List of works - Marwan Shinawi

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

scientific article

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

scientific article

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

scientific article

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

scientific article (publication date: 12 November 2009)

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

scientific article

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

scientific article published on 15 March 2009

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

scientific article published on 01 February 2011

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

scientific article

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

scientific article published on 10 February 2016

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

scientific article (publication date: April 2003)

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

scientific article

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

scientific article published on 13 February 2017

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

scientific article

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

scientific article published on February 2002

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

scientific article

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

scientific article published on 12 May 2011

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

scientific journal article

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

scientific article published on June 10, 2011

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

scientific article published on 20 October 2010

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

scientific article

The MTHFR 677C-->T polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations

scientific article

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

scientific article

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

scientific article published on 2 November 2011

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

scientific article

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

scientific article

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

scientific article published on December 27, 2013

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

scientific article published on June 1, 1998

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

scientific article published on March 12, 2013

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

scientific article published on 16 November 2016

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

scientific article

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

scientific article published on 16 July 2015

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

scientific article published on 17 March 2016

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

scientific article published on 23 January 2014

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

scientific article published on 11 August 2015

The Xp contiguous deletion syndrome and autism

scientific article published on 01 June 2009

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

scientific article published on 7 May 2015

De novo mutations in SIK1 cause a spectrum of developmental epilepsies

scientific article

Low-level mosaicism of trisomy 14: phenotypic and molecular characterization

scientific article published in June 2008

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

scientific article published on 16 November 2016

Familial Mediterranean fever: the segregation of four different mutations in 13 individuals from one inbred family: genotype-phenotype correlation and intrafamilial variability.

scientific article published on May 2002

Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease.

scientific article published on May 2003

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

scientific article

Delineation of the proximal 3q microdeletion syndrome

scientific article published on 01 July 2008

Hyperhomocysteinemia and cobalamin disorders.

scientific article published on February 2007

Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.

scientific article

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

scientific article published on 24 November 2015

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

scientific article published in August 2008

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

scientific article published in July 2010

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

scientific article published in March 2009

Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes

scientific article published on 20 May 2014

List of works by Marwan Shinawi

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

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

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

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

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

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

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

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

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

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

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

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

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

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

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

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

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

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

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

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

The MTHFR 677C-->T polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

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

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

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

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

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

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

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

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

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

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

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

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

The Xp contiguous deletion syndrome and autism

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

De novo mutations in SIK1 cause a spectrum of developmental epilepsies

Low-level mosaicism of trisomy 14: phenotypic and molecular characterization

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

Familial Mediterranean fever: the segregation of four different mutations in 13 individuals from one inbred family: genotype-phenotype correlation and intrafamilial variability.

Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease.

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

Delineation of the proximal 3q microdeletion syndrome

Hyperhomocysteinemia and cobalamin disorders.

Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

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

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

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

Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes