Marwan Shinawi, M.D.  mshinawi@wustl.edu

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Professor of Pediatrics, Division of Genetics and Genomic Medicine
Genetics and Genomic Medicine

phone: (314) 454-6093

Clinical Interests

I am a clinical genetic specialist. My focus is on genetic skeletal dysplasia and bone diseases, congenital malformation syndromes, chromosomal disorders, microarray analysis, whole exome sequencing, autistic spectrum disorders, metabolic disorders, newborn screen for inborn error of metabolism.

Education

  • BS, Cum Laude , Hebrew University of Jerusalem1989
  • MD, Summa Cum Laude, Technion-Faculty of Medicine 1996

Training

  • Residency, Rambam Medical Center1996 - 2000
  • Post Doc, Baylor College of Medicine2001 - 2002
  • Fellowship, Baylor College of Medicine2003 - 2005

Licensure and Board Certification

  • 2000 - PresIsraeli Board of Pediatrics
  • 2005 - 2009TX, Texas Medical License
  • 2005 - PresClinical Genetics (Recertification 2015)
  • 2009 - PresMO, Missouri State Board of Registration for the Healing Arts
  • 2009 - PresMedical Biochemical Genetics

Honors and Awards

  • B.Sc. in Biology (Cum Laude)1990
  • Dean's Award in faculty of medicine1990
  • Dean's Award in faculty of medicine1991
  • Dean's Award in faculty of medicine1992
  • M.D. Diploma (Summa Cum Laude)1996
  • M.D. Thesis (Cum Laude)1996
  • Outstanding tutor of medical students in pediatrics1998
  • Board Examination in Pediatrics (Cum Laude)2000
  • Cure Autism Now Young Investigator Award2005 - 2007
  • The Simons Young Investigator Award at Columbia University2005 - 2007
  • K12 award-Child Health Research Center (Baylor College of Medicine)2007 - 2008

Recent Publications view all (135)


  1. Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities. Clin Genet. 2019. PMID:31721175 
  2. Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes. Eur J Med Genet. 2019;103736. PMID:31422286 
  3. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nat Commun. 2019;10(1):3094. PMID:31300657 
  4. De novo substitutions of TRPM3 cause intellectual disability and epilepsy. Eur J Hum Genet. 2019. PMID:31278393 
  5. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genet Med. 2019. PMID:31239556 
  6. 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. Front Neurosci. 2019;13:394. PMCID:PMC6517487  PMID:31133775 
  7. A mutation in Site-1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema. Mol Genet Genomic Med. 2019;e733. PMID:31070020 
  8. A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. Neurogenetics. 2019. PMID:31041561 
  9. Variants in DOCK3 cause developmental delay and hypotonia. Eur J Hum Genet. 2019. PMID:30976111 
  10. Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics. 2019;11(1):60. PMCID:PMC6454695  PMID:30961659 
  11. Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet. 2019. PMID:30982611 
  12. Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency. Bone. 2019;124:14-21. doi:10.1016/j.bone.2019.03.029  PMCID:PMC6551519  PMID:30914273 
  13. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. Am J Hum Genet. 2019. PMID:30827498 
  14. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. Genet Med. 2019. doi:10.1038/s41436-019-0454-9  PMID:30739909 
  15. Birth Defects Among 788 Children Born to Gulf War Veterans Based on Physical Examination. J Occup Environ Med. 2018. PMID:30489351 
  16. Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes. Bone. 2018;120:354-363. PMID:30448303 
  17. Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy. Neurology. 2018;91(20):938-941. PMID:30420458 
  18. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Hum Mutat. 2018. PMID:30157302 
  19. Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic. J Pediatr Hematol Oncol. 2018. PMID:30028825 
  20. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. Am J Hum Genet. 2018. PMID:30057029 
  21. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain. 2018. PMID:29985992 
  22. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene. Brain. 2018. PMID:29878067 
  23. Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. Pediatr Res. 2018. PMID:29967526 
  24. Inherited Deletion of 1q, Hyperparathyroidism, and Signs of Y-Chromosomal Influence in a Patient with Turner Syndrome. J Clin Res Pediatr Endocrinol. 2018. PMID:29739732 
  25. DeSanto-Shinawi Syndrome: First Case in South America. Mol Syndromol. 2018;9(3):154-158. PMCID:PMC6006642  PMID:29928181 
  26. Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities. Mol Genet Genomic Med. 2018. PMID:29397573 
  27. Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5). Bone. 2018;107:161-171. PMID:29175271 
  28. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2017. PMID:29276006 
  29. Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). Hum Mutat. 2017;38(11):1477-1484. PMCID:PMC5638693  PMID:28726266 
  30. CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature. Child Neurol Open. 2017;4:2329048X17733214. PMCID:PMC5638153  PMID:29051910 
  31. The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. Am J Med Genet A. 2017. PMID:28941052 
  32. Adult-onset dystonia with marfanoid features. Neurol Clin Pract. 2017;7(4):e31-e34. PMCID:PMC5566795  PMID:28840904 
  33. CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med. 2017;19(8):962. PMID:28777376 
  34. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017. PMID:28649782 
  35. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. Genet Med. 2017. PMID:28252636 
  36. Support for the Diagnosis of CHARGE Syndrome-Reply. JAMA Otolaryngol Head Neck Surg. 2017. PMID:28241177 
  37. CpG Island Hypermethylation Mediated by DNMT3A Is a Consequence of AML Progression. Cell. 2017;168(5):801-816.e13. PMCID:PMC5328582  PMID:28215704