Concepedia

Marianne van Tienhoven

MV

6

Publications

419

Citations

6

H-Index

2002

Active since

Affiliations

Erasmus University Rotterdam(Current)

Radboud University Nijmegen

Erasmus MC

University of Basel

Institute of Molecular and Clinical Ophthalmology Basel

Marianne van Tienhoven is an author at Erasmus University Rotterdam specializing in clinical genetics, genomics, and epidemiology.

Top concepts

Publications per year

2002–2022

6

Publications

6

Human Neuropathy Target Esterase Catalyzes Hydrolysis of Membrane Lipids

Marianne van Tienhoven, Jane Atkins, Yong Li et al. · Journal of Biological Chemistry · 2002 · 187 citations · Full text

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

Terry Vrijenhoek, Ken Kraaijeveld, Martin Elferink et al. · European Journal of Human Genetics · 2015 · 89 citations · Full text

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<i>NPHP4</i> Variants Are Associated With Pleiotropic Heart Malformations

Vanessa French, Ingrid M.B.H. van de Laar, Marja W. Wessels et al. · Circulation Research · 2012 · 51 citations · Full text

Whole exome sequencing of known eye genes reveals genetic causes for high myopia

Annechien E. G. Haarman, Alberta A. H. J. Thiadens, Marianne van Tienhoven et al. · Human Molecular Genetics · 2022 · 39 citations · Full text

Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the <i>ARR3</i> gene

Ralph Mazijk, Annechien E. G. Haarman, Lies H. Hoefsloot et al. · Human Mutation · 2022 · 27 citations · Full text

, , +18

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