Maha Zaki

60PUBLICATIONS
639CO-AUTHORS
Genetic immunologyMedical infection agents (incl. prions)Neurology and neuromuscular diseasesCell and nuclear divisionEpigenetics (incl. genome methylation and epigenomics)
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Publications (60)

|Jun 24, 2026
The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI.

|May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.

|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|Dec 23, 2025
Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patients.

Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Sherif F Abdel-Ghafar

|Oct 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

Kamal Khan, Erika Tavares, Katherine Bishara

|Sep 17, 2025
PIGC-related encephalopathy: Lessons learned from 18 new probands.

Allan Bayat, Maria Carla Borroto, Smrithi Salian

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Frequent Collaborators

13 joint publications

Mahmoud Y Issa

13 joint publications

Henry Houlden

11 joint publications

Joseph J Gleeson

10 joint publications

Reza Maroofian