Rien Blok
Maastricht University
5 Papers
44 Citations
Rien Blok is an academic researcher from Maastricht University. The author has contributed to research in topics: Biology & Medicine. The author has an hindex of 4, co-authored 4 publications. Previous affiliations of Rien Blok include Maastricht University Medical Centre.
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Papers
Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing
Phillip J. Whiley,Phillip J. Whiley,Miguel de la Hoya,Mads Thomassen,Alexandra Becker,Rita D. Brandão,Inge Søkilde Pedersen,Marco Montagna,Mireia Menéndez,Francisco Quiles,Sara Gutiérrez-Enríquez,Kim De Leeneer,Anna Tenés,Gemma Montalban,Demis Tserpelis,Toshio F. Yoshimatsu,Carole Tirapo,Michela Raponi,Trinidad Caldés,Ana Blanco,Marta Santamariña,Lucia Guidugli,Gorka Ruiz de Garibay,Ming Wong,Mariella Tancredi,Laura Fachal,Yuan Chun Ding,Torben A Kruse,Vanessa Lattimore,Ava Kwong,Tsun Leung Chan,Mara Colombo,Giovanna De Vecchi,Maria A. Caligo,Diana Baralle,Conxi Lázaro,Fergus J. Couch,Paolo Radice,Melissa C. Southey,Susan L. Neuhausen,Claude Houdayer,Jim Fackenthal,Thomas van Overeem Hansen,Ana Vega,Orland Diez,Rien Blok,Kathleen Claes,Barbara Wappenschmidt,Logan C. Walker,Amanda B. Spurdle,Melissa A. Brown +50 more
TL;DR: A multicenter investigation to compare mRNA splicing assay protocols used by members of the ENIGMA (Evidence-Based Network for the Interpretation of Germline Mutant Alleles) consortium provides recommendations for best practice and raise key issues to consider when designing mRNA assays for evaluation of unclassified sequence variants.
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MCMV infection increases early T-lymphocyte influx in atherosclerotic lesions in apoE knockout mice.
TL;DR: MCMV infection may exacerbate the atherosclerotic process in apoE knockout mice by means of an acute lymphocytic inflammatory response.
45
Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice
Nicky S.J. Halbach,Eric Smeets,Noortje van den Braak,Kees E. P. van Roozendaal,Rien Blok,Constance T.R.M. Schrander-Stumpel,Jean-Pierre Frijns,Jean-Pierre Frijns,Marian A. Maaskant,Leopold M. G. Curfs +9 more
TL;DR: Investigating relationships between genotype and specific clinical data collected by the same experienced physician in a well‐documented RTT cohort and evaluating its prognostic value in counseling young parents with a newly diagnosed RTT girl regarding her future outcome recommended caution in using genotype–phenotype data in the prognosis of outcome for children in Rett syndrome.
37
Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group
Sarah M. Nielsen,Sarah M. Nielsen,Diana Eccles,Iris L. Romero,Fahd Al-Mulla,Judith Balmaña,Michela Biancolella,Rien Blok,Maria A. Caligo,Mariarosaria Calvello,Gabriele Lorenzo Capone,Pietro Cavalli,T. L. Chris Chan,Kathleen Claes,Laura Cortesi,Fergus J. Couch,Miguel de la Hoya,Simona De Toffol,Orland Diez,Susan M. Domchek,Ros Eeles,Anna Efremidis,Florentia Fostira,David E. Goldgar,Andreas Hadjisavvas,Thomas Hansen,Akira Hirasawa,Claude Houdayer,Petra Kleiblova,Sophie Krieger,Conxi Lázaro,Maria A. Loizidou,Siranoush Manoukian,Arjen R. Mensenkamp,Setareh Moghadasi,Alvaro N.A. Monteiro,Luigi Mori,April Morrow,Nadia Naldi,Henriette Roed Nielsen,Olufunmilayo I. Olopade,Nicholas Pachter,Edenir Inêz Palmero,Inge Søkilde Pedersen,Maria Piane,Marianna Puzzo,Mark E. Robson,Maria Rossing,Maria Christina Sini,Angela R. Solano,Jana Soukupova,Gianluca Tedaldi,Manuel R. Teixeira,Mads Thomassen,Maria Grazia Tibiletti,Amanda E. Toland,Therese Törngren,Erica Vaccari,Liliana Varesco,Ana Vega,Yvonne Wallis,Barbara Wappenschmidt,Jeffrey N. Weitzel,Amanda B. Spurdle,Arcangela De Nicolo,Encarna B. Gomez-Garcia +65 more
- 26 Oct 2018
TL;DR: A snapshot of international genetic testing practices, specifically regarding the use of multigene panels, for hereditary breast/ovarian cancers is described, showing that a small number of genes beyond BRCA1/2 are routinely analyzed worldwide, and management guidelines are limited and largely based on expert opinion.