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Akademický článek

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis

Autor: Sybren M. M. Robijn, Jeroen J. Smits, Kadriye Sezer, Patrick L. M. Huygen, Andy J. Beynon, Erwin van Wijk, Hannie Kremer, Erik de Vrieze, Cornelis P. Lanting, Ronald J. E. Pennings

Publikováno v: Biomolecules, Vol 12, Iss 2, p 220 (2022)

Pathogenic missense variants in COCH are associated with DFNA9, an autosomal dominantly inherited type of progressive sensorineural hearing loss with or without vestibular dysfunction. This study is a comprehensive overview of genotype-phenotype corr

Externí odkaz: https://doaj.org/article/76007738f70f47bb8d879ea1a1a1ea33

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Akademický článek

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 12, p 6419 (2021)

A substantial proportion of subjects with autosomal recessive retinitis pigmentosa (arRP) or Usher syndrome type II (USH2) lacks a genetic diagnosis due to incomplete USH2A screening in the early days of genetic testing. These cases lack eligibility

Externí odkaz: https://doaj.org/article/55f2f711bc9c42209bd42a3775f1dbcb

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Intraday liquidity in soybean complex futures markets

Autor: Thomas A. P. de Boer, Cornelis Gardebroek, Joost M. E. Pennings, Andres Trujillo‐Barrera

Publikováno v: Journal of Futures Markets 42 (2022) 7
Journal of Futures Markets, 42(7), 1189-1211
Journal of Futures Markets, 42(7), 1189-1211. John Wiley & Sons Inc.

We examine persistence and cross-market liquidity spillovers in the Chicago Mercantile Exchange soybean complex futures markets. A multidimensional liquidity measure is derived from the limit-order-book, and a Vector Heterogeneous Autoregressive mode

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6a3ebce459e68edeeda76293e0fe042
https://doi.org/10.1002/fut.22325

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Unravelling the JPMorgan spoofing case using particle physics visualization methods

Autor: Philippe Debie, Cornelis Gardebroek, Stephan Hageboeck, Paul van Leeuwen, Lorenzo Moneta, Axel Naumann, Joost M. E. Pennings, Andres A. Trujillo‐Barrera, Marjolein E. Verhulst

Publikováno v: European financial management 29 (2023) 1
European financial management, 29(1), 288-326
European Financial Management, 29(1), 288-326. Wiley-Blackwell

On 29 September 2020, JPMorgan was ordered to pay a settlement of $920.2 million for spoofing the metals and Treasury futures markets from 2008 to 2016. We examine these cases using a visualization method developed in particle physics (CERN) and the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::665041dc158e415e515f167f64060794
https://research.wur.nl/en/publications/unravelling-the-jpmorgan-spoofing-case-using-particle-physics-vis

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Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38

Autor: Hedwig M. Velde, Xanne J. J. Huizenga, Helger G. Yntema, Lonneke Haer-Wigman, Andy J. Beynon, Jaap Oostrik, Sjoert A. H. Pegge, Hannie Kremer, Cris P. Lanting, Ronald J. E. Pennings

Publikováno v: Genes, 14, 2
Genes
Volume 14
Issue 2
Pages: 457
Genes, 14

Contains fulltext : 290751.pdf (Publisher’s version ) (Open Access) The aim of this study is to contribute to a better description of the genotypic and phenotypic spectrum of DFNA6/14/38 and aid in counseling future patients identified with this va

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce11472bfbfc800226e7451483024ec1
https://hdl.handle.net/2066/290751

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Akademický článek

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Analysis of Rotterdam Study cohorts confirms a previously identifiedRIPOR2in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Netherlands

Autor: Hedwig M Velde, Nienke C Homans, André Goedegebure, Cornelis P Lanting, Ronald J E Pennings, Hannie Kremer

Publikováno v: Journal of Medical Genetics. :jmg-2023

BackgroundA 12-nucleotideRIPOR2in-frame deletion was recently identified as a relatively common and highly penetrant cause of autosomal dominant non-syndromic sensorineural hearing loss, type DFNA21, in the Netherlands. The associated hearing phenoty

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3518ac8668c49cba72fe84f7fc04d908
https://doi.org/10.1136/jmg-2023-109146

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Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

Publikováno v: Human Genetics, 141, 11, pp. 1723-1738
Human Genetics, 141, 1723-1738

Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or without vestibular dysfunction. It is highly heterogeneous both clinically and genetically. Re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06cf4ad4fff1a689f51e7f408ecfb9b4
https://repository.ubn.ru.nl/handle/2066/287277

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