Marwan shinawi

Professor

Washington University in Saint Louis School of Medicine

United States

Research Interests

Explore related searches

Professors in United States Professors in Medical Science Medical Science professors in United States

Contact this professor

Get a free first email built on one of their papers, ready for you to edit and send yourself.

About

Professor Marwan Shinawi is a faculty member at Washington University School of Medicine in St. Louis, USA. His research encompasses various areas including clinical and molecular characterization of neurological disorders, immunodeficiencies, and genetic mutations linked to myopathy. He has contributed to significant advancements in understanding diseases such as Riboflavin Transporter Deficiency and DNMT3A Overgrowth Syndrome through his recent publications. Professor Shinawi's ongoing work aims to broaden the phenotypic and genotypic spectra of rare genetic conditions.

Articles (15)

Year:

2024

Year:

2023

Year:

2023

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Collaborators (17)

Alicia Bach

Assistant Professor

University of Missouri

UNITED STATES

Marwan shinawi

Research Interests

Explore related searches

Contact this professor

About

Articles (15)

Child Neurology: Five-Year Update on Siblings With Riboflavin Transporter Deficiency

Case report: ocular manifestations of a gain-of-function mutation in CLCN6, a newly diagnosed disease

DDOST‐CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype

Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function

Wilms tumor in patients with osteopathia striata with cranial sclerosis

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra

A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)

Biallelic variants in RNU12 cause CDAGS syndrome

Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (Genetics in Medicine, (2021), 23, 4, (653-660), 10.1038/s41436-020-01020-w)

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype

Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis

Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome

Collaborators (17)

Alicia Bach

David Markie

Richard H. van Jaarsveld

Robert McKinstry

Mohamad Mikati

Eva Trevisson

Matthew Demczko

Joseph Harrison

Peggy L. Kendall

V. Koneti Rao

Tomi Toler

Richard Wang

Cheryl Hill

Patricia Dickson

Ina Amarillo

Michael Rettig

Matthew Hunter

Make your next move.