All Stories

  1. Atypical Presentation of IARS1‐Related Disorder: Expanding the Phenotype and Genotype

    Article • JIMD Reports, May 2025, Wiley

    Dr Marwan Shinawi

  2. Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency

    Article • JIMD Reports, May 2025, Wiley

    Dr Marwan Shinawi

  3. Child Neurology: Five-Year Update on Siblings With Riboflavin Transporter Deficiency

    Article • Neurology, December 2024, Wolters Kluwer Health

    Dr Marwan Shinawi

  4. Case report: ocular manifestations of a gain-of-function mutation in CLCN6 , a newly diagnosed disease

    Article • Ophthalmic Genetics, December 2023, Taylor & Francis

    Dr Marwan Shinawi

  5. Primary Mitochondrial Disorders in the Neonate

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

    Dr Marwan Shinawi

  6. DDOST‐CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype

    Article • Journal of Inherited Metabolic Disease, October 2022, Wiley

    Dr Marwan Shinawi

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

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

    Dr Marwan Shinawi

  8. Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis

    Article • Nature Communications, November 2021, Springer Science + Business Media

    Dr Marwan Shinawi

  9. Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

    Article • Genetics in Medicine, October 2021, Elsevier

    Dr Marwan Shinawi

  10. A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1

    Article • Molecular Genetics and Metabolism Reports, September 2021, Elsevier

    Dr Marwan Shinawi

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

    Article • Neurology Genetics, August 2021, Wolters Kluwer Health

    Dr Marwan Shinawi

  12. Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

    Article • Genetics in Medicine, August 2021, Elsevier

    Dr Marwan Shinawi

  13. Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome

    Article • Nature Communications, July 2021, Springer Science + Business Media

    Dr Marwan Shinawi

  14. Biallelic variants in RNU12 cause CDAGS syndrome

    Article • Human Mutation, June 2021, Wiley

    Dr Marwan Shinawi

  15. Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function

    Article • Blood, May 2021, American Society of Hematology

    Dr Marwan Shinawi

  16. Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)

    Article • American Journal of Medical Genetics Part A, May 2021, Wiley

    Dr Marwan Shinawi

  17. Familial segregation of neuropsychiatric phenotypes and a 5’UTR deletion in PTPRD

    Article • Molecular Genetics and Metabolism, April 2021, Elsevier

    Dr Marwan Shinawi

  18. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

    Article • Genetics in Medicine, April 2021, Elsevier

    Dr Marwan Shinawi

  19. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

    Article • Genetics in Medicine, April 2021, Elsevier

    Dr Marwan Shinawi

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

    Article • Neurology Genetics, February 2021, Wolters Kluwer Health

    Dr Marwan Shinawi

  21. New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra

    Article • Neurology Genetics, February 2021, Wolters Kluwer Health

    Dr Marwan Shinawi

  22. Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients

    Article • Journal of Human Genetics, January 2021, Springer Science + Business Media

    Dr Marwan Shinawi

  23. Response to Mounts and Besser

    Article • Genetics in Medicine, January 2021, Elsevier

    Dr Marwan Shinawi

  24. Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype

    Article • Bone, January 2021, Elsevier

    Dr Marwan Shinawi

  25. A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration

    Article • The American Journal of Human Genetics, December 2020, Elsevier

    Dr Marwan Shinawi

  26. Overcoming presynaptic effects of VAMP2 mutations with 4‐aminopyridine treatment

    Article • Human Mutation, October 2020, Wiley

    Dr Marwan Shinawi

  27. Wilms tumor in patients with osteopathia striata with cranial sclerosis

    Article • European Journal of Human Genetics, September 2020, Springer Science + Business Media

    Dr Marwan Shinawi

  28. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

    Article • The American Journal of Human Genetics, August 2020, Elsevier

    Dr Marwan Shinawi

  29. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Article • Genetics in Medicine, July 2020, Elsevier

    Daniel Grinberg, Dr Marwan Shinawi

  30. Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

    Article • Genetics in Medicine, July 2020, Elsevier

    Dr Marwan Shinawi

  31. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Article • Human Genetics, March 2020, Springer Science + Business Media

    Dr Marwan Shinawi

  32. Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease

    Article • Orphanet Journal of Rare Diseases, March 2020, Springer Science + Business Media

