Lista de obras -

17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.

artículo científico publicado en 2017

ADAT3-related intellectual disability: Further delineation of the phenotype

artículo científico publicado en 2016

Assessment of Nitric Oxide Production in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome with the Use of a Stable Isotope Tracer Infusion Technique

artículo científico publicado en 2017

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis

artículo científico publicado en 2020

Chromosome 15q24 microdeletion syndrome ⬇️

artículo científico publicado el 4 de enero de 2012

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

artículo científico publicado el 6 de julio de 2012

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

artículo científico publicado en 2015

Clinical pertinence metric enables hypothesis-independent genome-phenome analysis for neurologic diagnosis

artículo científico publicado en 2014

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations

artículo científico publicado en 2014

Correction to: Expanding the genetic heterogeneity of intellectual disability.

artículo científico publicado en 2017

Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

artículo científico publicado en 2017

De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report

artículo científico publicado en 2017

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

artículo científico publicado en 2010

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review ⬇️

artículo científico publicado el 2 de febrero de 2012

Disorders of carnitine biosynthesis and transport

artículo científico

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases

scientific article published on 29 February 2020

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

artículo científico publicado en 2016

Expanding the genetic heterogeneity of intellectual disability

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies

scientific article published on 22 July 2019

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

artículo científico publicado en 2016

Inborn Errors of Metabolism with Seizures: Defects of Glycine and Serine Metabolism and Cofactor-Related Disorders

artículo científico publicado en 2017

Inborn errors of metabolism

artículo científico

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.

artículo científico publicado en 2017

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

artículo científico publicado en 2011

Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features

scientific article published on 29 February 2020

LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome

scientific article published on 18 November 2018

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

artículo científico

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

artículo científico publicado en 2009

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

artículo científico publicado en 2017

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

artículo científico publicado en 2010

Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome

artículo científico publicado en 2014

Mitochondrial Cardiomyopathies

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Mitochondrial DNA maintenance defects

artículo científico publicado en 2017

Molecular and clinical spectra of FBXL4 deficiency.

artículo científico publicado en 2017

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

artículo científico publicado en 2016

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

scientific journal article

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra

artículo científico publicado en 2016

Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4.

artículo científico publicado en 2017

Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities

artículo científico publicado en 2017

OEIS complex associated with chromosome 1p36 deletion: a case report and review.

artículo científico publicado en 2010

On the phenotypic spectrum of serine biosynthesis defects

artículo científico publicado en 2016

PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities

scientific article published on 25 June 2018

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients

artículo científico publicado en 2017

Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes ⬇️

artículo científico publicado el 20 de diciembre de 2010

Serine biosynthesis and transport defects

artículo científico publicado en 2016

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management ⬇️

artículo científico publicado el 18 de septiembre de 2012

TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.

artículo científico publicado en 2018

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

artículo científico publicado en 2013

The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients

artículo científico publicado en 2016

The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population

artículo científico publicado en 2019

Therapies for mitochondrial diseases and current clinical trials

artículo científico publicado en 2017

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features

scientific article published on 26 December 2019

WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.

artículo científico publicado en 2017

Lista de obras de

17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.

ADAT3-related intellectual disability: Further delineation of the phenotype

Assessment of Nitric Oxide Production in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome with the Use of a Stable Isotope Tracer Infusion Technique

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis

Chromosome 15q24 microdeletion syndrome ⬇️

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

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

Clinical pertinence metric enables hypothesis-independent genome-phenome analysis for neurologic diagnosis

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations

Correction to: Expanding the genetic heterogeneity of intellectual disability.

Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report

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

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review ⬇️

Disorders of carnitine biosynthesis and transport

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

Expanding the genetic heterogeneity of intellectual disability

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

Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies

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

Inborn Errors of Metabolism with Seizures: Defects of Glycine and Serine Metabolism and Cofactor-Related Disorders

Inborn errors of metabolism

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features

LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

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 and clinical spectra of FBXL4 deficiency.

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

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

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra

Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4.

Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities

OEIS complex associated with chromosome 1p36 deletion: a case report and review.

On the phenotypic spectrum of serine biosynthesis defects

PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients

Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans

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

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

Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes ⬇️

Serine biosynthesis and transport defects

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management ⬇️

TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.

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

The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients

The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population

Therapies for mitochondrial diseases and current clinical trials

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features

WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.