Martina C Cornel
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Explore the profile of Martina C Cornel including associated specialties, affiliations and a list of published articles.
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176
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2793
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Recent Articles
1.
van Karnebeek C, Muller A, Benkemoun L, Boussaad I, Cornel M, IntHout J, et al.
Mol Genet Metab
. 2025 Mar;
144(4):109073.
PMID: 40086177
Rare diseases affect over 400 million people worldwide, with approved treatment available for less than 6 % of these diseases. Drug repurposing is a key strategy in the development of...
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Geuverink W, Houtman D, Retel Helmrich I, Kist J, Henneman L, Cornel M, et al.
Eur J Hum Genet
. 2024 Nov;
PMID: 39609592
Following the discovery of the CRISPR-Cas technology in 2012, there has been a growing global call for public engagement regarding the potential use of human germline gene editing (HGGE). In...
4.
Kreeftenberg L, Henneman L, Ket J, Cornel M, van El C
Front Public Health
. 2024 Sep;
12:1456853.
PMID: 39346592
Introduction: Personalised prevention using genomic information requires active involvement from patients and the public, who should be well-informed and empowered to make healthcare decisions that reflect their personal values. We...
5.
Muller A, Boot E, Notermans S, Schuengel C, Henneman L, Cornel M, et al.
Orphanet J Rare Dis
. 2024 Sep;
19(1):346.
PMID: 39285396
Background: Advances in understanding the etiology of intellectual disability (ID) has led to insights in potential (targeted) treatments and personalized care. Implications of ID on health are often complex and...
6.
Cornel M, van der Meij K, van El C, Rigter T, Henneman L
Genes (Basel)
. 2024 May;
15(5).
PMID: 38790210
In many countries, some form of genetic screening is offered to all or part of the population, either in the form of well-organized screening programs or in a less formalized...
7.
Bruins D, Onstwedder S, Cornel M, Ausems M, van Mil M, Rigter T
Genes (Basel)
. 2024 Apr;
15(4).
PMID: 38674451
: Previous studies have suggested that information offered by sellers of health-related direct-to-consumer genetic tests (DTC-GTs) is often incomplete, unbalanced, or too difficult to understand. The extent to which this...
8.
Klein D, van Dijke I, van Langen I, Dondorp W, Lakeman P, Henneman L, et al.
Reprod Biomed Online
. 2024 Apr;
49(1):103857.
PMID: 38643517
Research Question: What are the main arguments of reproductive healthcare providers in favour or against their involvement in offering expanded carrier screening (ECS) for recessive disorders at fertility clinics in...
9.
den Hollander B, Rothuizen-Lindenschot M, Geertjens L, Vaz F, Brands M, Le H, et al.
Contemp Clin Trials Commun
. 2024 Mar;
38:101264.
PMID: 38533474
[This corrects the article DOI: 10.1016/j.conctc.2023.101233.].
10.
Klein Haneveld M, Hieltjes I, Langendam M, Cornel M, Gaasterland C, Van Eeghen A
Genet Med
. 2024 Jan;
26(4):101071.
PMID: 38224026
Purpose: Rare genetic neurodevelopmental disorders associated with intellectual disability require lifelong multidisciplinary care. Clinical practice guidelines may support healthcare professionals in their daily practice, but guideline development for rare conditions...