Marwan S. Shinawi

Medical Genetics | Pediatrics

13001 N Outer 40 Rd
2e St Louis Childrens Specialty Care Center
Town And Country, MO 63017

Last Updated: 09/26/2026

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Found 149 publications

Complementary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome.

Complementary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome.

Journal: eLife

Published: September 03, 2026

Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature.

Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature.

Journal: Epilepsia open

Published: October 25, 2025

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: July 31, 2025

RAD51 -Related Fanconi Anemia: Expanding the Phenotypic Spectrum and Strong Association With VACTERL.

RAD51 -Related Fanconi Anemia: Expanding the Phenotypic Spectrum and Strong Association With VACTERL.

Journal: Clinical genetics

Published: July 28, 2025

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Journal: HGG advances

Published: January 14, 2025

Atypical Presentation of IARS1-Related Disorder: Expanding the Phenotype and Genotype.

Atypical Presentation of IARS1-Related Disorder: Expanding the Phenotype and Genotype.

Journal: JIMD reports

Published: December 16, 2024

Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency.

Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency.

Journal: JIMD reports

Published: December 13, 2024

The DESSH Clinic: A New Multidisciplinary Clinic to Address the Complex Needs of Individuals with a Rare Genetic Disorder.

The DESSH Clinic: A New Multidisciplinary Clinic to Address the Complex Needs of Individuals with a Rare Genetic Disorder.

Journal: Missouri medicine

Published: November 22, 2024

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

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

Journal: Neurology

Published: November 15, 2024

Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.

Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.

Journal: Molecular genetics and metabolism

Published: August 14, 2024

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 07, 2024

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: Research square

Published: June 21, 2024

Showing 1-12 of 149

Last Updated: 09/26/2026