Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers

od Zaki, Maha S, Sattar, Shifteh, Massoudi, Rustin A, Gleeson, Joseph G
Wydane 2011

Familial Congenital Unilateral Cerebral Ventriculomegaly: Delineation of a Distinct Genetic Disorder

od Zaki, Maha S., Afifi, Hanan H., Barkovich, AJ., Gleeson, Joseph G.
Wydane w Am J Med Genet A (2009)

Dandy–Walker Malformation, Genitourinary Abnormalities, and Intellectual Disability in Two Families

od Zaki, Maha S., Masri, Amira, Gregor, Anne, Gleeson, Joseph G., Rosti, Rasim Ozgur
Wydane w Am J Med Genet A (2015)

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly

od Ismail, Samira, Schaffer, Ashleigh E., Rosti, Rasim O., Gleeson, Joseph G., Zaki, Maha S.
Wydane w Gene (2014)

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

od Shamseldin, Hanan E., Faqeih, Eissa, Alasmari, Ali, Zaki, Maha S., Gleeson, Joseph G., Alkuraya, Fowzan S.
Wydane w Am J Hum Genet (2016)

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

od Zaki, Maha, Thoenes, Michaela, Kawalia, Amit, Nürnberg, Peter, Kaiser, Rolf, Heller, Raoul, Bolz, Hanno J.
Wydane w Front Genet (2017)

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

od Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico A., Zaki, Maha, Issa, Mahmoud Y., Ansar, Muhammad, Hamamy, Hanan, Antonarakis, Stylianos E.
Wydane w Hum Genomics (2016)

Expanding the Clinical Spectrum of SPG11 Gene Mutations in Recessive Hereditary Spastic Paraplegia with Thin Corpus Callosum

od Aleem, Alice Abdel, Abu-Shahba, Nourhan, Swistun, Dominika, Silhavy, Jennifer, Bielas, Stephanie L., Sattar, Shifteh, Gleeson, Joseph G., Zaki, Maha
Wydane 2010

A Homozygous IER3IP1 Mutation Causes Microcephaly With Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome (MEDS)

od Abdel-Salam, Ghada MH, Schaffer, Ashleigh E, Zaki, Maha S, Dixon-Salazar, Tracy, Mostafa, Inas S, Afifi, Hanan H, Gleeson, Joseph G
Wydane 2012

New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect

od Zaki, Maha S, Salam, Ghada M H Abdel, Saleem, Sahar N, Dobyns, William B, Issa, Mahmoud Y, Sattar, Shifteh, Gleeson, Joseph G
Wydane 2011

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

od Elsayed, Solaf M, Heller, Raoul, Thoenes, Michaela, Zaki, Maha S, Swan, Daniel, Elsobky, Ezzat, Zühlke, Christine, Ebermann, Inga, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno J
Wydane 2014

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients

od Zaki, Maha S., Selim, Laila, EL-Bassyouni, Hala T., Issa, Mahmoud Y., Mahmoud, Iman, Ismail, Samira, Girgis, Mariane, Sadek, Abdelrahim A., Gleeson, Joseph G., Abdel Hamid, Mohamed S.
Wydane w Eur J Paediatr Neurol (2016)

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

od Lancaster, Madeline A., Gopal, Dipika J., Kim, Joon, Saleem, Sahar N., Silhavy, Jennifer L., Louie, Carrie M., Thacker, Bryan E., Williams, Yuko, Zaki, Maha S., Gleeson, Joseph G.
Wydane 2011

Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation

od Zaki, Maha S., Saleem, Sahar N., Dobyns, William B., Barkovich, A. James, Bartsch, Hauke, Dale, Anders M., Ashtari, Manzar, Akizu, Naiara, Gleeson, Joseph G., Grijalvo-Perez, Ana Maria
Wydane 2012

Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia

od Ghosh, Shereen G., Breuss, Martin W., Schlachetzki, Zinayida, Chai, Guoliang, Ross, Danica, Stanley, Valentina, Sonmez, F. Mujgan, Topaloglu, Haluk, Zaki, Maha S., Hosny, Heba, Gad, Shaimaa, Gleeson, Joseph G.
Wydane w Eur J Hum Genet (2021)

PYCR2 mutations cause a lethal syndrome of microcephaly and failure to thrive

od Zaki, Maha S., Bhat, Gifty, Sultan, Tipu, Issa, Mahmoud, Jung, Hea-Jin, Dikoglu, Esra, Selim, Laila, Gamal, Imam, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada, Marin-Valencia, Isaac, Gleeson, Joseph G.
Wydane w Ann Neurol (2016)

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

od Shaheen, Ranad, Aglan, Mona, Keppler-Noreuil, Kim, Faqeih, Eissa, Ansari, Shinu, Horton, Kim, Ashour, Adel, Zaki, Maha S., Al-Zahrani, Fatema, Cueto-González, Anna M., Abdel-Salam, Ghada, Temtamy, Samia, Alkuraya, Fowzan S.
Wydane 2013

Extending the Mutation Spectrum for Galloway–Mowat Syndrome to Include Homozygous Missense Mutations in the WDR73 Gene

od Rosti, Rasim O., Dikoglu, Esra, Zaki, Maha S., Abdel-Salam, Ghada, Makhseed, Nawal, Sese, Jordan C., Musaev, Damir, Rosti, Basak, Harbert, Mary J., Jones, Marilyn C., Vaux, Keith K., Gleeson, Joseph G.
Wydane w Am J Med Genet A (2016)

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

od Issa, Mahmoud Y., Chechlacz, Zinayida, Stanley, Valentina, George, Renee D., McEvoy-Venneri, Jennifer, Belandres, Denice, Elbendary, Hasnaa M., Gaber, Khaled R., Nabil, Ahmed, Abdel-Hamid, Mohamed S., Zaki, Maha S., Gleeson, Joseph G.
Wydane w BMC Med Genomics (2020)

Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy

od Maroofian, Reza, Sedmík, Jiří, Mazaheri, Neda, Scala, Marcello, Zaki, Maha S, Keegan, Liam P, Azizimalamiri, Reza, Issa, Mahmoud, Shariati, Gholamreza, Sedaghat, Alireza, Beetz, Christian, Bauer, Peter, Galehdari, Hamid, O’Connell, Mary A, Houlden, Henry
Wydane w J Med Genet (2021)