Tilman Heinrich
Overview
Explore the profile of Tilman Heinrich including associated specialties, affiliations and a list of published articles.
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Articles
19
Citations
260
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Recent Articles
1.
Weisschuh N, Mazzola P, Zuleger T, Schaeferhoff K, Kuhlewein L, Kortum F, et al.
J Med Genet
. 2023 Sep;
61(2):186-195.
PMID: 37734845
Purpose: Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease genetics. We aimed to evaluate a scalable framework for genome-based analyses 'beyond the exome' in regular...
2.
Christensen M, Levy A, Mohammadi N, Niceta M, Kaiyrzhanov R, Dentici M, et al.
Clin Genet
. 2022 May;
102(2):98-109.
PMID: 35616059
Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from...
3.
Dufke A, Hoopmann M, Waldmuller S, Prodan N, Beck-Wodl S, Grasshoff U, et al.
Prenat Diagn
. 2022 May;
42(7):901-910.
PMID: 35574990
Objectives: To examine the diagnostic yield of trio exome sequencing in fetuses with multiple structural defects with no pathogenic findings in cytogenetic and microarray analyses. Methods: We recruited 51 fetuses...
4.
Falb R, Muller A, Klein W, Grimmel M, Grasshoff U, Spranger S, et al.
J Med Genet
. 2021 Nov;
60(1):48-56.
PMID: 34740919
Background: Fetal akinesia (FA) results in variable clinical presentations and has been associated with more than 166 different disease loci. However, the underlying molecular cause remains unclear in many individuals....
5.
Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, et al.
Int J Mol Sci
. 2021 Mar;
22(5).
PMID: 33673512
In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the gene. Patients underwent clinical examination and genetic testing...
6.
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report
Weisschuh N, Mazzola P, Heinrich T, Haack T, Wissinger B, Tonagel F, et al.
BMC Med Genet
. 2020 Nov;
21(1):236.
PMID: 33243194
Background: Dominant optic atrophy (DOA) is an inherited optic neuropathy that mainly affects visual acuity, central visual fields and color vision due to a progressive loss of retinal ganglion cells...
7.
Binder G, Ziegler J, Schweizer R, Habhab W, Haack T, Heinrich T, et al.
Clin Epigenetics
. 2020 Oct;
12(1):152.
PMID: 33076988
Background: Pathogenic CDKN1C gain-of-function variants on the maternal allele were initially reported as a cause of IMAGe syndrome characterized by intrauterine growth retardation, metaphyseal dysplasia, primary adrenal insufficiency and genital...
8.
Schmidt T, Gazou A, Riess A, Riess O, Grundmann-Hauser K, Falb R, et al.
BMC Med Educ
. 2020 Jul;
20(1):218.
PMID: 32660496
Background: Audience response systems allow to activate the audience and to receive a direct feedback of participants during lectures. Modern systems do not require any proprietary hardware anymore. Students can...
9.
Sepahi I, Faust U, Sturm M, Bosse K, Kehrer M, Heinrich T, et al.
BMC Cancer
. 2019 Aug;
19(1):787.
PMID: 31395037
Background: Inherited pathogenic variants in BRCA1 and BRCA2 are the most common causes of hereditary breast and ovarian cancer (HBOC). The risk of developing breast cancer by age 80 in...
10.
Parsons M, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadalo L, et al.
Hum Mutat
. 2019 May;
40(9):1557-1578.
PMID: 31131967
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1...