H. Bellen

Sphingolipids in neurodegenerative diseases
202333 citationsauthor #4
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
202311 citationsauthor #34
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
202327 citationsauthor #62
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.
20234 citationsauthor #28
A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins
20237 citationsauthor #26
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
202318 citationsauthor #119
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
202326 citationsauthor #23
The Voltage-Gated Sodium Channel in Drosophila, Para, Localizes to Dendrites As Well As Axons in Mechanosensitive Chordotonal Neurons
20236 citationsauthor #5
Highlighting rare disease research with a GENETICS and G3 series on genetic models of rare diseases
20230 citationsauthor #4
De novo and inherited variants in DDX39B cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital Hypotonia
20231 citationsauthor #22
Continuing a search for a diagnosis: the impact of adolescence and family dynamics
20236 citationsauthor #26
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
202317 citationsauthor #51
Aging Fly Cell Atlas Identifies Exhaustive Aging Features at Cellular Resolution
202381 citationsauthor #21
CK2α-dependent regulation of Wnt activity governs white matter development and repair
20230 citationsauthor #4
A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels
202317 citationsauthor #15
Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans
202346 citationsauthor #4
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays
20237 citationsauthor #13
Participation in a national diagnostic research study: assessing the patient experience
20234 citationsauthor #26
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
202327 citationsauthor #41
Very-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation.
202344 citationsauthor #11
Loss of Mitochondrial Enoyl CoA Reductase causes elevated ceramide levels and impairs iron metabolism
20230 citationsauthor #15
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
20235 citationsauthor #56
Daam2 phosphorylation by CK2α negatively regulates Wnt activity during white matter development and injury
20237 citationsauthor #8
Regulation of Drosophila oviduct muscle contractility by octopamine
202219 citationsauthor #10
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
202216 citationsauthor #16
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling
202227 citationsauthor #21
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
20224 citationsauthor #18
Daam2 Regulates Myelin Structure and the Oligodendrocyte Actin Cytoskeleton through Rac1 and Gelsolin
202216 citationsauthor #6
Neuronal activity induces glucosylceramide that is secreted via exosomes for lysosomal degradation in glia
202245 citationsauthor #7
eP410: De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia
20220 citationsauthor #14
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.
202223 citationsauthor #18
Lord of the fruit flies: an interview with Hugo Bellen
20222 citationsauthor #1
Exploring therapeutic strategies for infantile neuronal axonal dystrophy (INAD/PARK14)
202210 citationsauthor #11
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development
202218 citationsauthor #30
Author response: Low doses of the organic insecticide spinosad trigger lysosomal defects, elevated ROS, lipid dysregulation, and neurodegeneration in flies
20220 citationsauthor #13
ANKLE2 ‐related microcephaly: A variable microcephaly syndrome resembling Zika infection
202212 citationsauthor #25
Drosophila as a diet discovery tool for treating amino acid disorders.
20229 citationsauthor #6
The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival.
20228 citationsauthor #11
Systematic expression profiling of dprs and DIPs reveals cell surface codes in Drosophila larval motor and sensory neurons.
202215 citationsauthor #6
Autolysosomal exocytosis of lipids protect neurons from ferroptosis
202229 citationsauthor #9
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.
20225 citationsauthor #24
Glia-neuron coupling via a bipartite sialylation pathway promotes neural transmission and stress tolerance in Drosophila
20224 citationsauthor #13
De Novo Variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features
20223 citationsauthor #10
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
202217 citationsauthor #20
'Fly-ing' from rare to common neurodegenerative disease mechanisms.
202229 citationsauthor #4
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in drosophila.
202212 citationsauthor #16
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.
20221 citationsauthor #15
OXR1 STABILIZES THE RETROMER TO EXTEND LIFESPAN AND NEURONAL HEALTH BY DIETARY RESTRICTION
20220 citationsauthor #6
Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy.
202212 citationsauthor #14
Low doses of the organic insecticide spinosad trigger lysosomal defects, elevated ROS, lipid dysregulation, and neurodegeneration in flies
202233 citationsauthor #13
Promoting validation and cross-phylogenetic integration in model organism research
202212 citationsauthor #18
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
202163 citationsauthor #298
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
202130 citationsauthor #46
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies including Myoclonic Atonic Epilepsy
20214 citationsauthor #18
Low doses of the organic insecticide spinosad trigger lysosomal defects, ROS driven lipid dysregulation and neurodegeneration in flies
20211 citationsauthor #11
92 Assessment of ANKLE2 as a mediator of Zika associated microcephaly in a murine KO model
20210 citationsauthor #3
Regulation of Drosophila Visceral Muscle Contractions by Multiple, Indirect Octopaminergic and Glutamatergic Signaling Pathways
20210 citationsauthor #9
Editor's evaluation: The decoy SNARE Tomosyn sets tonic versus phasic release properties and is required for homeostatic synaptic plasticity
20210 citationsauthor #1
Editor's evaluation: Emergence of a geometric pattern of cell fates from tissue-scale mechanics in the Drosophila eye
20210 citationsauthor #1
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
202119 citationsauthor #31
ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research
202111 citationsauthor #9
Neuronal ROS-induced glial lipid droplet formation is altered by loss of Alzheimer’s disease–associated genes
2021134 citationsauthor #10
Age-Related Neuroprotection by Dietary Restriction Requires OXR1-Mediated Retromer Function
20210 citationsauthor #6
Recent insights into the role of glia and oxidative stress in Alzheimer's disease gained from Drosophila.
