Martin Kehrer
Overview
Explore the profile of Martin Kehrer including associated specialties, affiliations and a list of published articles.
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20
Citations
170
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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.
Grosch S, Kehrer M, Riess O, Bevot A, Haack T
Mol Genet Genomic Med
. 2023 Oct;
12(1):e2310.
PMID: 37902276
Background: Bi-allelic variants in AFG2B (previously known as SPATA5L1) have recently been associated with a neurodevelopmental disorder with hearing loss and spasticity, as well as isolated hearing loss. We report...
3.
Szakszon K, Lourenco C, Callewaert B, Genevieve D, Rouxel F, Morin D, et al.
J Med Genet
. 2023 Aug;
61(2):132-141.
PMID: 37580113
Background: Pathogenic variants in the zinc finger protein coding genes are rare causes of intellectual disability and congenital malformations. Mutations in the gene causing GDACCF syndrome (global developmental delay, absent...
4.
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...
5.
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....
6.
Habhab W, Mau-Holzmann U, Singer S, Riess A, Kagan K, Gerbig I, et al.
Am J Med Genet A
. 2020 Aug;
182(11):2680-2684.
PMID: 32803851
Recombinant chromosome 8 (Rec8) syndrome (San Luis Valley [SLV] syndrome; OMIM #179613) is a rare chromosome disorder associated with intellectual disability, congenital heart defects, variable skeletal and urogenital anomalies, and...
7.
Park J, Colombo R, Schaferhoff K, Janiri L, Grimmel M, Sturm M, et al.
Mol Syndromol
. 2019 Oct;
10(4):195-201.
PMID: 31602191
Intellectual disability (ID) occurs in approximately 1% of the population. Over the last years, broad sequencing approaches such as whole exome sequencing (WES) substantially contributed to the definition of the...
8.
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...
9.
Kehrer M, Schaferhoff K, Bonin M, Jauch A, Bevot A, Tzschach A
Am J Med Genet A
. 2015 Jun;
167A(10):2406-10.
PMID: 26061568
Interstitial deletions encompassing chromosome bands 1p32.1p32.3 are rare. Only nine unrelated patients with partially overlapping 1p32.1p32.3 deletions of variable size and position have been reported to date. We report on...
10.
Schroeder C, Faust U, Sturm M, Hackmann K, Grundmann K, Harmuth F, et al.
Breast Cancer Res Treat
. 2015 May;
152(1):129-136.
PMID: 26022348
Multi-gene panels are used to identify genetic causes of hereditary breast and ovarian cancer (HBOC) in large patient cohorts. This study compares the diagnostic workflow in two centers and gives...