hanan H.;
- El‐Kamah, Ghada Y.;
- Otaify, Ghada A.;
- El‐Awady, Heba Ahmed;
- Elaidy, Aya;
- Essa, Mahmoud Y.;
- El‐Ruby, Mona;
- Ashaat, Engy A.;
- Hammad, Saida A.;
- Mazen, Inas;
- Abdel‐Salam, Ghada M. H.;
- Aglan, Mona
Publication type:
Article
CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2100, doi. 10.1002/ajmg.a.63246
By:
- Otaify, Ghada A.;
- Elhossini, Rasha M.;
- Abdel‐Ghafar, Sherif F.;
- Sayed, Inas M.;
- Abdel‐Salam, Ghada M. H.;
- Aglan, Mona S.;
- Abdel‐Hamid, Mohamed S.
Publication type:
Article
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 735, doi. 10.1002/ajmg.a.62565
By:
- Herman, Isabella;
- Jolly, Angad;
- Du, Haowei;
- Dawood, Moez;
- Abdel‐Salam, Ghada M. H.;
- Marafi, Dana;
- Mitani, Tadahiro;
- Calame, Daniel G.;
- Coban‐Akdemir, Zeynep;
- Fatih, Jawid M.;
- Hegazy, Ibrahim;
- Jhangiani, Shalini N.;
- Gibbs, Richard A.;
- Pehlivan, Davut;
- Posey, Jennifer E.;
- Lupski, James R.
Publication type:
Article
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 648, doi. 10.1002/ajmg.a.62561
By:
- Abdel‐Salam, Ghada M. H.;
- Duan, Ruizhi;
- Abdel‐Hamid, Mohamed S.;
- Sayed, Inas S. M.;
- Jhangiani, Shalini N.;
- Khan, Ziad;
- Du, Haowei;
- Gibbs, Richard A.;
- Posey, Jennifer E.;
- Marafi, Dana;
- Lupski, James R.
Publication type:
Article
Expanding the KIF4A‐associated phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3728, doi. 10.1002/ajmg.a.62443
By:
- Kalantari, Silvia;
- Carlston, Colleen;
- Alsaleh, Norah;
- Abdel‐Salam, Ghada M. H.;
- Alkuraya, Fowzan;
- Kato, Mitsuhiro;
- Matsumoto, Naomichi;
- Miyatake, Satoko;
- Yamamoto, Tatsuya;
- Fares‐Taie, Lucas;
- Rozet, Jean‐Michel;
- Chassaing, Nicolas;
- Vincent‐Delorme, Catherine;
- Kang‐Bellin, Anjeung;
- McWalter, Kirsty;
- Bupp, Caleb;
- Palen, Emily;
- Wagner, Monisa D.;
- Niceta, Marcello;
- Cesario, Claudia
Publication type:
Article
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
Lenz–Majewski syndrome in a patient from Egypt.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2039, doi. 10.1002/ajmg.a.61327
By:
- Afifi, Hanan H.;
- Abdel‐Hamid, Mohamed S.;
- Mehrez, Mennat I.;
- El‐Kamah, Ghada;
- Abdel‐Salam, Ghada M. H.
Publication type:
Article
Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1053, doi. 10.1002/ajmg.a.61133
By:
- Abdel‐Salam, Ghada M. H.;
- Mazen, Inas;
- Eid, Maha;
- Ewida, Nour;
- Shaheen, Ranad;
- Alkuraya, Fowzan S.
Publication type:
Article
GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 237, doi. 10.1002/ajmg.a.61021
By:
- Abdel‐Hamid, Mohamed S.;
- Ismail, Samira;
- Zaki, Maha S.;
- Abdel‐Salam, Ghada M. H.;
- Otaify, Ghada A.;
- Issa, Mahmoud Y.;
- Abdel‐Kader, Mohamed;
- Girgis, Marian;
- Aboul‐Ezz, Eman;
- Mazen, Inas;
- Aglan, Mona S.;
- Temtamy, Samia A.
