Marwan Shinawi, M.D.

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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.


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


  • 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 (133)

  1. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nat Commun. 2019;10(1):3094. PMID:31300657 
  2. De novo substitutions of TRPM3 cause intellectual disability and epilepsy. Eur J Hum Genet. 2019. PMID:31278393 
  3. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genet Med. 2019. PMID:31239556 
  4. 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 
  5. 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 
  6. A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. Neurogenetics. 2019. PMID:31041561 
  7. Variants in DOCK3 cause developmental delay and hypotonia. Eur J Hum Genet. 2019. PMID:30976111 
  8. Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics. 2019;11(1):60. PMCID:PMC6454695  PMID:30961659 
  9. Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet. 2019. PMID:30982611 
  10. 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 
  11. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. Am J Hum Genet. 2019. PMID:30827498 
  12. 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 
  13. Birth Defects Among 788 Children Born to Gulf War Veterans Based on Physical Examination. J Occup Environ Med. 2018. PMID:30489351 
  14. Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes. Bone. 2018;120:354-363. PMID:30448303 
  15. Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy. Neurology. 2018;91(20):938-941. PMID:30420458 
  16. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Hum Mutat. 2018. PMID:30157302 
  17. Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic. J Pediatr Hematol Oncol. 2018. PMID:30028825 
  18. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. Am J Hum Genet. 2018. PMID:30057029 
  19. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain. 2018. PMID:29985992 
  20. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene. Brain. 2018. PMID:29878067 
  21. Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. Pediatr Res. 2018. PMID:29967526 
  22. 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 
  23. DeSanto-Shinawi Syndrome: First Case in South America. Mol Syndromol. 2018;9(3):154-158. PMCID:PMC6006642  PMID:29928181 
  24. 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 
  25. Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5). Bone. 2018;107:161-171. PMID:29175271 
  26. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2017. PMID:29276006 
  27. 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 
  28. CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature. Child Neurol Open. 2017;4:2329048X17733214. PMCID:PMC5638153  PMID:29051910 
  29. The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. Am J Med Genet A. 2017. PMID:28941052 
  30. Adult-onset dystonia with marfanoid features. Neurol Clin Pract. 2017;7(4):e31-e34. PMCID:PMC5566795  PMID:28840904 
  31. 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 
  32. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017. PMID:28649782 
  33. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. Genet Med. 2017. PMID:28252636 
  34. Support for the Diagnosis of CHARGE Syndrome-Reply. JAMA Otolaryngol Head Neck Surg. 2017. PMID:28241177 
  35. CpG Island Hypermethylation Mediated by DNMT3A Is a Consequence of AML Progression. Cell. 2017;168(5):801-816.e13. PMCID:PMC5328582  PMID:28215704 
  36. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. J Clin Endocrinol Metab. 2017;102(2):460-469. PMCID:PMC5413162  PMID:27870580 
  37. The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications. J Autism Dev Disord. 2016. PMID:27853923 
  38. Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity. Am J Med Genet A. 2016. PMID:27865048 
  39. Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome. JAMA Otolaryngol Head Neck Surg. 2016. PMID:27832265 
  40. cprFBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet. 2016. PMID:27743463 
  41. TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. Nat Genet. 2016. PMID:27668656 
  42. A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. Neurogenetics. 2016. doi:10.1007/s10048-016-0482-4  PMID:27094857 
  43. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med. 2016. doi:10.1038/gim.2016.18  PMID:26986877 
  44. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology. 2016;86(10):954-62. doi:10.1212/WNL.0000000000002457  PMID:26865513 
  45. Multigenerational autosomal dominant inheritance of 5p chromosomal deletions. Am J Med Genet A. 2016;170(3):583-93. doi:10.1002/ajmg.a.37445  PMID:26601658 
  46. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016;98(2):347-57. doi:10.1016/j.ajhg.2015.12.008  PMCID:PMC4746334  PMID:26805781 
  47. Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. J Med Genet. 2015;52(9):627-35. doi:10.1136/jmedgenet-2015-103140  PMID:26185144 
  48. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. J Med Genet. 2015. doi:10.1136/jmedgenet-2015-103069  PMID:26264232 
  49. A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations. J Biol Chem. 2015;290(26):16132-41. doi:10.1074/jbc.M115.656496  PMCID:PMC4481214  PMID:25953895 
  50. Digynic triploidy: utility and challenges of noninvasive prenatal testing. Clin Case Rep. 2015;3(6):406-10. doi:10.1002/ccr3.247  PMCID:PMC4498852  PMID:26185638 
  51. De novo mutations in SIK1 cause a spectrum of developmental epilepsies. Am J Hum Genet. 2015;96(4):682-90. doi:10.1016/j.ajhg.2015.02.013  PMCID:PMC4385182  PMID:25839329 
  52. Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations. Am J Med Genet A. 2015. doi:10.1002/ajmg.a.36889  PMID:25707956 
  53. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med. 2015;372(4):341-50. doi:10.1056/NEJMoa1406829  PMCID:PMCID: PMC4326244  PMID:25564734 
