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A human cell atlas of fetal gene expression

Science (American Association for the Advancement of Science), 2020-11, Vol.370 (6518)

2020

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

Lancet neurology, 2013-04, Vol.12 (4), p.381-393

2013

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A human cell atlas of fetal chromatin accessibility

Science (American Association for the Advancement of Science), 2020-11, Vol.370 (6518)

2020

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Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease

Seminars in pediatric neurology, 2009-09, Vol.16 (3), p.143-154

Doherty, Dan, MD, PhD

2009

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The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies

Annual review of genomics and human genetics, 2022-08, Vol.23 (1), p.301-329

2022

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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Science (American Association for the Advancement of Science), 2012-12, Vol.338 (6114), p.1619-1622

2012

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Spatial and cell type transcriptional landscape of human cerebellar development

Nature neuroscience, 2021-08, Vol.24 (8), p.1163

2021

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Systematic analysis of cilia characteristics and Hedgehog signaling in five immortal cell lines

PloS one, 2022-12, Vol.17 (12), p.e0266433-e0266433

2022

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

American journal of human genetics, 2019-01, Vol.104 (1), p.35-44

2019

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Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

American journal of human genetics, 2012-05, Vol.90 (5), p.856-863

2012

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

Acta neuropathologica, 2012-05, Vol.123 (5), p.695-709

2012

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

Human molecular genetics, 2011-10, Vol.20 (20), p.4041-4055

2011

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Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway

Nature communications, 2023-06, Vol.14 (1), p.3801-3801, Article 3801

2023

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

PLoS genetics, 2015-10, Vol.11 (10), p.e1005575-e1005575

2015

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

American journal of human genetics, 2017-11, Vol.101 (5), p.824-832

2017

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

Journal of medical genetics, 2016-03, Vol.53 (3), p.208-214

2016

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

American journal of human genetics, 2016-04, Vol.98 (4), p.772-781

2016

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

American journal of human genetics, 2012-06, Vol.90 (6), p.1088-1093

2012

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P194: SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates

Genetics in Medicine Open, 2024, Vol.2, p.101091

2024

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Eye Movement Abnormalities in Joubert Syndrome

Investigative ophthalmology & visual science, , Vol.50 (10), p.4669-4677

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Cerebellar hypoplasia: Differential diagnosis and diagnostic approach

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-06, Vol.166C (2), p.211-226

2014

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

Movement disorders, 2013-12, Vol.28 (14), p.2019-2023

2013

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TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

HGG advances, 2021-01, Vol.2 (1), p.100016, Article 100016

2021

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GPSM2 mutations in Chudley-McCullough syndrome

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2972-2973

2012

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Mortality in pediatric hydrocephalus

Developmental medicine and child neurology, 2022-01, Vol.64 (1), p.112-117

2022

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A human cell atlas of fetal gene expression

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

A human cell atlas of fetal chromatin accessibility

Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease

The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Spatial and cell type transcriptional landscape of human cerebellar development

Systematic analysis of cilia characteristics and Hedgehog signaling in five immortal cell lines

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

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

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

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

Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway

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

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

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

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

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

P194: SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates

Eye Movement Abnormalities in Joubert Syndrome

Cerebellar hypoplasia: Differential diagnosis and diagnostic approach

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

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

GPSM2 mutations in Chudley-McCullough syndrome

Mortality in pediatric hydrocephalus

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