Lista de obras -

A human cell atlas of fetal chromatin accessibility

artículo científico publicado en 2020

A human cell atlas of fetal gene expression

artículo científico publicado en 2020

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

artículo científico publicado en 2016

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

artículo científico publicado en 2018

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

artículo científico publicado en 2017

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

scientific article published on 18 July 2019

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

scientific article published on 14 November 2019

Lissencephaly: Expanded imaging and clinical classification.

artículo científico publicado en 2017

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

scientific article published on 21 November 2018

Modeling of Autism Genetic Variations in Mice: Focusing on Synaptic and Microcircuit Dysfunctions ⬇️

artículo científico publicado el 8 de mayo de 2012

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

artículo científico

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

artículo científico publicado en 2016

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

scientific article published on 15 November 2018

PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice

artículo científico publicado en 2019

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

scientific article published on 28 February 2020

Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.

artículo científico publicado en 2017

Pleiotropic Mechanisms Indicated for Sex Differences in Autism

artículo científico publicado en 2016

Ptf1a is a molecular determinant for both glutamatergic and GABAergic neurons in the hindbrain

artículo científico publicado en 2008

Redefining the Etiologic Landscape of Cerebellar Malformations

artículo científico publicado en 2019

Refining the Neuroimaging Definition of the Dandy-Walker Phenotype

artículo científico publicado en 2022

Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

artículo científico publicado en 2018

Risk of meningomyelocele mediated by the common 22q11.2 deletion

artículo científico publicado en 2024

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature

artículo científico publicado en 2019

Spatial and cell type transcriptional landscape of human cerebellar development

artículo científico publicado en 2021

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

artículo científico publicado en 2019

The genetics of cerebellar malformations

artículo científico publicado en 2016

Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain

scientific article published on 19 June 2020

Lista de obras de

A human cell atlas of fetal chromatin accessibility

A human cell atlas of fetal gene expression

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Lissencephaly: Expanded imaging and clinical classification.

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

Modeling of Autism Genetic Variations in Mice: Focusing on Synaptic and Microcircuit Dysfunctions ⬇️

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.

Pleiotropic Mechanisms Indicated for Sex Differences in Autism

Ptf1a is a molecular determinant for both glutamatergic and GABAergic neurons in the hindbrain

Redefining the Etiologic Landscape of Cerebellar Malformations

Refining the Neuroimaging Definition of the Dandy-Walker Phenotype

Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

Risk of meningomyelocele mediated by the common 22q11.2 deletion

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature

Spatial and cell type transcriptional landscape of human cerebellar development

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

The genetics of cerebellar malformations

Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain