Eva M C Schwaibold
Overview
Explore the profile of Eva M C Schwaibold including associated specialties, affiliations and a list of published articles.
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12
Citations
101
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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.
Bertlich I, Bidier M, Schulz T, Kazakov D, Schwaibold E, Hartschuh W
J Dtsch Dermatol Ges
. 2024 Jan;
22(3):434-437.
PMID: 38200613
No abstract available.
3.
Gippert S, Wagner M, Brunet T, Berruti R, Brugger M, Schwaibold E, et al.
Endocrine
. 2023 Nov;
85(1):444-453.
PMID: 37940764
Background: Endocrine disorders are heterogeneous and include a significant number of rare monogenic diseases. Methods: We performed exome sequencing (ES) in 106 children recruited from a single center within the...
4.
Calhoun J, Aziz M, Happ H, Gunti J, Gleason C, Mohamed N, et al.
Brain
. 2022 Jun;
145(6):1939-1948.
PMID: 35773235
Biallelic pathogenic variants in SZT2 result in a neurodevelopmental disorder with shared features, including early-onset epilepsy, developmental delay, macrocephaly, and corpus callosum abnormalities. SZT2 is as a critical scaffolding protein...
5.
van der Spek J, den Hoed J, Blok L, Dingemans A, Schijven D, Nellaker C, et al.
Genet Med
. 2022 Mar;
24(6):1283-1296.
PMID: 35346573
Purpose: Common diagnostic next-generation sequencing strategies are not optimized to identify inherited variants in genes associated with dominant neurodevelopmental disorders as causal when the transmitting parent is clinically unaffected, leaving...
6.
Park J, Reilaender A, Petry-Schmelzer J, Stobe P, Cordts I, Harmuth F, et al.
Neurol Genet
. 2021 Dec;
8(1):e644.
PMID: 34901436
Background And Objectives: Our objective was to improve rare variant interpretation using statistical measures as well as publicly accessible annotation of expression levels and tissue specificity of different splice isoforms....
7.
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....
8.
Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch S, Stals K, et al.
Hum Mol Genet
. 2021 Sep;
31(3):440-454.
PMID: 34505148
Recently, others and we identified de novo FBXO11 (F-Box only protein 11) variants as causative for a variable neurodevelopmental disorder (NDD). We now assembled clinical and mutational information on 23...
9.
Li D, Wang Q, Gong N, Kurolap A, Feldman H, Boy N, et al.
Sci Adv
. 2021 May;
7(20).
PMID: 33980485
Intellectual disability encompasses a wide spectrum of neurodevelopmental disorders, with many linked genetic loci. However, the underlying molecular mechanism for more than 50% of the patients remains elusive. We describe...
10.
Schwaibold E, Beygo J, Obeid K, Jauch A, Hinderhofer K, Moog U
Am J Med Genet A
. 2020 Nov;
185(2):549-554.
PMID: 33191647
Silver-Russell syndrome (SRS) is characterized by pre- and postnatal growth deficiency. It is most often caused by hypomethylation of the paternal imprinting center 1 of chromosome 11p15.5. In contrast, Sotos...