    Dr Marwan Shinawi

  33. 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

  34. Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes

    Article • European Journal of Medical Genetics, March 2020, Elsevier

    Dr Marwan Shinawi

  35. Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

    Article • The American Journal of Human Genetics, February 2020, Elsevier

    Dr Marwan Shinawi

  36. Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

    Article • Frontiers in Neuroscience, January 2020, Frontiers

    Dr Marwan Shinawi

  37. Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities

    Article • Clinical Genetics, December 2019, Wiley

    Dr Marwan Shinawi

  38. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

    Article • Genetics in Medicine, December 2019, Elsevier

    Dr Marwan Shinawi

  39. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

    Article • Genetics in Medicine, September 2019, Elsevier

    Dr Marwan Shinawi

  40. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    Article • Nature Communications, July 2019, Springer Science + Business Media

    Nourelhoda Haridy, Dr Marwan Shinawi

  41. De novo substitutions of TRPM3 cause intellectual disability and epilepsy

    Article • European Journal of Human Genetics, July 2019, Springer Science + Business Media

    Dr Marwan Shinawi

  42. Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency

    Article • Bone, July 2019, Elsevier

    Dr Marwan Shinawi

  43. 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

    Article • Frontiers in Neuroscience, May 2019, Frontiers

    Dr Marwan Shinawi

  44. A mutation in Site‐1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema

    Article • Molecular Genetics & Genomic Medicine, May 2019, Wiley

    Dr Marwan Shinawi

  45. Pathogenic Variants in GPC4 Cause Keipert Syndrome

    Article • The American Journal of Human Genetics, May 2019, Elsevier

    Dr Marwan Shinawi

  46. A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity

    Article • Neurogenetics, April 2019, Springer Science + Business Media

    Dr Marwan Shinawi

  47. Variants in DOCK3 cause developmental delay and hypotonia

    Article • European Journal of Human Genetics, April 2019, Springer Science + Business Media

    Dr Marwan Shinawi

  48. Novel parent-of-origin-specific differentially methylated loci on chromosome 16

    Article • Clinical Epigenetics, April 2019, Springer Science + Business Media

    Dr Marwan Shinawi

  49. Birth Defects Among 788 Children Born to Gulf War Veterans Based on Physical Examination

    Article • Journal of Occupational and Environmental Medicine, April 2019, Wolters Kluwer Health

    Dr Marwan Shinawi

  50. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome

    Article • The American Journal of Human Genetics, April 2019, Elsevier

    Dr Marwan Shinawi

  51. Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome

    Article • Journal of Clinical Research in Pediatric Endocrinology, March 2019, Journal of Clinical Research of Pediatric Endocrinology

    Dr Marwan Shinawi

  52. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

    Article • The American Journal of Human Genetics, March 2019, Elsevier

    Dr Marwan Shinawi

  53. Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes

    Article • Bone, March 2019, Elsevier

    Dr Marwan Shinawi

  54. Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic

    Article • Journal of Pediatric Hematology/Oncology, March 2019, Wolters Kluwer Health

    Dr Marwan Shinawi

  55. Child Neurology: Brown-Vialetto-Van Laere syndrome

    Article • Neurology, November 2018, Wolters Kluwer Health

    Dr Marwan Shinawi

  56. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

    Article • Human Mutation, September 2018, Wiley

    Dr Marwan Shinawi

  57. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

    Article • The American Journal of Human Genetics, August 2018, Elsevier

    Dr Marwan Shinawi

  58. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

    Article • Brain, July 2018, Oxford University Press (OUP)

    Dr Philippe M Campeau, Dr Marwan Shinawi

  59. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

    Article • Brain, June 2018, Oxford University Press (OUP)

    Dr Marwan Shinawi

  60. Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures

    Article • Pediatric Research, June 2018, Springer Science + Business Media

    Dr Marwan Shinawi

  61. 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

  62. Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5)

