Holinski-Feder E - Search Results

1

Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.

Erdmann H, Scharf F, Gehling S, Benet-Pagès A, Jakubiczka S, Becker K, Seipelt M, Kleefeld F, Knop KC, Prott EC, Hiebeler M, Montagnese F, Gläser D, Vorgerd M, Hagenacker T, Walter MC, Reilich P, Neuhann T, Zenker M, Holinski-Feder E, Schoser B, Abicht A. Erdmann H, et al. Brain. 2023 Apr 19;146(4):1388-1402. doi: 10.1093/brain/awac336. Brain. 2023. PMID: 36100962

2

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.

Schrank B, Schoser B, Klopstock T, Schneiderat P, Horvath R, Abicht A, Holinski-Feder E, Augustis S. Schrank B, et al. Neuromuscul Disord. 2017 May;27(5):473-476. doi: 10.1016/j.nmd.2017.02.005. Epub 2017 Feb 14. Neuromuscul Disord. 2017. PMID: 28279569

3

Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.

Morak M, Käsbauer S, Kerscher M, Laner A, Nissen AM, Benet-Pagès A, Schackert HK, Keller G, Massdorf T, Holinski-Feder E. Morak M, et al. Fam Cancer. 2017 Oct;16(4):491-500. doi: 10.1007/s10689-017-9975-z. Fam Cancer. 2017. PMID: 28528517

4

Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation.

Morak M, Ibisler A, Keller G, Jessen E, Laner A, Gonzales-Fassrainer D, Locher M, Massdorf T, Nissen AM, Benet-Pagès A, Holinski-Feder E. Morak M, et al. J Med Genet. 2018 Apr;55(4):240-248. doi: 10.1136/jmedgenet-2017-104744. Epub 2018 Feb 22. J Med Genet. 2018. PMID: 29472279

5

Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.

Abicht A, Scharf F, Kleinle S, Schön U, Holinski-Feder E, Horvath R, Benet-Pagès A, Diebold I. Abicht A, et al. Mol Genet Genomic Med. 2018 Nov;6(6):1188-1198. doi: 10.1002/mgg3.500. Epub 2018 Nov 8. Mol Genet Genomic Med. 2018. PMID: 30406974 Free PMC article.

6

Extending the critical regions for mutations in the non-coding gene RNU4ATAC in another patient with Roifman Syndrome.

Hallermayr A, Graf J, Koehler U, Laner A, Schönfeld B, Benet-Pagès A, Holinski-Feder E. Hallermayr A, et al. Clin Case Rep. 2018 Oct 11;6(11):2224-2228. doi: 10.1002/ccr3.1830. eCollection 2018 Nov. Clin Case Rep. 2018. PMID: 30455926 Free PMC article.

7

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.

Diebold I, Schön U, Horvath R, Schwartz O, Holinski-Feder E, Kölbel H, Abicht A. Diebold I, et al. Mol Cell Probes. 2019 Apr;44:14-20. doi: 10.1016/j.mcp.2019.01.003. Epub 2019 Jan 22. Mol Cell Probes. 2019. PMID: 30682426

8

Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome.

Arnold AM, Morak M, Benet-Pagès A, Laner A, Frishman D, Holinski-Feder E. Arnold AM, et al. Eur J Hum Genet. 2020 May;28(5):597-608. doi: 10.1038/s41431-019-0536-9. Epub 2019 Dec 10. Eur J Hum Genet. 2020. PMID: 31822864 Free PMC article.

9

Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics.

Morak M, Steinke-Lange V, Massdorf T, Benet-Pages A, Locher M, Laner A, Kayser K, Aretz S, Holinski-Feder E. Morak M, et al. Fam Cancer. 2020 Apr;19(2):161-167. doi: 10.1007/s10689-020-00159-4. Fam Cancer. 2020. PMID: 32002723

10

Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes.

Diebold I, Schön U, Scharf F, Benet-Pagès A, Laner A, Holinski-Feder E, Abicht A. Diebold I, et al. Hum Mutat. 2020 May;41(5):1025-1032. doi: 10.1002/humu.23996. Epub 2020 Feb 18. Hum Mutat. 2020. PMID: 32048431 Free PMC article.

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