H
Hester Y. Kroes
Researcher at Utrecht University
Publications - 61
Citations - 3167
Hester Y. Kroes is an academic researcher from Utrecht University. The author has contributed to research in topics: Joubert syndrome & Gene. The author has an hindex of 27, co-authored 55 publications receiving 2712 citations. Previous affiliations of Hester Y. Kroes include University Medical Center Utrecht & Radboud University Nijmegen Medical Centre.
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Journal ArticleDOI
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,Stef J.F. Letteboer,Nicholas T. Gorden,Theo A. Peters,Tina Märker,Krysta Voesenek,Aileen Kartono,Hamit Özyürek,Federico M. Farin,Hester Y. Kroes,Uwe Wolfrum,Han G. Brunner,Frans P.M. Cremers,Ian A. Glass,Nine V A M Knoers,Ronald Roepman +18 more
TL;DR: This work identifies RPGRIP1L as a gene responsible for JBTS and establishes a central role for cilia and basal bodies in the pathophysiology of this disorder.
Journal ArticleDOI
Disclosure of individual genetic data to research participants: the debate reconsidered.
Annelien L. Bredenoord,Hester Y. Kroes,Edwin Cuppen,Michael Parker,Johannes J. M. van Delden +4 more
TL;DR: The debate should no longer address whether genetic research results should be returned, but instead how best to make an appropriate selection and how to strike a balance between the possible benefits of disclosure and the harms of unduly hindering biomedical research.
Journal ArticleDOI
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype.
Jet Bliek,Paulien A Terhal,Marie-José van den Bogaard,Saskia M. Maas,Ben C.J. Hamel,Georgette B. Salieb-Beugelaar,Marleen Simon,Tom G.W. Letteboer,Jasper J. van der Smagt,Hester Y. Kroes,Marcel M.A.M. Mannens +10 more
TL;DR: It is shown that complete hypomethylation of the H19 promoter is found in two of three patients with the full clinical spectrum of Silver-Russell syndrome, which is also characterized by growth retardation and asymmetry, among other clinical features.
Journal ArticleDOI
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
Karlien L.M. Coene,Ronald Roepman,Dan Doherty,Bushra Afroze,Hester Y. Kroes,Stef J.F. Letteboer,Lock Hock Ngu,Bartłomiej Budny,Erwin van Wijk,Nicholas T. Gorden,Malika Azhimi,Christel Thauvin-Robinet,Joris A. Veltman,Mireille Boink,Tjitske Kleefstra,Frans P.M. Cremers,Hans van Bokhoven,Arjan P.M. de Brouwer +17 more
TL;DR: It is shown that X-linked recessive mutations in OFD1 reduce, but do not eliminate, the interaction with lebercilin, whereas X- linked dominant OFD 1 mutations completely abolish binding to lebercalin, which offers a molecular explanation for the phenotypic spectrum observed forOFD1 mutations.
Journal ArticleDOI
Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectrum
Verena Matejas,Bernward B. Hinkes,Bernward B. Hinkes,Faisal F. Alkandari,Lihadh Al-Gazali,Ellen E. Annexstad,Mehmet Baha Aytac,Margaret Barrow,Květa Bláhová,Detlef Bockenhauer,Hae Il H.I. Cheong,Iwona Maruniak-Chudek,Pierre Cochat,Jörg Dötsch,Priya Gajjar,Raoul C.M. Hennekam,Françoise Janssen,Mikhail Kagan,Ariana Kariminejad,Markus J. Kemper,Jens Koenig,Jillene J. Kogan,Hester Y. Kroes,Eberhard Kuwertz-Bröking,Amy Feldman Lewanda,Ana Medeira,Jutta Muscheites,Patrick Niaudet,Michel M. Pierson,Anand A. Saggar,Laurie L. Seaver,Mohnish Suri,Alexey A. Tsygin,Elke Wühl,Aleksandra Zurowska,Steffen Uebe,Friedhelm Hildebrandt,Corinne Antignac,Martin Zenker,Martin Zenker +39 more
TL;DR: The majority of disease‐causing LAMB2 mutations are truncating, consistent with the hypothesis that loss of laminin β2 function is the molecular basis of Pierson syndrome.