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

Abnormal glycosylation in Joubert syndrome type 10.

artículo científico publicado en 2017

Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa

artículo científico publicado en 2008

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage

artículo científico publicado en 2016

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

scientific article published on 04 April 2020

Brainstem disconnection: two additional patients and expansion of the phenotype

artículo científico publicado en 2015

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

artículo científico publicado en 2008

Casting a wide net to find the molar tooth: A study on Joubert syndrome

artículo científico publicado en 2020

Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome

scientific article published on 24 October 2019

Cerebellar Watershed Injury in Children

artículo científico publicado en 2020

Cerebellar hypoplasia: differential diagnosis and diagnostic approach

artículo científico publicado en 2014

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated At A Single Center

artículo científico publicado en 2017

Crab allergen exposures aboard five crab-processing vessels

artículo científico publicado en 2002

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

artículo científico publicado en 2013

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

artículo científico publicado en 2022

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

scientific article published in 2023

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

scientific article published on 26 May 2020

Erratum: Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome

artículo científico publicado en 2017

Exome sequencing to find rare variants causing neurologic diseases ⬇️

artículo científico publicado el 27 de junio de 2012

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome

scientific article published on 11 July 2019

Eye movement abnormalities in Joubert syndrome

artículo científico publicado en 2009

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

artículo científico publicado en 2018

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome

artículo científico publicado en 2012

GPSM2 mutations in Chudley-McCullough syndrome.

artículo científico publicado en 2012

Genetics of cerebellar disorders

artículo científico publicado en 2018

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

artículo científico publicado en 2012

Healthcare recommendations for Joubert syndrome

artículo científico publicado en 2019

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation

artículo científico publicado en 2009

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity

artículo científico publicado en 2017

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

artículo científico publicado en 2018

Joubert syndrome (and related disorders) (OMIM 213300).

artículo científico publicado en 2007

Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia ⬇️

artículo científico publicado el 14 de febrero de 2012

Joubert syndrome: insights into brain development, cilium biology, and complex disease

artículo científico publicado en 2009

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause

artículo científico publicado en 2017

KIAA0586 is Mutated in Joubert Syndrome

artículo científico publicado en 2015

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

artículo científico publicado en 2015

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

artículo científico publicado en 2020

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

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

artículo científico publicado en 2015

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome

artículo científico publicado en 2009

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

artículo científico publicado en 2020

Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.

artículo científico publicado en 2013

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

artículo científico publicado en 2017

Mortality in Joubert syndrome.

artículo científico publicado en 2017

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

artículo científico publicado en 2012

Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability

artículo científico publicado en 2012

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

artículo científico

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy

artículo científico publicado en 2013

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy.

artículo científico publicado en 2014

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy

artículo científico publicado en 2014

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction

artículo científico publicado en 2017

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

artículo científico publicado en 2007

Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center

artículo científico publicado en 2017

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

artículo científico publicado en 2009

Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis

artículo científico publicado en 2013

Physiotherapy compared with advice for low back pain: study supports concept of self management of pain...

artículo científico publicado en 2004

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.

artículo científico publicado en 2005

Prenatal diagnosis of Chudley-McCullough syndrome

artículo científico publicado en 2016

Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis

artículo científico publicado en 2015

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

artículo científico publicado en 2016

Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

artículo científico publicado en 2015

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

artículo científico publicado en 2017

Redefining the Etiologic Landscape of Cerebellar Malformations

artículo científico publicado en 2019

Reply

scientific article published on 25 June 2020

Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree

artículo científico publicado en 2020

Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

artículo científico publicado en 2018

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity

artículo científico publicado en 2012

Risk factors for post-hemorrhagic hydrocephalus among infants with intraventricular hemorrhage.

artículo científico publicado en 2015

Spatial and cell type transcriptional landscape of human cerebellar development

artículo científico publicado en 2021

Spatial and single-cell transcriptional landscape of human cerebellar development ⬇️

artículo científico publicado en 2020

Submicroscopic chromosome abnormalities associated with spina bifida (myelomeningocele).

artículo científico publicado en 2010

Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome

artículo científico publicado en 2017

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

scientific article published on 21 November 2020

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

artículo científico publicado en 2011

Targeted long-read sequencing identifies missing disease-causing variation

artículo científico publicado en 2021

Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia

artículo científico publicado en 2015

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

artículo científico publicado en 2015

The Joubert Syndrome-associated Missense Mutation (V443D) in the Abelson-helper Integration Site 1 (AHI1) Protein Alters Its Localization and Protein-Protein Interactions ⬇️

artículo científico publicado el 26 de marzo de 2013

The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking

artículo científico publicado en 2011

The genetics of cerebellar malformations

artículo científico publicado en 2016

Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences

scientific article published on 16 July 2015

Wormless without wingless

artículo científico publicado en 2011

eP098: Exome sequencing of >500 individuals with brain malformation phenotypes reveals marked genetic heterogeneity

scientific article published on 21 March 2022

Lista de obras de

A human cell atlas of fetal chromatin accessibility

A human cell atlas of fetal gene expression

Abnormal glycosylation in Joubert syndrome type 10.

Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

Brainstem disconnection: two additional patients and expansion of the phenotype

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

Casting a wide net to find the molar tooth: A study on Joubert syndrome

Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome

Cerebellar Watershed Injury in Children

Cerebellar hypoplasia: differential diagnosis and diagnostic approach

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated At A Single Center

Crab allergen exposures aboard five crab-processing vessels

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Erratum: Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome

Exome sequencing to find rare variants causing neurologic diseases ⬇️

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome

Eye movement abnormalities in Joubert syndrome

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome

GPSM2 mutations in Chudley-McCullough syndrome.

Genetics of cerebellar disorders

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

Healthcare recommendations for Joubert syndrome

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

Joubert syndrome (and related disorders) (OMIM 213300).

Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia ⬇️

Joubert syndrome: insights into brain development, cilium biology, and complex disease

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause

KIAA0586 is Mutated in Joubert Syndrome

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

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

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

Mortality in Joubert syndrome.

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability

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

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy.

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis

Physiotherapy compared with advice for low back pain: study supports concept of self management of pain...

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.

Prenatal diagnosis of Chudley-McCullough syndrome

Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

Redefining the Etiologic Landscape of Cerebellar Malformations

Reply

Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree

Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity

Risk factors for post-hemorrhagic hydrocephalus among infants with intraventricular hemorrhage.

Spatial and cell type transcriptional landscape of human cerebellar development

Spatial and single-cell transcriptional landscape of human cerebellar development ⬇️

Submicroscopic chromosome abnormalities associated with spina bifida (myelomeningocele).

Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone