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Y. Elgersma · SciRah

Researcher profile · Semantic Scholar

Y. Elgersma

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Y. Elgersma — researcher profile on SciRah

h-index: 59
Works: 230
Citations: 11K

Most-cited papers

A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants
Monica Sonzogni, Ilse Wallaard, S. Santos, Jenina Kingma +3 more
2018Molecular Autism100 citations Open access
Semantic Scholar
A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex
I. Overwater, André B. Rietman, S. Mous, K. Bindels-de Heus +7 more
2019Neurology94 citations Open access
Semantic Scholar
Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome
Rossella Avagliano Trezza, Monica Sonzogni, Stijn N. V. Bossuyt, F. I. Zampeta +15 more
2019Nature Neuroscience87 citations Open access
Semantic Scholar
An overview of health issues and development in a large clinical cohort of children with Angelman syndrome
K. Bindels-de Heus, S. Mous, Maartje ten Hooven-Radstaake, Bianca M. van Iperen-Kolk +7 more
2019American Journal of Medical Genetics. Part A81 citations Open access
Semantic Scholar
Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model
Claudia Milazzo, E. Mientjes, Ilse Wallaard, S. Rasmussen +7 more
2021JCI Insight77 citations Open access
Semantic Scholar
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability
M. Reijnders, M. Kousi, G. V. van Woerden, M. Klein +17 more
2017Nature Communications77 citations Open access
Semantic Scholar
CAMK2-Dependent Signaling in Neurons Is Essential for Survival
Martijn J. Kool, M. Proietti-Onori, Nils Z. Borgesius, Jolet E. van de Bree +8 more
2019Journal of Neuroscience74 citations Open access
Semantic Scholar
Angelman syndrome: from mouse models to therapy.
D. Rotaru, E. Mientjes, Y. Elgersma
2020Neuroscience71 citations Open access
Semantic Scholar
Adult Ube3a Gene Reinstatement Restores the Electrophysiological Deficits of Prefrontal Cortex Layer 5 Neurons in a Mouse Model of Angelman Syndrome
D. Rotaru, Geeske M. van Woerden, Ilse Wallaard, Y. Elgersma
2018Journal of Neuroscience70 citations Open access
Semantic Scholar
Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia
F. D. de Vrij, C. Bouwkamp, N. Gunhanlar, G. Shpak +39 more
2018Molecular Psychiatry66 citations Open access
Semantic Scholar
Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology
N. Pandya, Cong-Wei Wang, Veronica Costa, Paul Lopatta +19 more
2021Cell Reports Medicine59 citations Open access
Semantic Scholar
The continued need for animals to advance brain research.
J. Homberg, R. Adan, N. Alenina, Antonis Asiminas +70 more
2021Neuron58 citations Open access
Semantic Scholar
Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1)
S. Eijk, S. Mous, G. Dieleman, B. Dierckx +8 more
2018Journal of Autism and Developmental Disorders56 citations Open access
Semantic Scholar
Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes
Monica Sonzogni, Johanna E. Hakonen, Mireia Bernabé Kleijn, Sara Silva-Santos +4 more
2019Molecular Autism52 citations Open access
Semantic Scholar
UBE3A reinstatement as a disease‐modifying therapy for Angelman syndrome
Y. Elgersma, Monica Sonzogni
2021Developmental Medicine & Child Neurology47 citations Open access
Semantic Scholar
RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity
M. Proietti-Onori, Linda M. C. Koene, Carmen B. Schäfer, M. Nellist +4 more
2021PLoS Biology43 citations Open access
Semantic Scholar
The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function
M. Proietti-Onori, Balwina Koopal, D. Everman, Jessica D. Worthington +10 more
2018Human Mutation43 citations Open access
Semantic Scholar
Effects of antiepileptic drugs in a new TSC/mTOR‐dependent epilepsy mouse model
Linda M. C. Koene, Saskia E. van Grondelle, M. Proietti-Onori, Ilse Wallaard +4 more
2019Annals of Clinical and Translational Neurology41 citations Open access
Semantic Scholar
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development
Geeske M. van Woerden, Melanie Bos, C. de Konink, B. Distel +43 more
2021Human Mutation38 citations Open access
Semantic Scholar
Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice
Matthew C. Judson, Charles Shyng, Jeremy M. Simon, C. Davis +8 more
2021JCI Insight37 citations Open access
Semantic Scholar
Unlike dietary restriction, rapamycin fails to extend lifespan and reduce transcription stress in progeroid DNA repair‐deficient mice
M. Birkisdóttir, D. Jaarsma, R. Brandt, S. Barnhoorn +13 more
2021Aging Cell36 citations Open access
Semantic Scholar
How the COVID-19 pandemic highlights the necessity of animal research
L. Genzel, R. Adan, A. Berns, J. J. van den Beucken +78 more
2020Current Biology35 citations Open access
Semantic Scholar
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
F. Ebstein, S. Küry, V. Most, C. Rosenfelt +70 more
2023Science Translational Medicine34 citations Open access
Semantic Scholar
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1
M. Ottenhoff, A. Rietman, S. Mous, E. Plasschaert +10 more
2020Genetics in Medicine34 citations Open access
Semantic Scholar
Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations
Stijn N. V. Bossuyt, A. Punt, Ilona J. de Graaf, J. van den Burg +4 more
2021Human Molecular Genetics33 citations Open access
Semantic Scholar
Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models
J. Schreiber, Laura-Anne Grimbergen, I. Overwater, T. van der Vaart +6 more
2017Scientific Reports33 citations Open access
Semantic Scholar
Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome
Monica Sonzogni, Peipei Zhai, E. Mientjes, Geeske M. van Woerden +1 more
2020Molecular Autism31 citations Open access
Semantic Scholar
Ube3a loss increases excitability and blunts orientation tuning in the visual cortex of Angelman syndrome model mice.
Michael L. Wallace, Geeske M. van Woerden, Y. Elgersma, S. Smith +1 more
2017Journal of Neurophysiology31 citations Open access
Semantic Scholar
Enhanced Transmission at the Calyx of Held Synapse in a Mouse Model for Angelman Syndrome
Tiantian Wang, Geeske M. van Woerden, Y. Elgersma, J. G. G. Borst
2018Frontiers in Cellular Neuroscience30 citations Open access
Semantic Scholar
Improvement of ubiquitylation site detection by Orbitrap mass spectrometry.
L. van der Wal, K. Bezstarosti, Karen A. Sap, D. Dekkers +4 more
2018Journal of Proteomics30 citations Open access
Semantic Scholar
Clinical aspects of a large group of adults with Angelman syndrome
Inge den Besten, Rianne de Jong, Amber Geerts-Haages, H. Bruggenwirth +5 more
2020American Journal of Medical Genetics. Part A25 citations Open access
Semantic Scholar
Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms
F. I. Zampeta, Monica Sonzogni, Eva Niggl, B. Lendemeijer +5 more
2020Human Molecular Genetics25 citations Open access
Semantic Scholar
A brain proteomic investigation of rapamycin effects in the Tsc1+/− mouse model
Hendrik Wesseling, Y. Elgersma, S. Bahn
2017Molecular Autism24 citations Open access
Semantic Scholar
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Eva Niggl, A. Bouman, L. Briere, R. Hoogenboezem +34 more
2023American Journal of Human Genetics21 citations Open access
Semantic Scholar
Molecular and behavioral consequences of Ube3a gene overdosage in mice
A. Punt, Matthew C. Judson, Michael S. Sidorov, Brittany Williams +11 more
2022JCI Insight21 citations Open access
Semantic Scholar
A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets
N. Pandya, Sonja Meier, S. Tyanova, M. Terrigno +8 more
2022Molecular Psychiatry20 citations Open access
Semantic Scholar
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor
Raman Kumar, Elizabeth A. Palmer, A. Gardner, R. Carroll +24 more
2020Frontiers in Molecular Neuroscience19 citations Open access
Semantic Scholar
The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons
I. Tonazzini, Geeske M. van Woerden, Cecilia Masciullo, E. Mientjes +2 more
2019Molecular Autism18 citations Open access
Semantic Scholar
Multidimensional analysis of behavior predicts genotype with high accuracy in a mouse model of Angelman syndrome
Joseph K. Tanas, Devante D. Kerr, Li Wang, Anika Rai +3 more
2022Translational Psychiatry17 citations Open access
Semantic Scholar
Identifying the temporal electrophysiological and molecular changes that contribute to TSC-associated epileptogenesis
Linda M. C. Koene, Eva Niggl, Ilse Wallaard, M. Proietti-Onori +2 more
2021JCI Insight16 citations Open access
Semantic Scholar
MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders
S. Borrie, E. Plasschaert, Z. Callaerts-Végh, A. Yoshimura +5 more
2021Molecular Autism16 citations Open access
Semantic Scholar
Modulation of Murine Olivary Connexin 36 Gap Junctions by PKA and CaMKII
Paolo Bazzigaluppi, S. Isenia, E. Haasdijk, Y. Elgersma +3 more
2017Frontiers in Cellular Neuroscience16 citations Open access
Semantic Scholar
UBE3A promotes foam cell formation and counters remyelination by targeting ABCA1 for proteasomal degradation
Melanie Loix, Sam Vanherle, Laura Bolkaerts, Sanne G. S. Verberk +12 more
2025Nature Communications15 citations Open access
Semantic Scholar
UBE3A expression during early postnatal brain development is required for proper dorsomedial striatal maturation
D. Rotaru, Ilse Wallaard, Maud de Vries, Julia van der Bie +1 more
2023JCI Insight15 citations Open access
Semantic Scholar
Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function
Rossella Avagliano Trezza, A. Punt, E. Mientjes, M. van den Berg +6 more
2020Scientific Reports14 citations Open access
Semantic Scholar
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations
Geeske M. van Woerden, R. Senden, C. de Konink, R. A. Trezza +25 more
2022Human Mutation13 citations Open access
Semantic Scholar
A Novel Automated Approach for Improving Standardization of the Marble Burying Test Enables Quantification of Burying Bouts and Activity Characteristics
Lucas Wahl, A. Punt, T. Arbab, I. Willuhn +2 more
2021eNeuro13 citations Open access
Semantic Scholar
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome
Amber Geerts-Haages, Stijn N. V. Bossuyt, Inge den Besten, H. Bruggenwirth +7 more
2020Molecular Genetics & Genomic Medicine12 citations Open access
Semantic Scholar
Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia
G. Heimer, Geeske M. Woerden, O. Barel, D. Marek-Yagel +10 more
2020Human Mutation11 citations Open access
Semantic Scholar
Considerations for Clinical Therapeutic Development of Statins for Neurodevelopmental Disorders
M. Ottenhoff, Lianne C. Krab, Y. Elgersma
2020eNeuro10 citations Open access
Semantic Scholar

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