  54. A 5-month-old boy with delay in growth and development and decreased muscle tone. Clin Chem. 2015;61(1):50-4. doi:10.1373/clinchem.2014.228486  PMID:25550475 
  55. Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet. 2014;95(5):565-78. doi:10.1016/j.ajhg.2014.10.006  PMCID:PMC4225592  PMID:25439725 
  56. FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. Skeletal Radiol. 2014. doi:10.1007/s00256-014-1983-6  PMCID:In Process  PMID:25119967 
  57. Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication. Am J Med Genet A. 2014;164(8):2003-12. doi:10.1002/ajmg.a.36605  PMCID:In process  PMID:24891046 
  58. Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. Int J Neurosci. 2014. doi:10.3109/00207454.2014.904858  PMCID:In Process  PMID:24628582 
  59. Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. Clin Genet. 2014. doi:10.1111/cge.12407  PMID:24738973 
  60. Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. Gene. 2014;537(2):279-84. doi:10.1016/j.gene.2013.12.045  PMID:24378232 
  61. Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations across three generations. Pediatr Pulmonol. 2014;49(2):E13-6. doi:10.1002/ppul.22731  PMID:23460419 
  62. Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. Am J Med Genet A. 2014;164A(5):1118-1126. doi:10.1002/ajmg.a.36401  PMCID:in Process  PMID:24458548 
  63. Transient massive trimethylaminuria associated with food protein-induced enterocolitis syndrome. JIMD Rep. 2014;12:11-5. doi:10.1007/8904_2013_238  PMCID:PMC3897788  PMID:23821320 
  64. Molecular and phenotypic characterization of atypical Williams-Beuren syndrome. Clin Genet. 2013. doi:10.1111/cge.12305  PMID:24246242 
  65. Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions. Am J Med Genet A. 2013;161(4):711-6. doi:10.1002/ajmg.a.35779  PMID:23494996 
  66. NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. Am J Med Genet A. 2013;161A(2):377-81. doi:10.1002/ajmg.a.35650  PMID:23300014 
  67. Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome. Am J Med Genet A. 2013;161A(1):137-44. doi:10.1002/ajmg.a.35701  PMID:23239491 
  68. Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome. Am J Med Genet A. 2012;158A(10):2602-5. doi:10.1002/ajmg.a.35566  PMCID:PMC3448824  PMID:22965764 
  69. Acute intermittent porphyria: a diagnostic challenge. J Child Neurol. 2012;27(7):917-21. doi:10.1177/0883073811427603  PMID:22190498 
  70. ADULT syndrome due to an R243W mutation in TP63. Int J Dermatol. 2012;51(6):693-6. doi:10.1111/j.1365-4632.2011.05375.x  PMID:22607287 
  71. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A. 2012;109(21):7974-81. doi:10.1073/pnas.1120210109  PMCID:PMC3361440  PMID:22566635 
  72. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012;33(1):165-79. doi:10.1002/humu.21614  PMID:21948486 
  73. Early-onset hepatic fibrosis in lysinuric protein intolerance. J Pediatr Gastroenterol Nutr. 2011;53(6):695-8. doi:10.1097/MPG.0b013e318227b02d  PMID:21716135 
  74. Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient. Pediatrics. 2011;128(6):e1636-40. doi:10.1542/peds.2010-3518  PMID:22065268 
  75. Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. Am J Med Genet A. 2011;155A(7):1597-604. doi:10.1002/ajmg.a.34040  PMID:21671375 
  76. 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. Am J Med Genet A. 2011;155A(6):1272-80. doi:10.1002/ajmg.a.33878  PMID:21567907 
  77. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011;20(10):1975-88. doi:10.1093/hmg/ddr078  PMCID:PMC3080608  PMID:21355048 
  78. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med. 2011;13(2):95-101. doi:10.1097/GIM.0b013e3181fea459  PMID:21150784 
  79. Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. Eur J Hum Genet. 2011;19(2):152-6. doi:10.1038/ejhg.2010.168  PMCID:PMC3025795  PMID:20959866 
  80. McCune-Albright syndrome presenting with unilateral macroorchidism and bilateral testicular masses. Pediatr Radiol. 2010;40 Suppl 1:S16-20. doi:10.1007/s00247-010-1762-z  PMID:20607225 
  81. Increased homocysteine in a patient diagnosed with Marfan syndrome. Clin Chem. 2010;56(11):1665-8. doi:10.1373/clinchem.2010.147702  PMID:21030686 
  82. Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy. J Perinatol. 2010;30(8):558-62. doi:10.1038/jp.2009.198  PMID:20668464 
  83. Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter? Am J Med Genet A. 2010;152A(7):1832-7. doi:10.1002/ajmg.a.33475  PMID:20583182 
  84. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat. 2010;31(7):840-50. doi:10.1002/humu.21284  PMCID:PMC3162316  PMID:20506139 
  85. Mitochondrial neurogastrointestinal encephalopathy without elevated thymidine levels. Arch Neurol. 2010;67(5):644; author reply 644-5. doi:10.1001/archneurol.2010.73  PMID:20457971 
  86. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010;47(5):332-41. doi:10.1136/jmg.2009.073015  PMCID:PMC3158566  PMID:19914906 
  87. Progressive myopathy with multiple symmetric lipomatosis. Arch Neurol. 2009;66(12):1576-7. doi:10.1001/archneurol.2009.239  PMID:20008669 
  88. A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet. 2009;41(12):1269-71. doi:10.1038/ng.481  PMCID:PMC3158565  PMID:19898479 
  89. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009;46(12):825-33. doi:10.1136/jmg.2009.067637  PMID:19584063 
  90. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol. 2009;66(8):1028-32. doi:10.1001/archneurol.2009.139  PMCID:PMC2747647  PMID:19667227 
  91. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009;41(7):829-32. doi:10.1038/ng.373  PMID:19525956 
  92. The Xp contiguous deletion syndrome and autism. Am J Med Genet A. 2009;149A(6):1138-48. doi:10.1002/ajmg.a.32833  PMID:19441126 
  93. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet. 2009;46(6):382-8. doi:10.1136/jmg.2008.064378  PMCID:PMC2776649