Manuel Holtgrewe
Overview
Explore the profile of Manuel Holtgrewe including associated specialties, affiliations and a list of published articles.
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46
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1332
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Recent Articles
1.
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...
2.
Hramyka D, Sczakiel H, Zhao M, Stolpe O, Nieminen M, Adam R, et al.
Nucleic Acids Res
. 2024 May;
52(W1):W148-W158.
PMID: 38769069
In the era of high throughput sequencing, special software is required for the clinical evaluation of genetic variants. We developed REEV (Review, Evaluate and Explain Variants), a user-friendly platform for...
3.
Kopp J, Koch L, Lyubenova H, Kuchler O, Holtgrewe M, Ivanov A, et al.
Hum Genet
. 2024 Apr;
143(5):683-694.
PMID: 38592547
Generalized lipodystrophy is a feature of various hereditary disorders, often leading to a progeroid appearance. In the present study we identified a missense and a frameshift variant in a compound...
4.
Bhasin M, Knaus A, Incardona P, Schmid A, Holtgrewe M, Elbracht M, et al.
Genes (Basel)
. 2024 Mar;
15(3).
PMID: 38540429
Genomic variant prioritization is crucial for identifying disease-associated genetic variations. Integrating facial and clinical feature analyses into this process enhances performance. This study demonstrates the integration of facial analysis (GestaltMatcher)...
5.
Nieminen M, Stolpe O, Kuhring M, Weiner J, Pett P, Beule D, et al.
Gigascience
. 2023 Jul;
12.
PMID: 37498129
Scientists employing omics in life science studies face challenges such as the modeling of multiassay studies, recording of all relevant parameters, and managing many samples with their metadata. They must...
6.
Zieger H, Weinhold L, Schmidt A, Holtgrewe M, Juranek S, Siewert A, et al.
HGG Adv
. 2023 Jan;
4(1):100166.
PMID: 36589413
Non-syndromic cleft lip with/without cleft palate (nsCL/P) is a highly heritable facial disorder. To date, systematic investigations of the contribution of rare variants in non-coding regions to nsCL/P etiology are...
7.
Foddis M, Blumenau S, Holtgrewe M, Paquette K, Westra K, Alonso I, et al.
Neurobiol Aging
. 2022 Dec;
123:208-215.
PMID: 36586737
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and retinal vasculopathy with cerebral leukodystrophy and systemic manifestations (RVCL-S) are the most common forms of rare monogenic early-onset cerebral...
8.
Schopflin R, Melo U, Moeinzadeh H, Heller D, Laupert V, Hertzberg J, et al.
Nat Commun
. 2022 Oct;
13(1):6470.
PMID: 36309531
Structural variants are a common cause of disease and contribute to a large extent to inter-individual variability, but their detection and interpretation remain a challenge. Here, we investigate 11 individuals...
9.
Seidel F, Laser K, Klingel K, Dartsch J, Theisen S, Pickardt T, et al.
J Cardiovasc Dev Dis
. 2022 Jul;
9(7).
PMID: 35877578
Myocarditis is an inflammatory disease of the heart. Pediatric myocarditis with the dilated cardiomyopathy (DCM) phenotype may be caused by likely pathogenic or pathogenic genetic variants [(L)P] in cardiomyopathy (CMP)...
10.
May V, Koch L, Fischer-Zirnsak B, Horn D, Gehle P, Kornak U, et al.
Bioinformatics
. 2022 Jun;
38(16):3871-3876.
PMID: 35751599
Motivation: While the identification of small variants in panel sequencing data can be considered a solved problem, the identification of larger, multi-exon copy number variants (CNVs) still poses a considerable...