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Genetics

D-Index
67
Citations
15750
World Ranking
2536
National Ranking
96

Overview

Ronald Roepman is affiliated with Radboud University in the Netherlands and has contributed extensively to the fields of biochemistry, genetics, and molecular biology, with a particular focus on molecular biology, genetics, and cell biology. Their research portfolio includes 76 publications within these domains.

Their work covers several specialized subfields, including molecular biology, genetics, cell biology, ophthalmology, and materials chemistry. The main topics Ronald Roepman has addressed include genetic and kidney cyst diseases, retinal development and disorders, microtubule and mitosis dynamics, cellular transport and secretion, protist diversity and phylogeny, fetal and pediatric neurological disorders, and retinal diseases and treatments.

Roepman's research contributions have been published in multiple venues, with frequent publications in the following journals and platforms:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Cellular and Molecular Life Sciences
  • Acta Neuropathologica Communications
  • European Journal of Human Genetics
  • EMPIAR dataset

Some of the recent papers associated with or relevant to their research context include:

  • Artificial intelligence: A powerful paradigm for scientific research, 2021, The Innovation
  • A look into retinal organoids: methods, analytical techniques, and applications, 2021, Cellular and Molecular Life Sciences
  • CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module, 2020, Nature Communications
  • Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome, 2020, Journal of Clinical Investigation
  • PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation, 2020, Proceedings of the National Academy of Sciences

Collaboration plays a role in Roepman's scientific output, with frequent co-authors including:

  • Karsten Boldt
  • Rob W.J. Collin
  • Katrin Junger
  • Marius Ueffing
  • Mariam G. Aslanyan

Best Publications

  • Leber congenital amaurosis: genes, proteins and disease mechanisms.

    Anneke I. den Hollander;Ronald Roepman;Robert K. Koenekoop;Frans P.M. Cremers

  • Artificial Intelligence: A Powerful Paradigm for Scientific Research

    Yongjun Xu;Xin Liu;Xin Cao;Changping Huang

  • Non-syndromic retinitis pigmentosa

    Sanne K. Verbakel;Ramon A.C. van Huet;Camiel J.F. Boon;Anneke I. den Hollander

  • Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

    Moumita Chaki;Rannar Airik;Amiya K. Ghosh;Rachel H. Giles

  • Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

    Heleen H Arts;Dan Doherty;Sylvia E C van Beersum;Melissa A Parisi

  • Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

    Miriam Schmidts;Yuqing Hou;Claudio R. Cortes;Dorus A. Mans

  • Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

    Edgar A Otto;Toby W Hurd;Rannar Airik;Moumita Chaki

  • A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells

    Tina Maerker;Erwin van Wijk;Nora Overlack;Ferry F.J. Kersten

  • Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

    Christian Gilissen;Heleen H. Arts;Alexander Hoischen;Liesbeth Spruijt

  • Usher syndrome: molecular links of pathogenesis, proteins and pathways

    Hannie Kremer;Erwin van Wijk;Tina Märker;Uwe Wolfrum

  • DYX1C1 is required for axonemal dynein assembly and ciliary motility

    Aarti Tarkar;Niki T. Loges;Christopher E. Slagle;Richard Francis

  • A novel tandem affinity purification strategy for the efficient isolation and characterisation of native protein complexes.

    Christian Johannes Gloeckner;Karsten Boldt;Annette Schumacher;Ronald Roepman

  • CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

    Nicholas T. Gorden;Heleen H. Arts;Melissa A. Parisi;Karlien L.M. Coene

  • Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

    Cecilie Bredrup;Sophie Saunier;Sophie Saunier;MacHteld M. Oud;Torunn Fiskerstrand;Torunn Fiskerstrand

  • The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

    Erwin van Wijk;Bert van der Zwaag;Theo Peters;Ulrike Zimmermann

  • CRB1 mutation spectrum in inherited retinal dystrophies.

    Anneke I. den Hollander;Jason Davis;Saskia D. van der Velde-Visser;Marijke N. Zonneveld

  • An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

    Gabrielle Wheway;Miriam Schmidts;Dorus A. Mans;Katarzyna Szymanska

  • Positional cloning of the gene for x-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

    R. Roepman;G. Van Duijnhoven;T. Rosenberg;A. J. L. G. Pinckers

  • The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

    Ronald Roepman;Nathalie Bernoud-Hubac;Diana E. Schick;Alessandra Maugeri

  • An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

    Boldt K;van Reeuwijk J;Lu Q;Koutroumpas K

Frequent Co-Authors

marius ueffing
marius ueffing University of Tübingen
Frans P.M. Cremers
Frans P.M. Cremers Radboud University
Uwe Wolfrum
Uwe Wolfrum Johannes Gutenberg University of Mainz
Hannie Kremer
Hannie Kremer Radboud University
Anneke I. den Hollander
Anneke I. den Hollander Radboud University
Rachel H. Giles
Rachel H. Giles Utrecht University
Nicholas Katsanis
Nicholas Katsanis Galatea Bio Inc
Nine V.A.M. Knoers
Nine V.A.M. Knoers University Medical Center Groningen
Hannah M. Mitchison
Hannah M. Mitchison University College London
Robert K. Koenekoop
Robert K. Koenekoop McGill University Health Centre

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