All Stories

  1. Primary Mitochondrial Disorders in the Neonate

    Article • NeoReviews, December 2022, American Academy of Pediatrics (AAP)

    Dr Marwan Shinawi

  2. Tumor predisposition: what's the skin got to do with it?

    Article • Current Opinion in Pediatrics, August 2022, Wolters Kluwer Health

    Dr Marwan Shinawi

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

    Article • Neurology Genetics, August 2021, Wolters Kluwer Health

    Dr Marwan Shinawi

  4. Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome

    Article • Neurology Genetics, February 2021, Wolters Kluwer Health

    Dr Marwan Shinawi

  5. Response to Mounts and Besser

    Article • Genetics in Medicine, January 2021, Elsevier

    Dr Marwan Shinawi

  6. Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

    Article • Journal of Medical Genetics, March 2020, BMJ

    Dr Marwan Shinawi

  7. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

    Article • Human Mutation, September 2018, Wiley

    Dr Marwan Shinawi

  8. Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities

    Article • Molecular Genetics & Genomic Medicine, February 2018, Wiley

    Dr Marwan Shinawi

  9. DeSanto-Shinawi Syndrome: First Case in South America

    Article • Molecular Syndromology, January 2018, Karger Publishers

    Dr Marwan Shinawi

  10. Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN )

    Article • Human Mutation, August 2017, Wiley

    Dr Marwan Shinawi

  11. Heterozygous variants in ACTL6A , encoding a component of the BAF complex, are associated with intellectual disability

    Article • Human Mutation, July 2017, Wiley

    Dr Marwan Shinawi, Dr Philippe M Campeau

  12. FBXL4defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome

    Article • Clinical Genetics, January 2017, Wiley

    Dr Marwan Shinawi

  13. Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations

    Article • The Journal of Clinical Endocrinology & Metabolism, November 2016, Endocrine Society

    Professor Alexander A L Jorge, Dr Marwan Shinawi, MD Stephen H LaFranchi, Mrs Alexandra Gkourogianni, Andrew Dauber

  14. Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity

    Article • American Journal of Medical Genetics Part A, November 2016, Wiley

    Dr Marwan Shinawi

  15. Digynic triploidy: utility and challenges of noninvasive prenatal testing

    Article • Clinical Case Reports, April 2015, Wiley

    Dr Marwan Shinawi

  16. Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations

    Article • American Journal of Medical Genetics Part A, February 2015, Wiley

    Dr Marwan Shinawi

  17. Fatty Acid Metabolism and Defects

    Article • October 2014, Oxford University Press (OUP)

    Dr Marwan Shinawi

  18. FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met

    Article • Skeletal Radiology, August 2014, Springer Science + Business Media

    Dr Marwan Shinawi

  19. Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

    Article • American Journal of Medical Genetics Part A, May 2014, Wiley

    Dr Marwan Shinawi

  20. Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes

    Article • Clinical Genetics, May 2014, Wiley

    Dr Marwan Shinawi

  21. Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in theFLVCR1gene

    Article • International Journal of Neuroscience, May 2014, Taylor & Francis

    Dr Marwan Shinawi

  22. Autism Spectrum Disorders

    Article • May 2014, Oxford University Press (OUP)

    Dr Marwan Shinawi

  23. Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case

    Article • Gene, March 2014, Elsevier

    Dr Marwan Shinawi

  24. Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement

    Article • American Journal of Medical Genetics Part A, January 2014, Wiley

    Dr Marwan Shinawi

  25. Molecular and phenotypic characterization of atypical Williams–Beuren syndrome

    Article • Clinical Genetics, November 2013, Wiley

    Dr Marwan Shinawi

  26. Correction: Corrigendum: Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

    Article • Genetics in Medicine, October 2013, Elsevier

    Dr Marwan Shinawi

  27. Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions

    Article • American Journal of Medical Genetics Part A, March 2013, Wiley

    Dr Marwan Shinawi

  28. Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations across three generations

    Article • Pediatric Pulmonology, March 2013, Wiley

    Dr Marwan Shinawi

  29. NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay

    Article • American Journal of Medical Genetics Part A, January 2013, Wiley

    Dr Marwan Shinawi

  30. Transient Massive Trimethylaminuria Associated with Food Protein–Induced Enterocolitis Syndrome

    Article • JIMD Reports, January 2013, Springer Science + Business Media

    Dr Marwan Shinawi

  31. Duplication of 20p12.3 associated with familial Wolff–Parkinson–White syndrome

    Article • American Journal of Medical Genetics Part A, December 2012, Wiley

    Dr Marwan Shinawi

  32. Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome

    Article • American Journal of Medical Genetics Part A, September 2012, Wiley

    Dr Marwan Shinawi

  33. ADULT syndrome due to an R243W mutation in TP63

    Article • International Journal of Dermatology, May 2012, Wiley

    Dr Marwan Shinawi

  34. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

    Article • Proceedings of the National Academy of Sciences, May 2012, Proceedings of the National Academy of Sciences

