List of works - Marwan Shinawi

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

scientific article published on 12 May 2011

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

scientific article published in August 2008

A 5-month-old boy with delay in growth and development and decreased muscle tone.

scientific article published in January 2015

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

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

scientific article

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

scientific article published on 19 April 2016

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

scientific article

ADULT syndrome due to an R243W mutation in TP63

scientific article published on 01 June 2012

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

scientific article published in March 2009

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

scientific article published on 01 July 2005

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

scientific article

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

scientific article published on 28 May 2014

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

scientific article published on June 1, 1998

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

scientific article

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

scientific article published on August 1, 2010

Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient.

scientific article published on 7 November 2011

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

scientific article

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

scientific article published on 13 February 2017

Crouzon syndrome: association with absent pulmonary valve syndrome and severe tracheobronchomalacia.

scientific article published in December 2002

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

scientific article published in June 2015

De novo mutations in SIK1 cause a spectrum of developmental epilepsies

scientific article

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

scientific article published on 05 July 2019

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

scientific article published on 19 March 2020

Delineation of the proximal 3q microdeletion syndrome

scientific article published on 01 July 2008

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

scientific article published on June 10, 2011

Digynic triploidy: utility and challenges of noninvasive prenatal testing

scientific article published on 9 April 2015

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

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

scientific article published on 13 December 2012

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

scientific article published on 10 September 2012

Early-onset hepatic fibrosis in lysinuric protein intolerance

scientific article published on 01 December 2011

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

scientific article published on 6 February 2017

Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord

scientific article published in 2022

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

scientific article published on 20 October 2010

FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

scientific article

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

scientific article published on 15 August 2014

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

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

scientific article published on March 12, 2013

Hyperhomocysteinemia and cobalamin disorders.

scientific article published on February 2007

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

scientific article published on 23 November 2021

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

scientific article published on May 2001

Increased homocysteine in a patient diagnosed with Marfan syndrome.

scientific article published on November 2010

Infantile familial Mediterranean fever.

scientific article published on October 2003

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

scientific article published on 09 May 2018

Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes

scientific article published on 20 May 2014

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

scientific article published on 15 August 2019

Is this the Coffin-Siris syndrome or the BOD syndrome?

scientific article published on 01 March 2009

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

scientific article published on 01 February 2011

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

scientific article published in August 2021

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

scientific article published in June 2008

Lymphedema of the lower extremity: is it genetic or nongenetic?

scientific article published on 19 July 2007

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

scientific article published on 06 July 2010

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

scientific article published on 15 March 2009

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

Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.

scientific article

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

scientific article

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

scientific article published on 24 November 2015

Multiple ganglion cysts ('cystic ganglionosis'): an unusual presentation in a child

scientific article published on 01 March 2007

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

scientific article published on 16 July 2015

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

scientific article

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

scientific article

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

scientific article published on May 2003

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

scientific article published on 16 November 2016

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

scientific article

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

scientific article published on 08 April 2019

Overcoming Presynaptic Effects of VAMP2 Mutations with 4-Aminopyridine Treatment

scientific article published on 09 September 2020

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

scientific article published on 09 March 2020

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

scientific article published on 23 March 2019

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

scientific article

Preaxial polydactyly in neurofibromatosis 1

scientific article published on 01 July 2007

Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.

scientific article published on 10 November 2016

Progressive myopathy with multiple symmetric lipomatosis

scientific article published on 01 December 2009

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

scientific article published on June 2003

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

scientific article published on 01 September 2005

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

scientific journal 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

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)

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

scientific article

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

scientific article published on 10 February 2016

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

scientific article published on 23 January 2014

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

scientific article published on 11 December 2019

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

scientific article

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

scientific article

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

scientific article

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

scientific article published on 16 November 2016

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

scientific article

The Xp contiguous deletion syndrome and autism

scientific article published on 01 June 2009

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)

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

scientific article published on February 2002

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

Transient massive trimethylaminuria associated with food protein-induced enterocolitis syndrome.

scientific article published on 3 July 2013

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

scientific article published on 24 September 2018

Variants in DOCK3 cause developmental delay and hypotonia

scientific article published on 11 April 2019

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

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

scientific article

Wilms tumor in patients with osteopathia striata with cranial sclerosis

scientific article published on 02 September 2020

List of works by Marwan Shinawi

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

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

A 5-month-old boy with delay in growth and development and decreased muscle tone.

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

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

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

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

ADULT syndrome due to an R243W mutation in TP63

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

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

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

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

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

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

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

Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient.

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

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

Crouzon syndrome: association with absent pulmonary valve syndrome and severe tracheobronchomalacia.

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

De novo mutations in SIK1 cause a spectrum of developmental epilepsies

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Delineation of the proximal 3q microdeletion syndrome

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

Digynic triploidy: utility and challenges of noninvasive prenatal testing

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

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

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

Early-onset hepatic fibrosis in lysinuric protein intolerance

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

Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord

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

FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

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

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

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

Hyperhomocysteinemia and cobalamin disorders.

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

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

Increased homocysteine in a patient diagnosed with Marfan syndrome.

Infantile familial Mediterranean fever.

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

Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes

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

Is this the Coffin-Siris syndrome or the BOD syndrome?

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

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

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

Lymphedema of the lower extremity: is it genetic or nongenetic?

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

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

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

Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.

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

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

Multiple ganglion cysts ('cystic ganglionosis'): an unusual presentation in a child

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

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

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

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

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

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

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

Overcoming Presynaptic Effects of VAMP2 Mutations with 4-Aminopyridine Treatment

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

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

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

Preaxial polydactyly in neurofibromatosis 1

Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.

Progressive myopathy with multiple symmetric lipomatosis

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

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

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

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

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

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

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

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