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Author Details

Dan Doherty
University of Washington
1996
108
46
PMIDPaper TitleJournal TitlePublished Year
36708265Central sleep apnea in patients with pontine tegmental cap dysplasia treated with supplemental oxygen: a case report.J Clin Sleep Med2023
37582367Single-cell census of human tooth development enables generation of human enamel.Dev Cell2023
37820724Species-specific FMRP regulation of RACK1 is critical for prenatal cortical development.Neuron2023
37194416Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.Ann Clin Transl Neurol2023
36788019Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.J Med Genet2023
36745127Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.Genet Med2023
34268734Mortality in pediatric hydrocephalus.Dev Med Child Neurol2022
35833801Cas12a-Capture: A Novel, Low-Cost, and Scalable Method for Targeted Sequencing.CRISPR J2022
35751429De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.Am J Med Genet A2022
35655331The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.Annu Rev Genomics Hum Genet2022
34675124<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.J Med Genet2022
34523780Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.Am J Med Genet A2022
33351141Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.Brain2021
33791682TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.HGG Adv2021
34440449A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.Genes (Basel)2021
34822773Rescuing human fetal tissue research in the United States: A call for additional regulatory reform.Stem Cell Reports2021
34216551Targeted long-read sequencing identifies missing disease-causing variation.Am J Hum Genet2021
34140698Spatial and cell type transcriptional landscape of human cerebellar development.Nat Neurosci2021
32453716Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.J Clin Invest2020
31834374MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.Brain2020
31710777Healthcare recommendations for Joubert syndrome.Am J Med Genet A2020
33131181Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.Hum Mutat2020
33184181A human cell atlas of fetal gene expression.Science2020
33184180A human cell atlas of fetal chromatin accessibility.Science2020
32586961Reply.AJNR Am J Neuroradiol2020
32275884Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.Am J Hum Genet2020
32327437Cerebellar Watershed Injury in Children.AJNR Am J Neuroradiol2020
30554721GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.Am J Hum Genet2019
31649160Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome.AJNR Am J Neuroradiol2019
31474318Redefining the Etiologic Landscape of Cerebellar Malformations.Am J Hum Genet2019
31294511Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.Am J Med Genet A2019
28771248Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.Genet Med2018
30055837Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.Ophthalmology2018
29903444Genetics of cerebellar disorders.Handb Clin Neurol2018
30471716MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.Am J Hum Genet2018
29112083Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.J Pediatr Gastroenterol Nutr2018
28652966Disruption to control network function correlates with altered dynamic connectivity in the wider autism spectrum.Neuroimage Clin2017
28087721Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.J Med Genet2017
28497568Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.Am J Med Genet A2017
28125082Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.Genet Med2017
28371402Mortality in Joubert syndrome.Am J Med Genet A2017
28344780Abnormal glycosylation in Joubert syndrome type 10.Cilia2017
29087383Erratum: Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome.Nat Cell Biol2017
29106825Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.Am J Hum Genet2017
29146704Prospective Evaluation of Kidney Disease in Joubert Syndrome.Clin J Am Soc Nephrol2017
28625504Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.Am J Hum Genet2017
28777934Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.Am J Hum Genet2017
28846093Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome.Nat Cell Biol2017
28929972Abstracts from Hydrocephalus 2016.Fluids Barriers CNS2017
26184484Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences.J Child Neurol2016
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Collaborators

William B Dobyns
University of Minnesota
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Michael J Bamshad
University of Washington
Co-authored papers 11
Hannah M Tully
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Co-authored papers 10
Deborah A Nickerson
University of Washington
Co-authored papers 9
William A Gahl
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 9
Friedhelm Hildebrandt
Boston Children's Hospital
Co-authored papers 9
Jay Shendure
University of Washington
Co-authored papers 9
Dennis W W Shaw
Seattle Children's Hospital
Co-authored papers 6
James C Mullikin
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 6
Eugen Boltshauser
Children's University Hospital
Co-authored papers 6
Colin A Johnson
University of Leeds Leeds Institute of Medical Research at St James's
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Nicholas Katsanis
Northwestern University
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Enza Maria Valente
University of Pavia
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May Christine V Malicdan
National Human Genome Research Institute, National Institutes of Health
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Rachel H Giles
University Medical Center Utrecht
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Andrew E Timms
Center for Integrative Brain Research, Seattle Children's Research Institute
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John A Sayer
Translational and Clinical Research Institute, Newcastle University
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Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
Co-authored papers 4
Francisco A Perez
Seattle Children's Hospital
Co-authored papers 4
Theo Heller
National Institute of Diabetes and Digestive and Kidney Diseases
Co-authored papers 4
Ghayda M Mirzaa
Seattle Children's Hospital.
Co-authored papers 3
Michael O Dorschner
University of Washington
Co-authored papers 3
Stefano D'Arrigo
Fondazione IRCCS Istituto Neurologico Carlo Besta
Co-authored papers 3
Kym M Boycott
Children's Hospital of Eastern Ontario
Co-authored papers 3
Heymut Omran
University Hospital Muenster
Co-authored papers 3
Jeremy F Reiter
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Elaine H Zackai
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Release 1.2