Wagner M - Search Results

1

A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome.

Leszinski GS, Warncke K, Hoefele J, Wagner M. Leszinski GS, et al. Among authors: wagner m. Gene. 2018 Jul 15;663:110-114. doi: 10.1016/j.gene.2018.04.027. Epub 2018 Apr 12. Gene. 2018. PMID: 29655892 Review.

2

Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.

Riedhammer KM, Siegel C, Alhaddad B, Montoya C, Kovacs-Nagy R, Wagner M, Meitinger T, Hoefele J. Riedhammer KM, et al. Among authors: wagner m. Front Pediatr. 2017 Nov 24;5:251. doi: 10.3389/fped.2017.00251. eCollection 2017. Front Pediatr. 2017. PMID: 29226118 Free PMC article.

3

Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing.

Günthner R, Wagner M, Thurm T, Ponsel S, Höfele J, Lange-Sperandio B. Günthner R, et al. Among authors: wagner m. Gene. 2018 Apr 5;649:23-26. doi: 10.1016/j.gene.2018.01.060. Epub 2018 Jan 31. Gene. 2018. PMID: 29391272

4

A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental Delay.

Westphal DS, Riedhammer KM, Kovacs-Nagy R, Meitinger T, Hoefele J, Wagner M. Westphal DS, et al. Among authors: wagner m. Neuropediatrics. 2018 Dec;49(6):401-404. doi: 10.1055/s-0038-1669926. Epub 2018 Sep 10. Neuropediatrics. 2018. PMID: 30199896

5

First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome.

Riedhammer KM, Leszinski GS, Andres S, Strobl-Wildemann G, Wagner M. Riedhammer KM, et al. Among authors: wagner m. Mov Disord. 2018 Oct;33(10):1665-1666. doi: 10.1002/mds.27481. Epub 2018 Oct 4. Mov Disord. 2018. PMID: 30288795 No abstract available.

6

Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing.

Westphal DS, Leszinski GS, Rieger-Fackeldey E, Graf E, Weirich G, Meitinger T, Ostermayer E, Oberhoffer R, Wagner M. Westphal DS, et al. Among authors: wagner m. Clin Genet. 2019 May;95(5):582-589. doi: 10.1111/cge.13536. Epub 2019 Mar 28. Clin Genet. 2019. PMID: 30868567

7

Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.

Krenn M, Tomschik M, Rath J, Cetin H, Grisold A, Zulehner G, Milenkovic I, Stogmann E, Zimprich A, Strom TM, Meitinger T, Wagner M, Zimprich F. Krenn M, et al. Among authors: wagner m. Eur J Neurol. 2020 Jan;27(1):51-61. doi: 10.1111/ene.14033. Epub 2019 Aug 13. Eur J Neurol. 2020. PMID: 31407473 Free PMC article.

8

A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions.

Brunet T, Westphal DS, Weber S, Juenger H, Vlaho S, Hoefele J, Meitinger T, Rieger-Fackeldey E, Wagner M. Brunet T, et al. Among authors: wagner m. Gene. 2020 Jun 5;742:144542. doi: 10.1016/j.gene.2020.144542. Epub 2020 Mar 14. Gene. 2020. PMID: 32184166

9

Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.

Boonsimma P, Michael Gasser M, Netbaramee W, Wechapinan T, Srichomthong C, Ittiwut C, Wagner M, Krenn M, Zimprich F, Abicht A, Biskup S, Roser T, Borggraefe I, Suphapeetiporn K, Shotelersuk V. Boonsimma P, et al. Among authors: wagner m. Gene. 2020 Jul 30;749:144709. doi: 10.1016/j.gene.2020.144709. Epub 2020 Apr 25. Gene. 2020. PMID: 32339621

10

Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.

Riedhammer KM, Braunisch MC, Günthner R, Wagner M, Hemmer C, Strom TM, Schmaderer C, Renders L, Tasic V, Gucev Z, Nushi-Stavileci V, Putnik J, Stajić N, Weidenbusch M, Uetz B, Montoya C, Strotmann P, Ponsel S, Lange-Sperandio B, Hoefele J. Riedhammer KM, et al. Among authors: wagner m. Am J Kidney Dis. 2020 Oct;76(4):460-470. doi: 10.1053/j.ajkd.2019.12.008. Epub 2020 Apr 28. Am J Kidney Dis. 2020. PMID: 32359821

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

6,574 results

Search Page

Filters