202120 citationsauthor #2
Rare deleterious de novo missense variants in RNF2/RING2 are associated with a neurodevelopmental disorder with unique clinical features.
202118 citationsauthor #12
Decision letter: A zebrafish screen reveals Renin-angiotensin system inhibitors as neuroprotective via mitochondrial restoration in dopamine neurons
20210 citationsauthor #1
An expanded toolkit for Drosophila gene tagging using synthesized homology donor constructs for CRISPR-mediated homologous recombination
202153 citationsauthor #13
Phosphatidylserine synthase plays an essential role in glia and affects development, as well as the maintenance of neuronal function
202125 citationsauthor #13
Systematic expression profiling of dprs and DIPs reveals cell surface codes in 1 Drosophila larval peripheral neurons 2 3
20211 citationsauthor #6
Loss of Activity-Induced Mitochondrial ATP Production Underlies the Synaptic Defects in a Drosophila Model of ALS
20216 citationsauthor #3
One is the loneliest number: genotypic matchmaking using the electronic health record
20217 citationsauthor #45
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases
20211 citationsauthor #22
Model organism databases are in jeopardy.
202111 citationsauthor #1
Editor's evaluation: Glial Nrf2 signaling mediates the neuroprotection exerted by Gastrodia elata Blume in Lrrk2-G2019S Parkinson’s disease
20210 citationsauthor #1
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
202033 citationsauthor #18
Variants in CAPZA2, a member of a F-actin capping complex, cause intellectual disability and developmental delay.
202021 citationsauthor #13
Elevated COUP-TFII expression in dopaminergic neurons accelerates the progression of Parkinson’s disease through mitochondrial dysfunction
202017 citationsauthor #7
The Daam2–VHL–Nedd4 axis governs developmental and regenerative oligodendrocyte differentiation
202027 citationsauthor #13
Novel role of dynamin‐related‐protein 1 in dynamics of ER‐lipid droplets in adipose tissue
202029 citationsauthor #14
Drosophila Voltage-Gated Sodium Channels Are Only Expressed in Active Neurons and Are Localized to Distal Axonal Initial Segment-like Domains
202046 citationsauthor #9
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
202036 citationsauthor #16
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
202041 citationsauthor #53
Use of the CRISPR‐Cas9 System in Drosophila Cultured Cells to Introduce Fluorescent Tags into Endogenous Genes
20209 citationsauthor #9
Low doses of the neonicotinoid insecticide imidacloprid induce ROS triggering neurological and metabolic impairments in Drosophila
2020136 citationsauthor #10
TFEB/Mitf links impaired nuclear import to autophagolysosomal dysfunction in C9-ALS
202058 citationsauthor #11
Solving the puzzle of Mitchell disease
20200 citationsauthor #2
Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases.
202045 citationsauthor #2
Two neuronal peptides encoded from a single transcript regulate mitochondrial complex III in Drosophila
20207 citationsauthor #10
Sphingolipids in the Pathogenesis of Parkinson's Disease and Parkinsonism.
2019107 citationsauthor #4
VAMP associated proteins are required for autophagic and lysosomal degradation by promoting a PtdIns4P-mediated endosomal pathway
201947 citationsauthor #10
Ubiquilins Regulate Autophagic Flux through mTOR Signaling and Lysosomal Acidification
2019116 citationsauthor #7
Cindr, the Drosophila Homolog of the CD2AP Alzheimer's Disease Susceptibility Gene, is Required for Synaptic Transmission and Proteostasis
20191 citationsauthor #12
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.
20198 citationsauthor #30
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
2019267 citationsauthor #39
Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity
201911 citationsauthor #6
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
201942 citationsauthor #40
Acknowledgment of Reviewers
20190 citationsauthor #173
Loss of proteins associated with amyotrophic lateral sclerosis affects lysosomal acidification via different routes
201911 citationsauthor #3
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
201957 citationsauthor #122
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
201927 citationsauthor #23

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