Marwan Shinawi

28PUBLICATIONS
148CO-AUTHORS
Neurology and neuromuscular diseasesArtificial life and complex adaptive systemsMedical molecular engineering of nucleic acids and proteinsGenome structure and regulationGene expression (incl. microarray and other genome-wide approaches)
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Publications (28)

|Jan 28, 2026
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

Céline Jost, Tiffany Busa, Daniel Wegner

|May 14, 2025
Atypical Presentation of <i>IARS1</i>-Related Disorder: Expanding the Phenotype and Genotype.

Parith Wongkittichote, Kira E Jonatzke, Benjamin T Hyde

|May 07, 2025
Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency.

Angela Lee, Judith Weisenberg, Elizabeth Toolan

|Nov 15, 2024
Child Neurology: Five-Year Update on Siblings With Riboflavin Transporter Deficiency: Stable Visual and Neurologic Status With Continued Riboflavin Therapy.

Marisa A O'Brien, Susan M Culican, Marwan S Shinawi

|Sep 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh

|Jun 21, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Hellen Lesmann, Alexander Hustinx, Shahida Moosa

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Frequent Collaborators

3 joint publications

Theresa Brunet

2 joint publications

Parith Wongkittichote

2 joint publications

Sofia Douzgou Houge

2 joint publications

Tianyun Wang