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

di Zaki, Maha S, Sattar, Shifteh, Massoudi, Rustin A, Gleeson, Joseph G
Pubblicazione 2011

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

di Zaki, Maha S., Afifi, Hanan H., Barkovich, AJ., Gleeson, Joseph G.
Pubblicato in Am J Med Genet A (2009)

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

di Zaki, Maha S., Masri, Amira, Gregor, Anne, Gleeson, Joseph G., Rosti, Rasim Ozgur
Pubblicato in Am J Med Genet A (2015)

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

di Ismail, Samira, Schaffer, Ashleigh E., Rosti, Rasim O., Gleeson, Joseph G., Zaki, Maha S.
Pubblicato in Gene (2014)

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

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

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

di Zaki, Maha, Thoenes, Michaela, Kawalia, Amit, Nürnberg, Peter, Kaiser, Rolf, Heller, Raoul, Bolz, Hanno J.
Pubblicato in Front Genet (2017)

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

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

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

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

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

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

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

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

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

di 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
Pubblicazione 2014

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

di 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.
Pubblicato in Eur J Paediatr Neurol (2016)

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

di 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.
Pubblicazione 2011

Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation

di 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
Pubblicazione 2012

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

di 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.
Pubblicato in Eur J Hum Genet (2021)

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

di 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.
Pubblicato in Ann Neurol (2016)

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

di 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.
Pubblicazione 2013

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

di 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.
Pubblicato in Am J Med Genet A (2016)

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

di 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.
Pubblicato in BMC Med Genomics (2020)

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

di 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
Pubblicato in J Med Genet (2021)