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Marwan Shinawi

88PUBLICATIONS
805CO-AUTHORS
Medical infection agents (incl. prions)Neurology and neuromuscular diseasesLife historiesOncology and carcinogenesis not elsewhere classifiedProteins and peptides
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Journal

Publications (88)

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

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Oct 28, 2025
Heterozygous loss of SRRM1 may be associated with neurodevelopmental phenotypes and anomalies in cell growth and neurite morphology.

Melek Firat Altay, Anne Gregor, Dominique Braun

|Oct 07, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh

|Sep 05, 2025
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).

E Andres Rivera-Munoz, Xiaonan E Zhao, Jill A Rosenfeld

|Aug 27, 2025
Heterozygous variants in <i>PLCG1</i> affect hearing, vision, cardiac, and immune function.

Mengqi Ma, Yiming Zheng, Mingxi Deng

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Frequent Collaborators

17 joint publications

Daryl Scott

12 joint publications

Pengfei Liu

10 joint publications

Lindsay C Burrage

8 joint publications

Jennifer E Posey

7 joint publications

Evan E Eichler

6 joint publications

Hsiao-Tuan Chao

6 joint publications

Richard Alan Lewis

6 joint publications

Tianyun Wang

6 joint publications

Henry Houlden

5 joint publications

Carlos Bacino

Frequent Collaborators

17 joint publications

Daryl Scott

12 joint publications

Pengfei Liu

10 joint publications

Lindsay C Burrage

8 joint publications

Jennifer E Posey