Claus-Eric Ott
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Explore the profile of Claus-Eric Ott including associated specialties, affiliations and a list of published articles.
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38
Citations
707
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Recent Articles
1.
Schottmann G, Martinez Almudever C, Knop J, Suk E, Meyer Z, Kohlhase J, et al.
Front Neurosci
. 2024 Dec;
18:1488133.
PMID: 39723426
Introduction: Cohen syndrome (CS) is an early-onset pediatric neurodevelopmental disorder characterized by postnatal microcephaly and intellectual disability. An accurate diagnosis for individuals with CS is crucial, particularly for their caretakers...
2.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh T, et al.
Nat Genet
. 2024 Jul;
56(8):1644-1653.
PMID: 39039281
Individuals with ultrarare disorders pose a structural challenge for healthcare systems since expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, a 3-year prospective study, we evaluated a...
3.
Habringer S, Ihlow J, Kleo K, Klostermann A, Schmidt M, Chai L, et al.
Oncologist
. 2024 Jun;
29(10):908-912.
PMID: 38886160
A patient with gastrointestinal stroma tumor (GIST) and KIT p.V559D and BRAF p.G469A alterations was referred to our institutional molecular tumor board (MTB) to discuss therapeutic implications. The patient had...
4.
Reiter A, Pantel J, Danyel M, Horn D, Ott C, Mensah M
J Med Internet Res
. 2024 Mar;
26:e42904.
PMID: 38477981
Background: While characteristic facial features provide important clues for finding the correct diagnosis in genetic syndromes, valid assessment can be challenging. The next-generation phenotyping algorithm DeepGestalt analyzes patient images and...
5.
Gottschalk A, Sczakiel H, Hulsemann W, Schwartzmann S, Abad-Perez A, Grunhagen J, et al.
Genet Med
. 2023 Jul;
25(11):100928.
PMID: 37427568
Purpose: HOXD13 is an important regulator of limb development. Pathogenic variants in HOXD13 cause synpolydactyly type 1 (SPD1). How different types and positions of HOXD13 variants contribute to genotype-phenotype correlations,...
6.
Hakkaart C, Pearson J, Marquart L, Dennis J, Wiggins G, Barnes D, et al.
Commun Biol
. 2022 Oct;
5(1):1061.
PMID: 36203093
The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis...
7.
Dumont M, Weber-Lassalle N, Joly-Beauparlant C, Ernst C, Droit A, Feng B, et al.
Cancers (Basel)
. 2022 Jul;
14(14).
PMID: 35884425
Rare variants in at least 10 genes, including BRCA1, BRCA2, PALB2, ATM, and CHEK2, are associated with increased risk of breast cancer; however, these variants, in combination with common variants...
8.
Mensah M, Ott C, Horn D, Pantel J
Lancet Digit Health
. 2022 Apr;
4(5):e295.
PMID: 35461687
No abstract available.
9.
Busack B, Ott C, Henrich W, Verlohren S
Arch Gynecol Obstet
. 2020 Oct;
303(4):943-953.
PMID: 33090266
Purpose: Fetal arthrogryposis multiplex congenita (AMC) describes a heterogeneous disease entity characterized by multiple contractures affecting at least two different body areas. The aim of our study was to identify...
10.
Pantel J, Hajjir N, Danyel M, Elsner J, Abad-Perez A, Hansen P, et al.
J Med Internet Res
. 2020 Oct;
22(10):e19263.
PMID: 33090109
Background: Collectively, an estimated 5% of the population have a genetic disease. Many of them feature characteristics that can be detected by facial phenotyping. Face2Gene CLINIC is an online app...