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Daniel C. Dorset

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
2017 · Julia Wang, Rami Al-Ouran, et al. · The American Journal of Human Genetics · 204
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The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
2017 · Rachel B. Ramoni, John J. Mulvihill, et al. · The American Journal of Human Genetics · 179
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IRF2BPL Is Associated with Neurological Phenotypes
2018 · Paul C. Marcogliese, Vandana Shashi, et al. · The American Journal of Human Genetics · 110
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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
2019 · Elena-Raluca Nicoli, Mary R. Weston, et al. · The American Journal of Human Genetics · 96
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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
2018 · Monika Oláhová, Wan Hee Yoon, et al. · The American Journal of Human Genetics · 96
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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
2018 · Keren Machol, Justine Rousseau, et al. · The American Journal of Human Genetics · 86
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A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
2018 · Vandana Shashi, Vandana Shashi, et al. · Genetics in Medicine · 76
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
2019 · Brett V. Johnson, Raman Kumar, et al. · Biological Psychiatry · 68
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Reovirus Cell Entry Requires Functional Microtubules
2013 · Bernardo A. Mainou, Paula F. Zamora, et al. · mBio · 63
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
2019 · Oguz Kanca, Jonathan C. Andrews, et al. · The American Journal of Human Genetics · 54
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De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
2019 · Andrea Accogli, Sara Calabretta, et al. · The American Journal of Human Genetics · 53
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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
2017 · Loren D.M. Pena, Yong-Hui Jiang, et al. · Genetics in Medicine · 50
Serotonin Receptor Agonist 5-Nonyloxytryptamine Alters the Kinetics of Reovirus Cell Entry
2015 · Bernardo A. Mainou, Alison W. Ashbrook, et al. · Journal of Virology · 40
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A high-throughput fluorescence polarization anisotropy assay for the 70N domain of replication protein A
2011 · Elaine M. Souza-Fagundes, Andreas O. Frank, et al. · Analytical Biochemistry · 40
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
2019 · Lindsay C. Burrage, John J. Reynolds, et al. · The American Journal of Human Genetics · 38
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An Expressed Retrogene of the Master Embryonic Stem Cell Gene POU5F1 Is Associated with Prostate Cancer Susceptibility
2014 · Joan P. Breyer, Daniel C. Dorset, et al. · The American Journal of Human Genetics · 36
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Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis
2019 · Vandana Shashi, Janelle Geist, et al. · Human Mutation · 30
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
2023 · Shyam K. Akula, Jack H. Marciano, et al. · Proceedings of the National Academy of Sciences · 29
Novel high‐throughput screens of Anopheles gambiae odorant receptors reveal candidate behaviour‐modifying chemicals for mosquitoes
2012 · DAVID C. RINKER, PATRICK L. JONES, et al. · Physiological Entomology · 29
IRF2BPL Is Associated with Neurological Phenotypes
2018 · Paul C. Marcogliese, Vandana Shashi, et al. · The American Journal of Human Genetics · 23
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A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases
2021 · Jennifer E. Kyle, Kelly G. Stratton, et al. · Scientific Data · 17
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Investigational Assay for Haplotype Phasing of the Huntingtin Gene
2020 · Nenad Svrzikapa, Kenneth A. Longo, et al. · Molecular Therapy — Methods & Clinical Development · 15
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Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy
2019 · Aashim Bhatia, Bret C. Mobley, et al. · Clinical Imaging · 10
Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
2018 · Keren Machol, Joseph Jankovic, et al. · Neurology Genetics · 8
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One is the loneliest number: genotypic matchmaking using the electronic health record
2021 · Elly Brokamp, Mary E. Koziura, et al. · Genetics in Medicine · 7
Works count: 27
Citation count: 1,463
H-index: 20
I10-index: 23
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