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. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. A novel automated approach for improving standardization of the marble burying test enables quantification of burying bouts and activity characteristics
in eNeuro 2022
10. Cortical Inhibition and Plasticity in Major Depressive Disorder.
Castricum J, Birkenhager TK, Kushner SA, Elgersma Y, Tulen JHM
in Frontiers in psychiatry 2022