    Article • Bone, February 2018, Elsevier

    Dr Marwan Shinawi

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

    Article • Molecular Syndromology, January 2018, Karger Publishers

    Dr Marwan Shinawi

  64. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

    Article • The American Journal of Human Genetics, January 2018, Elsevier

    Dr Marwan Shinawi

  65. The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies

    Article • American Journal of Medical Genetics Part A, September 2017, Wiley

    Wei Shen, Dr Marwan Shinawi

  66. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

    Article • Genetics in Medicine, September 2017, Elsevier

    Dr Marwan Shinawi

  67. 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

  68. Adult-onset dystonia with marfanoid features

    Article • Neurology Clinical Practice, August 2017, Wolters Kluwer Health

    Dr Marwan Shinawi

  69. 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

  70. Support for the Diagnosis of CHARGE Syndrome—Reply

    Article • JAMA Otolaryngology–Head & Neck Surgery, June 2017, American Medical Association (AMA)

    Dr Marwan Shinawi

  71. Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

    Article • Journal of Autism and Developmental Disorders, February 2017, Springer Science + Business Media

    Dr Marwan Shinawi

  72. CpG Island Hypermethylation Mediated by DNMT3A Is a Consequence of AML Progression

    Article • Cell, February 2017, Elsevier

    Dr Marwan Shinawi

  73. Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome

    Article • JAMA Otolaryngology–Head & Neck Surgery, February 2017, American Medical Association (AMA)

    Dr Marwan Shinawi

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

    Article • Clinical Genetics, January 2017, Wiley

    Dr Marwan Shinawi

  75. 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

  76. 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

  77. The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

    Article • Journal of Autism and Developmental Disorders, November 2016, Springer Science + Business Media

    Dr Marwan Shinawi

  78. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

    Article • Genetics in Medicine, November 2016, Elsevier

    Dr Marwan Shinawi

  79. TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons

    Article • Nature Genetics, September 2016, Springer Science + Business Media

    Dr Marwan Shinawi

  80. A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects

    Article • Neurogenetics, April 2016, Springer Science + Business Media

    Dr Marwan Shinawi

  81. STXBP1 encephalopathy

    Article • Neurology, March 2016, Wolters Kluwer Health

    Dr Marwan Shinawi

  82. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

    Article • The American Journal of Human Genetics, February 2016, Elsevier

    Dr Marwan Shinawi

  83. Multigenerational autosomal dominant inheritance of 5p chromosomal deletions

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

    Dr Marwan Shinawi

  84. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

    Article • Journal of Medical Genetics, August 2015, BMJ

    Dr Marwan Shinawi

  85. Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy

    Article • Journal of Medical Genetics, July 2015, BMJ

    Dr Marwan Shinawi

  86. 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

    Article • Journal of Biological Chemistry, June 2015, Elsevier

    Dr Marwan Shinawi

  87. De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies

    Article • The American Journal of Human Genetics, June 2015, Elsevier

    Dr Marwan Shinawi

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

    Article • Clinical Case Reports, April 2015, Wiley

    Dr Marwan Shinawi

  89. De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies

    Article • The American Journal of Human Genetics, April 2015, Elsevier

    Dr Marwan Shinawi

  90. 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

  91. TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

    Article • The New England Journal of Medicine and Surgery and the Collateral Branches of Science, January 2015, New England Journal of Medicine (NEJM/MMS)

    Dr Marwan Shinawi

  92. A 5-Month-Old Boy with Delay in Growth and Development and Decreased Muscle Tone

    Article • Clinical Chemistry, January 2015, Oxford University Press (OUP)

    Dr Marwan Shinawi

  93. Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes

    Article • The American Journal of Human Genetics, November 2014, Elsevier

    Dr Marwan Shinawi

  94. Fatty Acid Metabolism and Defects

    Article • October 2014, Oxford University Press (OUP)

    Dr Marwan Shinawi

  95. 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

  96. 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

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

    Article • Clinical Genetics, May 2014, Wiley

    Dr Marwan Shinawi

  98. 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

  99. Autism Spectrum Disorders

    Article • May 2014, Oxford University Press (OUP)

