lab

Molecular and cellular mechanisms underlying neurodevelopmental disorders

Lab Members

Ype Elgersma
Prof.Dr. Ype Elgersma (Y)
Full Professor
Lab Head
Ben Distel
Ben Distel
Associate Professor
Edwin Mientjes
Dr. Edwin Mientjes
Postdoctoral Fellow
Diana Rotaru
Diana Rotaru
Postdoctoral Fellow
Annelot van Esbroeck
Annelot van Esbroeck
Postdoctoral Fellow
Eva Niggl
Eva Niggl
Phd Student
Anouk Heuvelmans
Anouk Heuvelmans
Phd Student
Claudia Milazzo
Claudia Milazzo
Phd Student
Antonia Belecha
Antonia Belecha
Master Student
Charlotte Kraan
Charlotte Kraan
Secretary
Minetta Elgersma Hooisma
Minetta Elgersma Hooisma
Research Technician
Wallaard Ilse
Wallaard Ilse
Research Technician
Mehrnoush Aghadavoud Jolfaei
Mehrnoush Aghadavoud Jolfaei
Research Technician

Recent Publications

Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome.

Manoubi W, Mahdouani M, Hmida D, Kdissa A, Rouissi A, Turki I, Gueddiche N, Soyah N, Saad A, Bouwkamp C, Elgersma Y, Mougou-Zerelli S, Gribaa M
in World journal of clinical cases 2024

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

Lecoquierre F, Punt AM, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks AS, van Slegtenhorst MA, Jurgens JA, Barry BJ, Chan WM, England EM, Martinez Ojeda M, Engle EC, Robson CD, Morrow M, Innes AM, Lamont R, Sanderson M, Krüger E, Thauvin C, Distel B, Faivre L, Elgersma Y, Vitobello A
in Genetics in medicine : official journal of the American College of Medical Genetics 2024

Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial.

Ottenhoff MJ, Mous SE, Castricum J, Rietman AB, Oostenbrink R, van der Vaart T, Tulen JHM, Parra A, Ramos FJ, Legius E, Moll HA, Elgersma Y, de Wit MY
in Developmental medicine and child neurology 2024

Joining forces to develop individualized antisense oligonucleotides for patients with brain or eye diseases: the example of the Dutch Center for RNA Therapeutics.

Aartsma-Rus A, Collin RWJ, Elgersma Y, Lauffer MC, van Roon-Mom W
in Therapeutic advances in rare disease 2024

UBE3A expression during early postnatal brain development is required for proper dorsomedial striatal maturation.

Rotaru DC, Wallaard I, de Vries M, van der Bie J, Elgersma Y
in JCI insight 2023

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D, Elgersma Y, van Esbroeck ACM
in American journal of human genetics 2023

Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome.

Bindels-de Heus KGCB, Hagenaar DA, Dekker I, van der Kaay DCM, Kerkhof GF, Elgersma Y, de Wit MY, Mous SE, Moll HA
in Journal of clinical medicine 2023

Bone health in children with Angelman syndrome at the ENCORE Expertise Center.

Bindels-de Heus KGCB, Hagenaar DA, Mous SE, Dekker I, van der Kaay DCM, Kerkhof GF, Elgersma Y, Moll HA, de Wit MY
in European journal of pediatrics 2023

Cortical Inhibition and Plasticity in Major Depressive Disorder.

Castricum J, Birkenhager TK, Kushner SA, Elgersma Y, Tulen JHM
in Frontiers in psychiatry 2022

A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets.

Pandya NJ, Meier S, Tyanova S, Terrigno M, Wang C, Punt AM, Mientjes EJ, Vautheny A, Distel B, Kremer T, Elgersma Y, Jagasia R
in Molecular psychiatry 2022

A novel automated approach for improving standardization of the marble burying test enables quantification of burying bouts and activity characteristics

Lucas Wahl, A. Mattijs Punt, Tara Arbab, Ingo Willuhn, Ype Elgersma, Aleksandra Badura
in eNeuro 2022

The MAP3K7 gene: further delineation of clinical characteristics and genotype/phenotype correlations.

van Woerden GM, Senden R, de Konink C, Trezza RA, Baban A, Bassetti JA, van Bever Y, Bird LM, van Bon BW, Brooks AS, Guan Q, Klee EW, Marcelis C, Rosado JM, Schimmenti LA, Shikany AR, Terhal PA, Nicole Weaver K, Wessels MW, van Wieringen H, Hurst AC, Gooch CF, Steindl K, Joset P, Rauch A, Tartaglia M, Niceta M, Elgersma Y, Demirdas S
in Human mutation 2022

From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research.

Zampeta FI, Distel B, Elgersma Y, Iping R
in Human genetics 2022

Molecular and behavioral consequences of Ube3a gene overdosage in mice.

Punt AM, Judson MC, Sidorov MS, Williams BN, Johnson NS, Belder S, den Hertog D, Davis CR, Feygin MS, Lang PF, Jolfaei MA, Curran PJ, van IJcken WF, Elgersma Y, Philpot BD
in JCI insight 2022

Adult gene reinstatement restores the learning and plasticity deficits of knockout mice.

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Vacancies

There are currently no vacancies on our lab.