List of works - Daniel Doherty

A human cell atlas of fetal chromatin accessibility

scientific article published on 01 November 2020

A human cell atlas of fetal gene expression

scientific article published on 01 November 2020

Abnormal glycosylation in Joubert syndrome type 10.

scientific article published on 23 March 2017

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

scientific article

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

scientific article

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

scientific article published on 11 February 2015

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

scientific article

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

scientific article published on 22 January 2020

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

scientific article published on 24 October 2019

Cerebellar Watershed Injury in Children

scientific article published on 23 April 2020

Cerebellar hypoplasia: differential diagnosis and diagnostic approach

scientific article published on 16 May 2014

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

scientific article published on 3 November 2017

Crab allergen exposures aboard five crab-processing vessels

journal article published in 2002

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

scientific article

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

scientific article published in 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

scientific article published in October 2017

Exome sequencing to find rare variants causing neurologic diseases ⬇️

scientific article published on June 27, 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

scientific article published on 14 May 2009

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

scientific article published on 13 December 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

scientific article

GPSM2 mutations in Chudley-McCullough syndrome.

scientific article

Genetics of cerebellar disorders

scientific article published on 01 January 2018

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

scientific article published in February 2012

Healthcare recommendations for Joubert syndrome

scientific article published on 11 November 2019

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

scientific article

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

scientific article

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

scientific article published on 25 July 2018

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

scientific article published on 21 March 2007

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

scientific article published on February 14, 2012

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

scientific article

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

scientific article published on 13 January 2017

KIAA0586 is Mutated in Joubert Syndrome

scientific article

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

scientific article published on 16 December 2015

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

scientific article published on 01 November 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

scientific article published on 21 October 2015

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

scientific article

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

scientific article published on 01 January 2020

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

scientific article published on 18 March 2013

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

scientific article published on 26 January 2017

Mortality in Joubert syndrome.

scientific article published on 28 March 2017

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

scientific article

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

scientific article

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

scientific article published on 14 June 2017

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

scientific article

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

scientific article published in October 2014

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

scientific article

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction

scientific article published on August 2017

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

scientific article

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

scientific article published on 12 May 2017

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Prenatal diagnosis of Chudley-McCullough syndrome

scientific article published on 17 June 2016

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

scientific article published on 14 February 2015

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

scientific article published on 29 March 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.

scientific article published on 30 June 2015

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

scientific article

Redefining the Etiologic Landscape of Cerebellar Malformations

scientific article published on 29 August 2019

Reply

scientific article published on 25 June 2020

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

scientific article published on 22 December 2020

Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

scientific article published in December 2018

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

scientific article published on 26 March 2012

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

scientific article

Spatial and cell type transcriptional landscape of human cerebellar development

scientific article published on 17 June 2021

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

journal article from 'bioRxiv' published in 2020

Submicroscopic chromosome abnormalities associated with spina bifida (myelomeningocele).

scientific article published on 15 December 2010

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

scientific article published on 28 August 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

scientific article

Targeted long-read sequencing identifies missing disease-causing variation

scientific article published on 02 July 2021

Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia

scientific article published on 12 October 2015

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

scientific article published on 20 October 2015

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

scientific article published on March 26, 2013

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

scientific article

The genetics of cerebellar malformations

scientific article

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

scientific article published on 16 July 2015

Wormless without wingless

scientific article published on 01 June 2011

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

scientific article published on 21 March 2022

List of works by Daniel Doherty

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