Ute Grasshoff
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Explore the profile of Ute Grasshoff including associated specialties, affiliations and a list of published articles.
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46
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949
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Recent Articles
11.
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...
12.
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....
13.
Konig A, Sabir H, Strizek B, Gembruch U, Herberg U, Bertrand M, et al.
Am J Med Genet A
. 2021 Oct;
188(2):624-627.
PMID: 34643041
Aymé-Gripp syndrome is a multisystemic disorder caused by a heterozygous variation in the MAF gene (OMIM*177075). Key features are congenital cataracts, sensorineural hearing loss, and a characteristic facial appearance. In...
14.
Richard E, Bakhtiari S, Marsh A, Kaiyrzhanov R, Wagner M, Shetty S, et al.
Am J Hum Genet
. 2021 Oct;
108(10):2006-2016.
PMID: 34626583
Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals...
15.
Horber V, Grasshoff U, Sellier E, Arnaud C, Krageloh-Mann I, Himmelmann K
Front Neurol
. 2021 Feb;
11:628075.
PMID: 33633660
Cerebral magnetic resonance imaging (MRI) is considered an important tool in the assessment of a child with cerebral palsy (CP), as it is abnormal in more than 80% of children...
16.
Traschutz A, Schirinzi T, Laugwitz L, Murray N, Bingman C, Reich S, et al.
Ann Neurol
. 2020 Apr;
88(2):251-263.
PMID: 32337771
Objective: To foster trial-readiness of coenzyme Q8A (COQ8A)-ataxia, we map the clinicogenetic, molecular, and neuroimaging spectrum of COQ8A-ataxia in a large worldwide cohort, and provide first progression data, including treatment...
17.
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...
18.
Park J, Flores B, Scherer K, Kuepper H, Rossi M, Rupprich K, et al.
J Med Genet
. 2019 Aug;
57(4):283-288.
PMID: 31439721
Background: Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. Biallelic variants in have been associated with autosomal-recessive hereditary motor and sensory neuropathy with...
19.
Van der Sluijs P, Jansen S, Vergano S, Adachi-Fukuda M, Alanay Y, Alkindy A, et al.
Genet Med
. 2019 Jan;
21(9):2160-2161.
PMID: 30696996
The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der...
20.
Van der Sluijs P, Jansen S, Vergano S, Adachi-Fukuda M, Alanay Y, Alkindy A, et al.
Genet Med
. 2018 Oct;
21(6):1295-1307.
PMID: 30349098
Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically...