List of works - Gerarda Cappuccio

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.

scientific article

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot

scientific article published on 12 December 2017

A pilot clinical trial with losartan in Myhre syndrome

scientific article published on 24 December 2020

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

scientific article published on 29 April 2020

AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency

scientific article published on 27 November 2018

An extremely severe phenotype attributed to WDR81 nonsense mutations

scientific article published on 3 October 2017

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

scientific article published on 11 May 2021

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

scientific article published on 29 September 2017

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

scientific article

Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?

scientific article published on 16 November 2012

Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder

scientific article published on 06 February 2020

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region

scientific article published on 09 March 2012

Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review

scientific article published on 19 December 2013

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

scientific article published on 25 July 2019

De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia

scientific article published on 10 February 2016

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

scientific article published on 27 July 2016

Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy

scientific article published on 26 August 2015

Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.

scientific article published on 2 August 2017

Expansion of the phenotype of lateral meningocele syndrome

scientific article published on 06 March 2020

Focal congenital lipoatrophy and vascular malformation: a mild form of inverse Klippel-Trenaunay syndrome?

scientific article published on 31 August 2012

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

scientific article published on 31 August 2017

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome

scientific article published on 08 November 2013

Identification of two novel splice‐site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype ⬇️

scientific article published on March 17, 2013

Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene.

scientific article published on 15 January 2014

Long-term follow-up of an individual with ITPR1-related disorder

scientific article published on 04 June 2020

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

scientific article published on 05 September 2019

Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy ⬇️

scientific article published on October 30, 2012

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

scientific article published on 10 June 2011

Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder

scientific article published on 31 May 2019

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

scientific article

Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights

scientific article published on 05 March 2019

Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders

scientific article published on 17 October 2018

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

scientific article published on 27 June 2019

Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency

scientific article published in July 2014

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum

scientific article published on 08 December 2019

Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome

scientific article published on 15 May 2020

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.

scientific article published on 11 April 2019

Rubinstein-Taybi syndrome in diverse populations

scientific article published on 27 September 2020

Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

scientific article published on 7 March 2017

Severe presentation and complex brain malformations in an individual carrying a CCND2 variant

scientific article published on 06 May 2019

Sphingolipid Metabolism Perturbations in Rett Syndrome

scientific article published on 10 October 2019

The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical Implications.

scientific article published on 8 January 2019

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

scientific article published on 01 April 2019

Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype.

scientific article published in October 2011

List of works by Gerarda Cappuccio

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot

A pilot clinical trial with losartan in Myhre syndrome

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency

An extremely severe phenotype attributed to WDR81 nonsense mutations

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?

Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region

Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy

Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.

Expansion of the phenotype of lateral meningocele syndrome

Focal congenital lipoatrophy and vascular malformation: a mild form of inverse Klippel-Trenaunay syndrome?

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome

Identification of two novel splice‐site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype ⬇️

Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene.

Long-term follow-up of an individual with ITPR1-related disorder

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy ⬇️

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights

Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum

Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.

Rubinstein-Taybi syndrome in diverse populations

Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

Severe presentation and complex brain malformations in an individual carrying a CCND2 variant

Sphingolipid Metabolism Perturbations in Rett Syndrome

The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical Implications.

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype.