Marjolein Kriek
Universiteit Leiden
H-index: 32
Europe-Netherlands
Top articles of Marjolein Kriek
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis | Human Genetics | Brett M Colbert Cris Lanting Molly Smeal Susan Blanton Derek M Dykxhoorn | 2024/4/30 |
Refining the 9q34. 3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile | Clinical Genetics | Dmitrijs Rots Kathleen Rooney Raissa Relator Jennifer Kerkhof Haley McConkey | 2024/2/21 |
A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study | The Lancet | Jesse J Swen Cathelijne H van der Wouden Lisanne EN Manson Heshu Abdullah-Koolmees Kathrin Blagec | 2023/2/4 |
P301 Novel JAG2 variants in the first identified Dutch patient with limb-girdle muscular dystrophy R27 and a neuropsychiatric phenotype | Neuromuscular Disorders | E Schrama E Niks S van Duinen N van der Beek M Kriek | 2023/10/1 |
The patient with 41 reports: Analysis of laboratory exome sequencing reporting of a “virtual patient” | Genetics in Medicine | Danya F Vears Martin Elferink Marjolein Kriek Pascal Borry Koen L van Gassen | 2022/6/1 |
Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease | Sanne CC Vincenten Nienke Van Der Stoep Aimée DC Paulussen Karlien Mul Umesh A Badrising | 2022/2 | |
Analysis of laboratory reporting practices using a quality assessment of a virtual patient | Genetics in Medicine | Danya F Vears Martin Elferink Marjolein Kriek Pascal Borry Koen L van Gassen | 2021/3/1 |
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia | European Journal of Human Genetics | Maartje Pennings Meyke I Schouten Judith van Gaalen Rowdy PP Meijer Susanne T de Bot | 2020/1 |
Generating evidence for precision medicine: considerations made by the Ubiquitous Pharmacogenomics Consortium when designing and operationalizing the PREPARE study | Pharmacogenetics and Genomics | Cathelijne H van der Wouden Stefan Böhringer Erika Cecchin Ka-Chun Cheung Cristina Lucía Dávila-Fajardo | 2020/8/1 |
ATR-16 syndrome: mechanisms linking monosomy to phenotype | Journal of Medical Genetics | Christian Babbs Jill Brown Sharon W Horsley Joanne Slater Evie Maifoshie | 2020/6/1 |
De Novo Subtelomeric 6p25. 3 Deletion with Duplication of 6q23. 3-q27: Genotype–Phenotype Correlation | Journal of Pediatric Genetics | Emine Ikbal Atli Hakan Gurkan Engin Atli Ulfet Vatansever Betul Acunas | 2020/3 |
Repurposing of diagnostic whole exome sequencing data of 1,583 individuals for clinical pharmacogenetics | Clinical Pharmacology & Therapeutics | Maaike van der Lee William G. Allard Sander Bollen Gijs W.E. Santen Claudia A.L. Ruivenkamp | 2019/10/8 |
Dutch national consensus-based guideline for the disclosure of incidental findings during clinical genetic diagnostic testing | D Stemkens HT Brüggenwirth S van der Crabben MW Elting I Feenstra | 2020 | |
Technologies for pharmacogenomics: a review | Maaike van der Lee Marjolein Kriek Henk-Jan Guchelaar Jesse J Swen | 2020/12/4 |
