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Ellen Otten

Explore the profile of Ellen Otten including associated specialties, affiliations and a list of published articles. Areas
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Articles 8
Citations 214
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Recent Articles
1.
Otten E, Birnie E, Ranchor A, van Langen I
Eur J Hum Genet . 2016 Jan; 24(9):1255-61. PMID: 26785833
Telemedicine applications are increasingly being introduced in patient care in various disciplines, including clinical genetics, mainly to increase access to care and to reduce time and costs for patients and...
2.
Otten E, Birnie E, Ranchor A, van Langen I
Eur J Hum Genet . 2015 Jul; 24(4):513-20. PMID: 26173963
In recent years, online counselling has been introduced in clinical genetics to increase patients' access to care and to reduce time and cost for both patients and professionals. Most telegenetics...
3.
Otten E, Birnie E, Lucassen A, Ranchor A, van Langen I
Eur J Hum Genet . 2015 Apr; 24(2):157-63. PMID: 25898928
Today's economic challenges and the changing landscape of clinical genetics are forcing us to consider alternative ways of providing genetic services, to comply with budget limitations and at the same...
4.
Maas S, Shaw A, Bikker H, Ludecke H, van der Tuin K, Badura-Stronka M, et al.
Eur J Med Genet . 2015 Mar; 58(5):279-92. PMID: 25792522
Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting...
5.
Otten E, Birnie E, Ranchor A, van Tintelen J, van Langen I
Eur J Hum Genet . 2015 Feb; 23(11):1462-7. PMID: 25649380
The introduction of next-generation sequencing in everyday clinical genetics practise is increasing the number of genetic disorders that can be confirmed at DNA-level, and consequently increases the possibilities for cascade...
6.
Otten E, Plantinga M, Birnie E, Verkerk M, Lucassen A, Ranchor A, et al.
Genet Med . 2014 Dec; 17(8):668-78. PMID: 25503495
Purpose: With rapid advances in genetic technologies, new genetic information becomes available much faster today than just a few years ago. This has raised questions about whether clinicians have a...
7.
Menko F, Aalfs C, Henneman L, Stol Y, Wijdenes M, Otten E, et al.
Fam Cancer . 2013 Mar; 12(2):319-24. PMID: 23535968
The diagnosis of Lynch syndrome can lead to the prevention of colorectal cancer through periodic colonoscopies and removal of premalignant lesions in susceptible individuals. Therefore, predisposed individuals identified by mutation...
8.
Otten E, Asimaki A, Maass A, van Langen I, van der Wal A, de Jonge N, et al.
Heart Rhythm . 2010 Apr; 7(8):1058-64. PMID: 20423733
Background: Mutations in the gene encoding desmin (DES), an intermediate filament protein, underlie a heterogeneous phenotype, which is referred to as desmin-related myopathy (DRM). Right ventricular involvement including an arrhythmogenic...