    Dr Marwan Shinawi

  100. 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

  101. 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

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

    Article • Clinical Genetics, November 2013, Wiley

    Dr Marwan Shinawi

  103. 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

  104. 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

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

    Article • Pediatric Pulmonology, March 2013, Wiley

    Dr Marwan Shinawi

  106. 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

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

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

    Dr Marwan Shinawi

  108. 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

  109. 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

  110. ADULT syndrome due to an R243W mutation in TP63

    Article • International Journal of Dermatology, May 2012, Wiley

    Dr Marwan Shinawi

  111. 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

  112. Acute Intermittent Porphyria

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

    Dr Marwan Shinawi

  113. Early‐onset Hepatic Fibrosis in Lysinuric Protein Intolerance

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

    Dr Marwan Shinawi, Dennis Dietzen

  114. 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

  115. 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

  116. 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

  117. 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

  118. Known and Possible Roles of Epigenetics in Autism

    Article • May 2011, Oxford University Press (OUP)

    Dr Marwan Shinawi

  119. 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

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

    Article • Genetics in Medicine, February 2011, Elsevier

    Dr Marwan Shinawi

  121. Increased Homocysteine in a Patient Diagnosed with Marfan Syndrome

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

    Dr Marwan Shinawi, Dennis Dietzen

  122. 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

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

    Article • Perinatal Journal, July 2010, Springer Science + Business Media

    Dr Marwan Shinawi

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

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

    Dr Marwan Shinawi

  125. 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

  126. 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

  127. 114 Expanding clinical spectrum of RRM2B mutations to include MNGIE

    Article • Mitochondrion, March 2010, Elsevier

    Dr Marwan Shinawi

  128. Progressive Myopathy With Multiple Symmetric Lipomatosis

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

    Dr Marwan Shinawi

  129. 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

  130. 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

  131. Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B

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

    Dr Marwan Shinawi

  132. 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

  133. 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

  134. The Xp contiguous deletion syndrome and autism

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

    Dr Marwan Shinawi

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

    Article • Autism Research, March 2009, Wiley

    Dr Marwan Shinawi

  136. 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

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

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

    Dr Marwan Shinawi

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

    Article • Muscle & Nerve, February 2009, Wiley

    Dr Marwan Shinawi

  139. 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

  140. The array CGH and its clinical applications

    Article • Drug Discovery Today, September 2008, Elsevier

    Dr Marwan Shinawi

  141. 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

  142. Delineation of the proximal 3q microdeletion syndrome

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

    Dr Marwan Shinawi

  143. 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

  144. 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

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

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

    Dr Marwan Shinawi

  146. 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

  147. 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

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

    Article • Clinical Pediatrics, November 2007, SAGE Publications

    Dr Marwan Shinawi

  149. Preaxial polydactyly in neurofibromatosis 1

    Article • Clinical Dysmorphology, July 2007, Wolters Kluwer Health

    Dr Marwan Shinawi

  150. Hyperhomocysteinemia and cobalamin disorders

    Article • Molecular Genetics and Metabolism, February 2007, Elsevier

    Dr Marwan Shinawi

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

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

    Dr Marwan Shinawi

  152. Erratum

    Article • Genetics in Medicine, September 2006, Elsevier

    Dr Marwan Shinawi

  153. 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

  154. Autoantibodies against bactericidal/permeability–increasing protein (BPI–ANCA) in cystic fibrosis patients treated with azithromycin

    Article • Clinical and Experimental Medicine, July 2005, Springer Science + Business Media

    Dr Marwan Shinawi

  155. 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

  156. 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

  157. 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

  158. No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia

    Article • Journal of Medical Genetics, November 2004, BMJ

    Dr Marwan Shinawi

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

    Article • Pediatric Pulmonology, May 2003, Wiley

    Dr Marwan Shinawi

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

    Article • Pediatric Neurology, May 2003, Elsevier

    Dr Marwan Shinawi

  161. 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

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

    Article • Pediatric Pulmonology, November 2002, Wiley

    Dr Marwan Shinawi

  163. 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

  164. 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

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

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

    Dr Marwan Shinawi

  166. Fulminant Hepatitis Associated With Schistosoma mansoni

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

    Dr Marwan Shinawi

  167. 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

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

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

    Dr Marwan Shinawi

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

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

    Dr Marwan Shinawi

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

    Article • Arthritis & Rheumatism, January 2001, Wiley

    Dr Marwan Shinawi

  171. 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

  172. 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

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

    Article • Neurology, June 1998, Wolters Kluwer Health

    Dr Marwan Shinawi