contact
- y.elgersma@erasmusmc.nl
- +31 (0)10 7043337
- Room: Ee1438a
- Dr. Molewaterplein 40, NL-3015 GE Rotterdam
Prof.Dr. Ype Elgersma (Y)
- Position: Prof, Full Professor, Erasmus MC
- Lab Head in:
Publications
1. The effect of lamotrigine on cortical inhibition and plasticity in Neurofibromatosis type 1: Exploratory analysis of a randomized controlled trial (NF1-EXCEL).
Ottenhoff MJ, Heuvelmans A, Castricum J, Tulen JH, Rens G, Fujiyama H, Levin O, Swinnen SP, Moll HA, Wit MY, Elgersma Y
in Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2025
2. UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects.
Milazzo C, Narayanan R, Badillo S, Wang S, Almand R, Monshouwer R, Tzouros M, Golling S, Mientjes E, Chamberlain S, Kremer T, Elgersma Y
in Molecular autism 2025
3. Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position.
in Human molecular genetics 2025
4. Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Küry S, Stanton JE, van Woerden GM, Bosc-Rosati A, Hsieh TC, Bray L, Oloudé M, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel FG, Wolfgramm S, Florenceau L, Cuinat S, Marsac S, Verrès Y, Dangoumau A, Poirier L, Wentzensen IM, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter MS, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson LC, Costin C, Abdulrazak A, Jobling RK, Pappas J, Rabin R, Niyazov D, Chun-Hui Tsai A, Kovak K, Beck DB, Malicdan MCV, Adams DR, Wolfe L, Ganetzky RD, Muraresku CC, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Saif HA, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton MJ, Bryson LJ, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Langas SJ, McRae AM, Lessard MK, D
in Nature communications 2025
5. 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
6. 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
7. 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
8. 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
9. 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
10. 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