Associate Professor, Pediatrics, Washington University in St. Louis School of Medicine
Medical Genetics
Dr. Marwan S. Shinawi, MD
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Marwan Shinawi practices Medical Genetics. He studied medicine at Baylor College of Medicine. Marwan Shinawi has written publications. He has 60 publications published with PubMed. The lastest paper is: 'Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.'
Publications
- Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.
- Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
- WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdel...
- Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.
- FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.
- TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
- Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
- Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.
- Autosomal Recessive Posterior Column Ataxia with Retinitis Pigmentosa Caused by Novel Mutations in the FLVCR1 gene.
- Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.
- Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.
- Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.
- Transient Massive Trimethylaminuria Associated with Food Protein-Induced Enterocolitis Syndrome.
- Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
- Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations across three generations.
- NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.
- Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome.
- Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy.
- Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient.
- Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
- Early-onset hepatic fibrosis in lysinuric protein intolerance.
- Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
- 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.
- Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
- Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome.
- Increased homocysteine in a patient diagnosed with Marfan syndrome.
- Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia.
- McCune-Albright syndrome presenting with unilateral macroorchidism and bilateral testicular masses.
- Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter?
- Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
- Progressive myopathy with multiple symmetric lipomatosis.
- Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
- A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
- Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
- Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
- The MTHFR 677C-->T polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations.
- The Xp contiguous deletion syndrome and autism.
- Is this the Coffin-Siris syndrome or the BOD syndrome?
- Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.
- Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
- The array CGH and its clinical applications.
- 15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization.
- Delineation of the proximal 3q microdeletion syndrome.
- Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
- Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.
- Low-level mosaicism of trisomy 14: phenotypic and molecular characterization.
- Lymphedema of the lower extremity: is it genetic or nongenetic?
- Preaxial polydactyly in neurofibromatosis 1.
- Hyperhomocysteinemia and cobalamin disorders.
- A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome).
- Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol.
- Extensive primary cutaneous herpes simplex virus type 1 infection in an infant following acute rotavirus gastroenteritis.
- Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia.
- Infantile familial Mediterranean fever.
- Pulmonary manifestations and function tests in children genetically diagnosed with FMF.
- Male sex coupled with articular manifestations cause a 4-fold increase in susceptibility to amyloidosis in patients with familial Mediterranean fever homozygous for th...
- Crouzon syndrome: association with absent pulmonary valve syndrome and severe tracheobronchomalacia.
- Familial Mediterranean fever: the segregation of four different mutations in 13 individuals from one inbred family: genotype-phenotype correlation and intrafamilial va...
- The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever.
Schools
Technion Israel Institute Of Technology
Rambam Med Center
Baylor College Of Med
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Medical Biochemical Genetics
- Medical Genetics
Accepted Insurances
- Cigna HMO
- Cigna PPO
- Great West Healthcare-Cigna PPO
- LocalPlus
- Open Access Plus
- Health and Life PPO
- Coventry Health Care of Kansas, Inc. PPO
- Coventry Health Care of Missouri PPO
- Homestate Health Plan
- Choice Care PPO
- Medicaid
- Medicare MCR
- Molina
- MultiPlan PPO
- PHCS Network PPO
- Choice Plus POS
- Navigate HMO
- Navigate POS
- Options PPO
- United Healthcare
Education
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Baylor College of Medicine
Hospital
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St. Louis Children's Hospital -
Barnes-Jewish Hospital
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