Publication type:
Article
Warsaw breakage syndrome: Further clinical and genetic delineation.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2404, doi. 10.1002/ajmg.a.40482
By:
- Alkhunaizi, Ebba;
- Shaheen, Ranad;
- Bharti, Sanjay Kumar;
- Joseph‐George, Ann M.;
- Chong, Karen;
- Abdel‐Salam, Ghada M. H.;
- Alowain, Mohammed;
- Blaser, Susan I.;
- Papsin, Blake C.;
- Butt, Mohammed;
- Hashem, Mais;
- Martin, Nicole;
- Godoy, Ruth;
- Brosh, Robert M.;
- Alkuraya, Fowzan S.;
- Chitayat, David
Publication type:
Article
Phenotypic and molecular insights into PQBP1‐related intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2446, doi. 10.1002/ajmg.a.40479
By:
- Abdel‐Salam, Ghada M. H.;
- Miyake, Noriko;
- Abdel‐Hamid, Mohamed S.;
- Sayed, Inas S. M.;
- Gadelhak, Mohamed I.;
- Ismail, Samira I.;
- Aglan, Mona S.;
- Afifi, Hanan H.;
- Temtamy, Samia A.;
- Matsumoto, Naomichi
Publication type:
Article
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
Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2133, doi. 10.1002/ajmg.a.37724
By:
- Abdel‐Hamid, Mohamed S.;
- Ismail, Manal F.;
- Darwish, Hebatallh A.;
- Effat, Laila K.;
- Zaki, Maha S.;
- Abdel‐Salam, Ghada M. H.
Publication type:
Article
De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2418, doi. 10.1002/ajmg.a.37185
By:
- Afifi, Hanan H.;
- Fukai, Ryoko;
- Miyake, Noriko;
- Gamal el Din, Amina A.;
- Eid, Maha M.;
- Eid, Ola M.;
- Thomas, Manal M.;
- El‐Badry, Tarek H.;
- Tosson, Angie M. S.;
- Abdel‐Salam, Ghada M. H.;
- Matsumoto, Naomichi
Publication type:
Article
New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3035, doi. 10.1002/ajmg.a.34078
By:
- Zaki, Maha S.;
- Salam, Ghada M. H. Abdel;
- Saleem, Sahar N.;
- Dobyns, William B.;
- Issa, Mahmoud Y.;
- Sattar, Shifteh;
- Gleeson, Joseph G.
Publication type:
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
Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants.
Published in:
Middle East Journal of Medical Genetics, 2022, v. 11, n. 1, p. 1, doi. 10.21608/MXE.2023.283877
By:
- Eissa, Noura R.;
- Essawi, Mona L.;
- Abdel-Salam, Ghada M. H.;
- Hassan, Heba A.;
- Fateen, Ekram M.;
- Temtamy, Samia A.
Publication type:
Article
Association of epilepsy with different groups of microcephaly.
Published in:
2000
By:
- Abdel-Salam, Ghada M H;
- Halász, Adrienne A;
- Czeizel, Andrew E;
- Abdel-Salam, G M;
- Halász, A A;
- Czeizel, A E
Publication type:
journal article
Mutation in WDR4 impairs tRNA m<sup>7</sup>G<sub>46</sub> methylation and causes a distinct form of microcephalic primordial dwarfism.
Published in:
Genome Biology, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s13059-015-0779-x
By:
- Shaheen, Ranad;
- Abdel-Salam, Ghada M. H.;
- Guy, Michael P.;
- Alomar, Rana;
- Abdel-Hamid, Mohamed S.;
- Afifi, Hanan H.;
- Ismail, Samira I.;
- Emam, Bayoumi A.;
- Phizicky, Eric M.;
- Alkuraya, Fowzan S.
Publication type:
Article
Delineating the phenotype of PNPLA8‐related mitochondriopathies.
Published in:
Clinical Genetics, 2024, v. 105, n. 1, p. 92, doi. 10.1111/cge.14421
By:
- Abdel‐Hamid, Mohamed S.;
- Abdel‐Salam, Ghada M. H.;
- Abdel‐Ghafar, Sherif F.;
- Zaki, Maha S.
Publication type:
Article
A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia.
Published in:
Clinical Genetics, 2023, v. 104, n. 3, p. 356, doi. 10.1111/cge.14357
By:
- Abdel‐Salam, Ghada M. H.;
- Abdel‐Hamid, Mohamed S.
Publication type:
Article
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
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
DTYMK is essential for genome integrity and neuronal survival.
Published in:
Acta Neuropathologica, 2022, v. 143, n. 2, p. 245, doi. 10.1007/s00401-021-02394-0
By:
- Vanoevelen, Jo M.;
- Bierau, Jörgen;
- Grashorn, Janine C.;
- Lambrichs, Ellen;
- Kamsteeg, Erik-Jan;
- Bok, Levinus A.;
- Wevers, Ron A.;
- van der Knaap, Marjo S.;
- Bugiani, Marianna;
- Frisk, Junmei Hu;
- Colnaghi, Rita;
- O'Driscoll, Mark;
- Hellebrekers, Debby M. E. I.;
- Rodenburg, Richard;
- Ferreira, Carlos R.;
- Brunner, Han G.;
- van den Wijngaard, Arthur;
- Abdel-Salam, Ghada M. H.;
- Wang, Liya;
- Stumpel, Constance T. R. M.
Publication type:
Article
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 207, doi. 10.1002/ajmg.a.33777
By:
- Abdel-Salam, Ghada M. H.;
- Flores-Sarnat, Laura;
- El-Ruby, Mona O.;
- Parboosingh, Jillian;
- Bridge, Peter;
- Eid, Maha M.;
- El-Badry, Tarek H.;
- Effat, Laila;
- Curatolo, Paolo;
- Temtamy, Samia A.
Publication type:
Article
Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.
Published in:
Prenatal Diagnosis, 2020, v. 40, n. 12, p. 1578, doi. 10.1002/pd.5818
By:
- El‐Dessouky, Sara H.;
- Abdel‐Hamid, Mohamed S.;
- Abdel‐Ghafar, Sherif F.;
- Aboulghar, Mona M.;
- Gaafar, Hassan M.;
- Fouad, Mona;
- Ahmed, Adel H.;
- Abdel‐Salam, Ghada M. H.
Publication type:
Article
Response to letter from Okoye JO and Ngokere AA "Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?".
Published in:
Prenatal Diagnosis, 2020, v. 40, n. 12, p. 1618, doi. 10.1002/pd.5804
By:
- Abdel‐Salam, Ghada M. H.;
- El‐Dessouky, Sara H.;
- Aboulghar, Mona M.;
- Eid, Maha M.
Publication type:
Article
Response to letter from Okoye JO and Ngokere AA "Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?".
Published in:
Prenatal Diagnosis, 2020, v. 40, p. 1618, doi. 10.1002/pd.5804
By:
- Abdel‐Salam, Ghada M. H.;
- El‐Dessouky, Sara H.;
- Aboulghar, Mona M.;
- Eid, Maha M.
Publication type:
Article
Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.
Published in:
Prenatal Diagnosis, 2020, v. 40, p. 1578, doi. 10.1002/pd.5818
By:
- El‐Dessouky, Sara H.;
- Abdel‐Hamid, Mohamed S.;
- Abdel‐Ghafar, Sherif F.;
- Aboulghar, Mona M.;
- Gaafar, Hassan M.;
- Fouad, Mona;
- Ahmed, Adel H.;
- Abdel‐Salam, Ghada M. H.
Publication type:
Article
Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations.
Published in:
2020
By:
- El‐Dessouky, Sara H.;
- Aboulghar, Mona M.;
- Gaafar, Hassan M.;
- Abdella, Rana M.;
- Sharaf, Marwa F.;
- Ateya, Mohamed I.;
- Elarab, Ahmed Ezz;
- Zidan, Walaa H.;
- Helal, Rania M.;
- Aboelsaud, Samah M.;
- Eid, Maha M.;
- Abdel‐Salam, Ghada M.H.;
- El-Dessouky, Sara H;
- Abdel-Salam, Ghada M H
Publication type:
journal article
Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.
Published in:
Neurogenetics, 2021, v. 22, n. 4, p. 287, doi. 10.1007/s10048-021-00665-2
By:
- Abdel-Hamid, Mohamed S.;
- Sabry, Sahar;
- Abdel-Ghafar, Sherif F.;
- El-Dessouky, Sara H.;
- Abdel-Salam, Ghada M. H.
Publication type:
Article

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