    Dr Marwan Shinawi

  35. Acute Intermittent Porphyria

    Article • Journal of Child Neurology, December 2011, SAGE Publications

    Dr Marwan Shinawi

  36. Early‐onset Hepatic Fibrosis in Lysinuric Protein Intolerance

    Article • Journal of Pediatric Gastroenterology and Nutrition, December 2011, Wiley

    Dr Marwan Shinawi, Dennis Dietzen

  37. Cobalamin F Disease Detected by Newborn Screening and Follow-up on a 14-Year-Old Patient

    Article • PEDIATRICS, November 2011, American Academy of Pediatrics (AAP)

    Dr Marwan Shinawi

  38. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

    Article • Human Mutation, November 2011, Hindawi Publishing Corporation

    Dr Marwan Shinawi

  39. Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature

    Article • American Journal of Medical Genetics Part A, June 2011, Wiley

    Dr Marwan Shinawi

  40. 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity

    Article • American Journal of Medical Genetics Part A, May 2011, Wiley

    Dr Marwan Shinawi

  41. Known and Possible Roles of Epigenetics in Autism

    Article • May 2011, Oxford University Press (OUP)

    Dr Marwan Shinawi

  42. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

    Article • Human Molecular Genetics, February 2011, Oxford University Press (OUP)

    Dr Marwan Shinawi

  43. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

    Article • Genetics in Medicine, February 2011, Elsevier

    Dr Marwan Shinawi

  44. Increased Homocysteine in a Patient Diagnosed with Marfan Syndrome

    Article • Clinical Chemistry, November 2010, Oxford University Press (OUP)

    Dr Marwan Shinawi, Dennis Dietzen

  45. Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

    Article • European Journal of Human Genetics, October 2010, Springer Science + Business Media

    Dr Marwan Shinawi

  46. Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy

    Article • Journal of Perinatology, July 2010, Springer Science + Business Media

    Dr Marwan Shinawi

  47. McCune-Albright syndrome presenting with unilateral macroorchidism and bilateral testicular masses

    Article • Pediatric Radiology, July 2010, Springer Science + Business Media

    Dr Marwan Shinawi

  48. Mixed gonadal dysgenesis in a child with isodicentric y chromosome: Does the relative proportion of the 45,X line really matter?

    Article • American Journal of Medical Genetics Part A, June 2010, Wiley

    Dr Marwan Shinawi

  49. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

    Article • Human Mutation, May 2010, Hindawi Publishing Corporation

    Dr Marwan Shinawi

  50. 114 Expanding clinical spectrum of RRM2B mutations to include MNGIE

    Article • Mitochondrion, March 2010, Elsevier

    Dr Marwan Shinawi

  51. Progressive Myopathy With Multiple Symmetric Lipomatosis

    Article • Archives of Neurology, December 2009, American Medical Association (AMA)

    Dr Marwan Shinawi

  52. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

    Article • Journal of Medical Genetics, November 2009, BMJ

    Dr Marwan Shinawi

  53. A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

    Article • Nature Genetics, November 2009, Springer Science + Business Media

    Dr Marwan Shinawi

  54. Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B

    Article • Archives of Neurology, August 2009, American Medical Association (AMA)

    Dr Marwan Shinawi

  55. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

    Article • Journal of Medical Genetics, July 2009, BMJ

    Dr Marwan Shinawi

  56. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

    Article • Nature Genetics, June 2009, Springer Science + Business Media

    Dr Marwan Shinawi, Professor Lieven Lagae, Professor Michael McDermott

  57. The Xp contiguous deletion syndrome and autism

    Article • American Journal of Medical Genetics Part A, May 2009, Wiley

    Dr Marwan Shinawi

  58. The MTHFR 677C→T polymorphism and behaviors in children with autism: exploratory genotype–phenotype correlations

    Article • Autism Research, March 2009, Wiley

    Dr Marwan Shinawi

  59. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

    Article • Journal of Medical Genetics, March 2009, BMJ

    Dr Marwan Shinawi

  60. Is this the Coffin–Siris syndrome or the BOD syndrome?

    Article • American Journal of Medical Genetics Part A, February 2009, Wiley

    Dr Marwan Shinawi

  61. Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation

    Article • Muscle & Nerve, February 2009, Wiley

    Dr Marwan Shinawi

  62. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

    Article • Nature Genetics, November 2008, Springer Science + Business Media

    Dr Marwan Shinawi

  63. The array CGH and its clinical applications

    Article • Drug Discovery Today, September 2008, Elsevier

    Dr Marwan Shinawi

  64. 15q13q14 deletions: Phenotypic characterization and molecular delineation by comparative genomic hybridization

