M
Marina P Hommersom
Researcher at Radboud University Nijmegen
Publications - 4
Citations - 48
Marina P Hommersom is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Exome sequencing & Compound heterozygosity. The author has co-authored 4 publications.
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Journal ArticleDOI
Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.
Katrin Linda,Elly Lewerissa,Anouk H.A. Verboven,Michele Gabriele,Michele Gabriele,Michele Gabriele,Monica Frega,Teun M. Klein Gunnewiek,Lynn Devilee,Edda Ulferts,Marina P Hommersom,Astrid R. Oudakker,Chantal Schoenmaker,Hans van Bokhoven,Dirk Schubert,Giuseppe Testa,Giuseppe Testa,David A. Koolen,Bert B.A. de Vries,Nael Nadif Kasri +19 more
TL;DR: In this article, the authors investigated the role in autophagy of KANSL1, a member of the nonspecific lethal complex, which acetylates histone H4 on lysine 16 (H4K16ac) to facilitate transcriptional activation.
Journal ArticleDOI
The complexities of CACNA1A in clinical neurogenetics.
Marina P Hommersom,Teije van Prooije,Maartje Pennings,Meyke Schouten,Hans van Bokhoven,Erik-Jan Kamsteeg,Bart P.C. van de Warrenburg +6 more
TL;DR: In this paper, targeted and clinical exome sequencing in a center has identified 41 CACNA1A variants, with most phenotypes ranging from episodic or progressive ataxia to more complex ataxias syndromes, as well as intellectual disability and epilepsy.
Journal ArticleDOI
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
Daniel L. Polla,Daniel L. Polla,Andrew C. Edmondson,Sandrine Duvet,Michael E. March,Ana Berta Sousa,Anna Lehman,Dmitriy Niyazov,Fleur S van Dijk,Serwet Demirdas,Marjon van Slegtenhorst,Anneke J.A. Kievit,Céline Schulz,Linlea Armstrong,Xin Bi,Daniel J. Rader,Daniel J. Rader,Kosuke Izumi,Elaine H. Zackai,Elisa De Franco,Paula Jorge,Sophie C. Huffels,Marina P Hommersom,Sian Ellard,Dirk Lefeber,Avni Santani,Avni Santani,Nicholas J. Hand,Hans van Bokhoven,Miao He,Arjan P.M. de Brouwer +30 more
TL;DR: In this paper, a combination of exome sequencing and gene matching was used to identify seven independent families with 11 individuals with bi-allelic protein-truncating variants and one individual with a compound heterozygous missense variant in EDEM3.
Journal ArticleDOI
Human Induced Pluripotent Stem Cell-Based Modelling of Spinocerebellar Ataxias.
Marina P Hommersom,Ronald A.M. Buijsen,Willeke M. C. van Roon-Mom,Bart P.C. van de Warrenburg,Hans van Bokhoven +4 more
TL;DR: A review of recent findings from studies using human induced pluripotent stem cells (hiPSC) based modelling of dominant spinocerebellar ataxias is presented in this paper.