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

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

  • Israeli Board of Pediatrics 2000
  • TX, Texas Medical License 2005
  • Clinical Genetics (Recertification 2015) 2005
  • MO, Missouri State Board of Registration for the Healing Arts 2009
  • Medical Biochemical Genetics 2009

Honors

  • 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 (106)


  1. 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 
  2. The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. Am J Med Genet A. 2017. PMID:28941052 
  3. Adult-onset dystonia with marfanoid features. Neurol Clin Pract. 2017;7(4):e31-e34. PMCID:PMC5566795  PMID:28840904 
  4. 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 
  5. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017. PMID:28649782 
  6. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. Genet Med. 2017. PMID:28252636 
  7. Support for the Diagnosis of CHARGE Syndrome-Reply. JAMA Otolaryngol Head Neck Surg. 2017. PMID:28241177 
  8. CpG Island Hypermethylation Mediated by DNMT3A Is a Consequence of AML Progression. Cell. 2017;168(5):801-816.e13. PMCID:PMC5328582  PMID:28215704 
  9. 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 
  10. The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications. J Autism Dev Disord. 2016. PMID:27853923 
  11. Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity. Am J Med Genet A. 2016. PMID:27865048 
  12. Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome. JAMA Otolaryngol Head Neck Surg. 2016. PMID:27832265 
  13. cprFBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet. 2016. PMID:27743463 
  14. TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. Nat Genet. 2016. PMID:27668656 
  15. 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 
  16. 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 
  17. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology. 2016;86(10):954-62. doi:10.1212/WNL.0000000000002457  PMID:26865513 
  18. 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 
  19. 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 
  20. 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 
  21. 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 
  22. 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 
  23. 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 
  24. 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 
  25. 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 
  26. 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 
  27. 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 
  28. 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 
  29. 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 
  30. 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 
  31. 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 
  32. Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. Clin Genet. 2014. doi:10.1111/cge.12407  PMID:24738973 
  33. 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 
  34. 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 
  35. 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 
  36. 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 
  37. Molecular and phenotypic characterization of atypical Williams-Beuren syndrome. Clin Genet. 2013. doi:10.1111/cge.12305  PMID:24246242 
  38. 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 
  39. 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 
  40. 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 
  41. 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 
  42. Acute intermittent porphyria: a diagnostic challenge. J Child Neurol. 2012;27(7):917-21. doi:10.1177/0883073811427603  PMID:22190498 
  43. 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 
  44. 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 
  45. 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 
  46. Early-onset hepatic fibrosis in lysinuric protein intolerance. J Pediatr Gastroenterol Nutr. 2011;53(6):695-8. doi:10.1097/MPG.0b013e318227b02d  PMID:21716135 
  47. 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 
  48. 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 
  49. 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 
  50. 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 
  51. 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 
  52. 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 
  53. 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 
  54. Increased homocysteine in a patient diagnosed with Marfan syndrome. Clin Chem. 2010;56(11):1665-8. doi:10.1373/clinchem.2010.147702  PMID:21030686 
  55. 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 
  56. 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 
  57. 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 
  58. 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 
  59. 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 
  60. Progressive myopathy with multiple symmetric lipomatosis. Arch Neurol. 2009;66(12):1576-7. doi:10.1001/archneurol.2009.239  PMID:20008669 
  61. 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 
  62. 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 
  63. 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 
  64. 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 
  65. 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 
  66. 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  PMID:19289393 
  67. The MTHFR 677C-->T polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations. Autism Res. 2009;2(2):98-108. doi:10.1002/aur.70  PMID:19455642 
  68. Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation. Muscle Nerve. 2009;39(3):374-82. doi:10.1002/mus.21157  PMID:19208414 
  69. Is this the Coffin-Siris syndrome or the BOD syndrome? Am J Med Genet A. 2009;149A(3):559-62. doi:10.1002/ajmg.a.32671  PMID:19215055 
  70. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008;40(12):1466-71. doi:10.1038/ng.279  PMCID:PMC2680128  PMID:19029900 
  71. The array CGH and its clinical applications. Drug Discov Today. 2008;13(17-18):760-70. doi:10.1016/j.drudis.2008.06.007  PMID:18617013 
  72. Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q. Blood. 2008;112(4):1042-7. doi:10.1182/blood-2008-01-135970  PMCID:PMC2515126  PMID:18487507 
  73. 15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization. Am J Med Genet A. 2008;146A(15):1933-41. doi:10.1002/ajmg.a.32324  PMID:18561338 
  74. Delineation of the proximal 3q microdeletion syndrome. Am J Med Genet A. 2008;146A(13):1729-35. doi:10.1002/ajmg.a.32292  PMID:18536049 
  75. Low-level mosaicism of trisomy 14: phenotypic and molecular characterization. Am J Med Genet A. 2008;146A(11):1395-405. doi:10.1002/ajmg.a.32287  PMID:18412278 
  76. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet. 2008;40(6):719-21. doi:10.1038/ng.158  PMCID:PMC2705197  PMID:18500341 
  77. Lymphedema of the lower extremity: is it genetic or nongenetic? Clin Pediatr (Phila). 2007;46(9):835-41. doi:10.1177/0009922807303545  PMID:17641125 
  78. Preaxial polydactyly in neurofibromatosis 1. Clin Dysmorphol. 2007;16(3):193-4. doi:10.1097/MCD.0b013e3280e1cc54  PMID:17551336 
  79. Hyperhomocysteinemia and cobalamin disorders. Mol Genet Metab. 2007;90(2):113-21. PMID:17340683 
  80. Multiple ganglion cysts ('cystic ganglionosis'): an unusual presentation in a child. Scand J Rheumatol. 2007;36(2):145-8. doi:10.1080/03009740601089275  PMID:17476622 
  81. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med. 2006;8(8):465-73. doi:10.109701.gim.0000232477.37660.fb  PMID:16912578 
  82. Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol. Am J Med Genet A. 2005;138(1):56-60. doi:10.1002/ajmg.a.30898  PMID:16097001 
  83. Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia. Pediatr Pulmonol. 2005;39(4):374-8. doi:10.1002/ppul.20174  PMID:15666366 
  84. Extensive primary cutaneous herpes simplex virus type 1 infection in an infant following acute rotavirus gastroenteritis. Eur J Pediatr. 2005;164(3):175-6. doi:10.1007/s00431-004-1579-6  PMID:15717179 
  85. No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia. J Med Genet. 2004;41(11):e119. doi:10.1136/jmg.2004.022079  PMCID:PMC1735618  PMID:15520401 
  86. Infantile familial Mediterranean fever. Isr Med Assoc J. 2003;5(10):746-7. PMID:14719476 
  87. Pulmonary manifestations and function tests in children genetically diagnosed with FMF. Pediatr Pulmonol. 2003;35(6):452-5. doi:10.1002/ppul.10270  PMID:12746942 
  88. Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease. Pediatr Neurol. 2003;28(5):385-91. PMID:12878302 
  89. The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum. 2003;48(4):1149-55. doi:10.1002/art.10944  PMID:12687559 
  90. Male sex coupled with articular manifestations cause a 4-fold increase in susceptibility to amyloidosis in patients with familial Mediterranean fever homozygous for the M694V-MEFV mutation. J Rheumatol. 2003;30(2):308-12. PMID:12563686 
  91. Crouzon syndrome: association with absent pulmonary valve syndrome and severe tracheobronchomalacia. Pediatr Pulmonol. 2002;34(6):478-81. doi:10.1002/ppul.10176  PMID:12422346 
  92. Familial Mediterranean fever: the segregation of four different mutations in 13 individuals from one inbred family: genotype-phenotype correlation and intrafamilial variability. Am J Med Genet. 2002;109(3):198-201. doi:10.1002/ajmg.10352  PMID:11977178 
  93. The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Eur J Hum Genet. 2002;10(2):145-9. doi:10.1038/sj.ejhg.5200776  PMID:11938447 
  94. Familial Mediterranean fever: prevalence, penetrance and genetic drift. Eur J Hum Genet. 2001;9(8):634-7. doi:10.1038/sj.ejhg.5200672  PMID:11528510 
  95. Gastrointestinal tract cytomegalovirus infection with prolonged vomiting and fever in an immunocompetent child. Isr Med Assoc J. 2001;3(8):621-3. PMID:11519392 
  96. The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease. Arthritis Rheum. 2001;44(6):1416-9. doi:10.1002/1529-0131(200106)44:6<1416::AID-ART236>3.0.CO;2-6  PMID:11407703 
  97. Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain. J Pediatr. 2001;138(5):759-62. doi:10.1067/mpd.2001.113357  PMID:11343058 
  98. Fulminant hepatitis associated with Schistosoma mansoni. J Pediatr Gastroenterol Nutr. 2001;32(5):605-7. PMID:11429526 
  99. Neurodevelopmental delay associated with nonconvulsive status epilepticus in a toddler. J Child Neurol. 2001;16(3):215-7. PMID:11305690 
  100. Familial Mediterranean fever: high gene frequency and heterogeneous disease among an Israeli-Arab population. J Rheumatol. 2000;27(6):1492-5. PMID:10852276 
  101. [Marfan's syndrome]. Harefuah. 2000;138(7):598-603. PMID:10883194 
  102. [Abetalipoproteinemia]. Harefuah. 1999;137(1-2):35-8. PMID:10959274 
  103. Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients. Pediatrics. 1999;103(5):e70. PMID:10224214 
  104. Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis. Mutation in brief no. 257. Online. Hum Mutat. 1999;14(1):91. doi:10.1002/(SICI)1098-1004(1999)14:1<91::AID-HUMU21>3.0.CO;2-B  PMID:10447272 
  105. CSF levels of carnitine in children with meningitis, neurologic disorders, acute gastroenteritis, and seizure. Neurology. 1998;50(6):1869-71. PMID:9633746 
  106. [Carnitine and the central nervous system--new aspects]. Harefuah. 1997;132(2):130-2. PMID:9119298 
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