Johan T den Dunnen
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Explore the profile of Johan T den Dunnen including associated specialties, affiliations and a list of published articles.
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Articles
211
Citations
10432
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Recent Articles
1.
Hart R, Fokkema I, DiStefano M, Hastings R, Laros J, Taylor R, et al.
Genome Med
. 2024 Dec;
16(1):149.
PMID: 39702242
Background: The Human Genome Variation Society (HGVS) Nomenclature is the global standard for describing and communicating variants in DNA, RNA, and protein sequences in clinical and research genomics. This manuscript...
2.
Freeman P, Wagstaff J, Fokkema I, Cutting G, Rehm H, Davies A, et al.
Nat Genet
. 2024 Oct;
56(11):2574.
PMID: 39472695
No abstract available.
3.
Freeman P, Wagstaff J, Fokkema I, Cutting G, Rehm H, Davies A, et al.
Nat Genet
. 2024 Oct;
56(11):2284-2286.
PMID: 39358598
No abstract available.
4.
Houge G, Bratland E, Aukrust I, Tveten K, Zukauskaite G, Sansovic I, et al.
Eur J Hum Genet
. 2024 May;
32(7):858-863.
PMID: 38778080
The ABC and ACMG variant classification systems were compared by asking mainly European clinical laboratories to classify variants in 10 challenging cases using both systems, and to state if the...
5.
Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, et al.
medRxiv
. 2024 May;
PMID: 38746299
Background: Pathogenic constitutional variants underlie familial adenomatous polyposis, the most common hereditary gastrointestinal polyposis syndrome. To improve variant classification and resolve the interpretative challenges of variants of uncertain significance (VUS),...
6.
Roos D, van Leeuwen K, Madkaikar M, Kambli P, Gupta M, Mathews V, et al.
Blood Cells Mol Dis
. 2023 Jan;
99:102726.
PMID: 36696755
Leukocyte adhesion deficiency (LAD) is an immunodeficiency caused by defects in the adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients with LAD suffer from...
7.
Laner A, Maver A, den Dunnen J
Hum Mutat
. 2022 Jul;
43(8):973-975.
PMID: 35839310
The journal Human Mutation has as its principal focus variants in the human genome, covering the entire spectrum from methods used to detect variants, to ways of answering the ultimate...
8.
Goncalves A, Fortuna A, Ariyurek Y, Oliveira M, Nadais G, Pinheiro J, et al.
Int J Mol Sci
. 2022 Jan;
23(1).
PMID: 35008485
While in most patients the identification of genetic alterations causing dystrophinopathies is a relatively straightforward task, a significant number require genomic and transcriptomic approaches that go beyond a routine diagnostic...
9.
Billiet B, Amati-Bonneau P, Desquiret-Dumas V, Guehlouz K, Milea D, Gohier P, et al.
Hum Mutat
. 2021 Nov;
43(2):128-142.
PMID: 34837429
Pathogenic variants of the nuclear receptor subfamily 2 group F member 1 gene (NR2F1) are responsible for Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal dominant disorder characterized by optic atrophy...
10.
Romanelli Tavares V, Guimaraes-Ramos S, Zhou Y, Masotti C, Ezquina S, Moreira D, et al.
J Med Genet
. 2021 Nov;
59(9):895-905.
PMID: 34750192
Background: Auriculocondylar syndrome (ARCND) is a rare genetic disease that affects structures derived from the first and second pharyngeal arches, mainly resulting in micrognathia and auricular malformations. To date, pathogenic...