    Article • American Journal of Medical Genetics Part A, June 2008, Wiley

    Dr Marwan Shinawi

  65. Delineation of the proximal 3q microdeletion syndrome

    Article • American Journal of Medical Genetics Part A, June 2008, Wiley

    Dr Marwan Shinawi

  66. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

    Article • Nature Genetics, May 2008, Springer Science + Business Media

    Dr Marwan Shinawi

  67. Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q

    Article • Blood, May 2008, American Society of Hematology

    Dr Marwan Shinawi

  68. Low‐level mosaicism of trisomy 14: Phenotypic and molecular characterization

    Article • American Journal of Medical Genetics Part A, April 2008, Wiley

    Dr Marwan Shinawi

  69. 29 Clinical benefit of enzyme replacement therapy (ERT) in mucopolysaccharidosis II (MPS II, Hunter syndrome)

    Article • Molecular Genetics and Metabolism, December 2007, Elsevier

    Dr Marwan Shinawi

  70. 39 Formation of a Lysosomal Disease Testing Network to enhance the delivery of diagnostic services to patients with lysosomal storage disorders

    Article • Molecular Genetics and Metabolism, December 2007, Elsevier

    Dr Marwan Shinawi

  71. Lymphedema of the Lower Extremity: Is It Genetic or Nongenetic?

    Article • Clinical Pediatrics, November 2007, SAGE Publications

    Dr Marwan Shinawi

  72. Preaxial polydactyly in neurofibromatosis 1

    Article • Clinical Dysmorphology, July 2007, Wolters Kluwer Health

    Dr Marwan Shinawi

  73. Multiple ganglion cysts (‘cystic ganglionosis’): an unusual presentation in a child

    Article • Scandinavian Journal of Rheumatology, January 2007, Taylor & Francis

    Dr Marwan Shinawi

  74. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

    Article • Genetics in Medicine, August 2006, Elsevier

    Dr Marwan Shinawi

  75. Splicing mutation in the fibrillin‐1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia

    Article • Pediatric Pulmonology, February 2005, Wiley

    Dr Marwan Shinawi

  76. Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: Utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol

    Article • American Journal of Medical Genetics Part A, January 2005, Wiley

    Dr Marwan Shinawi, Dr Christopher A Wassif

  77. Extensive primary cutaneous herpes simplex virus type 1 infection in an infant following acute rotavirus gastroenteritis

    Article • European Journal of Pediatrics, November 2004, Springer Science + Business Media

    Dr Marwan Shinawi

  78. Pulmonary manifestations and function tests in children genetically diagnosed with FMF

    Article • Pediatric Pulmonology, May 2003, Wiley

    Dr Marwan Shinawi

  79. Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung’s disease

    Article • Pediatric Neurology, May 2003, Elsevier

    Dr Marwan Shinawi

  80. The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever

    Article • Arthritis & Rheumatism, April 2003, Wiley

    Dr Marwan Shinawi

  81. Crouzon syndrome: Association with absent pulmonary valve syndrome and severe tracheobronchomalacia

    Article • Pediatric Pulmonology, November 2002, Wiley

    Dr Marwan Shinawi

  82. Familial mediterranean fever: The segregation of four different mutations in 13 individuals from one inbred family: Genotype–phenotype correlation and intrafamilial variability

    Article • American Journal of Medical Genetics, March 2002, Wiley

    Dr Marwan Shinawi

  83. The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever

    Article • European Journal of Human Genetics, February 2002, Springer Science + Business Media

    Dr Marwan Shinawi

  84. Familial Mediterranean fever: prevalence, penetrance and genetic drift

    Article • European Journal of Human Genetics, August 2001, Springer Science + Business Media

    Dr Marwan Shinawi

  85. Fulminant Hepatitis Associated With Schistosoma mansoni

    Article • Journal of Pediatric Gastroenterology and Nutrition, May 2001, Wiley

    Dr Marwan Shinawi

  86. Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain

    Article • The Journal of Pediatrics, May 2001, Elsevier

    Dr Marwan Shinawi

  87. Neurodevelopmental Delay Associated With Nonconvulsive Status Epilepticus in a Toddler

    Article • Journal of Child Neurology, March 2001, SAGE Publications

    Dr Marwan Shinawi

  88. Neurodevelopmental Delay Associated With Nonconvulsive Status Epilepticus in a Toddler

    Article • Journal of Child Neurology, January 2001, Decker, Inc.

    Dr Marwan Shinawi

  89. The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease

    Article • Arthritis & Rheumatism, January 2001, Wiley

    Dr Marwan Shinawi

  90. Familial Mediterranean Fever: Clinical and Genetic Characterization in a Mixed Pediatric Population of Jewish and Arab Patients

    Article • PEDIATRICS, May 1999, American Academy of Pediatrics (AAP)

    Dr Marwan Shinawi

  91. Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis

    Article • Human Mutation, January 1999, Hindawi Publishing Corporation

    Dr Marwan Shinawi

  92. CSF levels of carnitine in children with meningitis, neurologic disorders, acute gastroenteritis, and seizure

    Article • Neurology, June 1998, Wolters Kluwer Health

    Dr Marwan Shinawi