List of works - Fernando Scaglia

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

scientific article published on 25 January 2017

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

scientific article

Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders

scientific article published on 06 July 2012

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

scientific article published on 22 May 2013

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

scientific article published on 10 January 2019

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants

scientific article published on September 2010

Detection of clinically relevant exonic copy-number changes by array CGH.

scientific article

Disorders of carnitine biosynthesis and transport

scientific article published on 10 September 2015

GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis

scientific article published on 30 October 2019

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation

scientific article

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation

scientific article published on 27 January 2016

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

scientific article published in December 2006

Lessons learned from additional research analyses of unsolved clinical exome cases

scientific article published on 21 March 2017

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

scientific article published on 15 June 2015

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

scientific article published in January 2010

Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome

scientific article published on 08 January 2014

Mitochondrial Cardiomyopathies

scientific article

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options

scientific article

Mitochondrial DNA maintenance defects

scientific article published on 16 February 2017

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency

scientific article published on August 2010

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

scientific article

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

scientific article

Phenotypic expansion in - a common cause of intellectual disability in females

scientific article published on 15 September 2018

Phenotypic manifestations of copy number variation in chromosome 16p13.11.

scientific article

RAEDERICHNUS DONDASI A NEW TRACE FOSSIL FROM THE EARLY PALEOZOIC OF ARGENTINA REVEALS SHOALING BEHAVIOR IN EARLY FISH ⬇️

scientific paper published in 2022

Reanalysis of Clinical Exome Sequencing Data

scientific article published on 01 June 2019

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

scientific journal article

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

scientific article

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

scientific article published on 26 June 2009

Response to Newman et al.

scientific article

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation.

scientific article

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5

scientific article published on 17 April 2020

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome

scientific article

Therapies for mitochondrial diseases and current clinical trials

scientific article published on 18 September 2017

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

scientific article

List of works by Fernando Scaglia

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants

Detection of clinically relevant exonic copy-number changes by array CGH.

Disorders of carnitine biosynthesis and transport

GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

Lessons learned from additional research analyses of unsolved clinical exome cases

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome

Mitochondrial Cardiomyopathies

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options

Mitochondrial DNA maintenance defects

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Phenotypic expansion in - a common cause of intellectual disability in females

Phenotypic manifestations of copy number variation in chromosome 16p13.11.

RAEDERICHNUS DONDASI A NEW TRACE FOSSIL FROM THE EARLY PALEOZOIC OF ARGENTINA REVEALS SHOALING BEHAVIOR IN EARLY FISH ⬇️

Reanalysis of Clinical Exome Sequencing Data

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

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

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Response to Newman et al.

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation.

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome

Therapies for mitochondrial diseases and current clinical trials

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.