El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype
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, Al Madhi, Asma, Abou Al‐Seood, Hager M., Alasmari, Ali, Houlden, Henry, Gleeson, Joseph G., Hunter, Jill V., Posey, Jennifer E., Lupski, James R., El‐Hattab, Ayman W.
Published in Clinical genetics (01.05.2022)
Published in Clinical genetics (01.05.2022)
Get full text
Journal Article
Expanding the KIF4A‐associated phenotype
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, Milone, Roberta, Kaplan, Julie, Wadman, Erin, Dobyns, William B., Filges, Isabel
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
Get full text
Journal Article
Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations
Abdel-Hamid, Mohamed S., Ismail, Manal F., Darwish, Hebatallh A., Effat, Laila K., Zaki, Maha S., Abdel-Salam, Ghada M. H.
Published in American journal of medical genetics. Part A (01.08.2016)
Published in American journal of medical genetics. Part A (01.08.2016)
Get full text
Journal Article
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly
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.
Published in Human genetics (01.03.2019)
Published in Human genetics (01.03.2019)
Get full text
Journal Article
Delineating the phenotype of PNPLA8‐related mitochondriopathies
Abdel‐Hamid, Mohamed S., Abdel‐Salam, Ghada M. H., Abdel‐Ghafar, Sherif F., Zaki, Maha S.
Published in Clinical genetics (01.01.2024)
Published in Clinical genetics (01.01.2024)
Get full text
Journal Article
CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum
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.
Published in American journal of medical genetics. Part A (01.08.2023)
Published in American journal of medical genetics. Part A (01.08.2023)
Get full text
Journal Article
Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia
Abdel‐Salam, Ghada M. H., Mazen, Inas, Eid, Maha, Ewida, Nour, Shaheen, Ranad, Alkuraya, Fowzan S.
Published in American journal of medical genetics. Part A (01.06.2019)
Published in American journal of medical genetics. Part A (01.06.2019)
Get full text
Journal Article
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses
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.
Published in American journal of medical genetics. Part A (01.03.2022)
Published in American journal of medical genetics. Part A (01.03.2022)
Get full text
Journal Article
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait
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.
Published in American journal of medical genetics. Part A (01.02.2022)
Published in American journal of medical genetics. Part A (01.02.2022)
Get full text
Journal Article
Exome sequencing can improve diagnosis and alter patient management
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, Collazo, Adrienne, Fenstermaker, Ali G, Novarino, Gaia, Akizu, Naiara, Garimella, Kiran V, Sougnez, Carrie, Russ, Carsten, Gabriel, Stacey B, Gleeson, Joseph G
Published in Science translational medicine (13.06.2012)
Published in Science translational medicine (13.06.2012)
Get more information
Journal Article
De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features
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
Published in American journal of medical genetics. Part A (01.10.2015)
Published in American journal of medical genetics. Part A (01.10.2015)
Get full text
Journal Article
Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification
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.
Published in Prenatal diagnosis (01.12.2020)
Published in Prenatal diagnosis (01.12.2020)
Get full text
Journal Article
Warsaw breakage syndrome: Further clinical and genetic delineation
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
Published in American journal of medical genetics. Part A (01.11.2018)
Published in American journal of medical genetics. Part A (01.11.2018)
Get full text
Journal Article
Lenz–Majewski syndrome in a patient from Egypt
Afifi, Hanan H., Abdel‐Hamid, Mohamed S., Mehrez, Mennat I., El‐Kamah, Ghada, Abdel‐Salam, Ghada M. H.
Published in American journal of medical genetics. Part A (01.10.2019)
Published in American journal of medical genetics. Part A (01.10.2019)
Get full text
Journal Article
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation
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.
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
Get full text
Journal Article
Phenotypic and molecular insights into PQBP1‐related intellectual disability
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
Published in American journal of medical genetics. Part A (01.11.2018)
Published in American journal of medical genetics. Part A (01.11.2018)
Get full text
Journal Article
Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type‐2
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.
Published in American journal of medical genetics. Part A (01.05.2018)
Published in American journal of medical genetics. Part A (01.05.2018)
Get full text
Journal Article