Lista de obras -

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

artículo científico publicado en 2017

Acute toxicity profile of craniospinal irradiation with intensity-modulated radiation therapy in children with medulloblastoma: A prospective analysis

artículo científico publicado en 2015

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

artículo científico publicado en 2015

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2018

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

artículo científico publicado en 2019

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

scientific article published on 27 December 2018

De novo SPAST mutations may cause a complex SPG4 phenotype

artículo científico publicado en 2019

Effect of vaccinations on seizure risk and disease course in Dravet syndrome.

artículo científico publicado en 2015

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

artículo científico publicado en 2016

Hypofractionation vs conventional radiation therapy for newly diagnosed diffuse intrinsic pontine glioma: a matched-cohort analysis

artículo científico publicado en 2012

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

scientific article published on 05 September 2019

Malignant migrating partial seizures in a 4‐month‐old boy ⬇️

artículo científico publicado el 1 de junio de 2011

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in RARS cause hypomyelination

artículo científico publicado en 2014

Novel hypomyelinating leukoencephalopathy affecting early myelinating structures

artículo científico publicado en 2012

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

artículo científico publicado en 2017

Primary melanoma of the CNS in children is driven by congenital expression of oncogenic NRAS in melanocytes.

artículo científico publicado en 2013

Social competence in newly diagnosed pediatric brain tumor patients

scientific article published on 04 November 2019

The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene

artículo científico publicado en 2016

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

artículo científico publicado en 2018

Lista de obras de

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Acute toxicity profile of craniospinal irradiation with intensity-modulated radiation therapy in children with medulloblastoma: A prospective analysis

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

De novo SPAST mutations may cause a complex SPG4 phenotype

Effect of vaccinations on seizure risk and disease course in Dravet syndrome.

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

Hypofractionation vs conventional radiation therapy for newly diagnosed diffuse intrinsic pontine glioma: a matched-cohort analysis

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Malignant migrating partial seizures in a 4‐month‐old boy ⬇️

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Mutations in RARS cause hypomyelination

Novel hypomyelinating leukoencephalopathy affecting early myelinating structures

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Primary melanoma of the CNS in children is driven by congenital expression of oncogenic NRAS in melanocytes.

Social competence in newly diagnosed pediatric brain tumor patients

The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.