Holinski-Feder E - Search Results

1

Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.

Erdmann H, Schöberl F, Giurgiu M, Leal Silva RM, Scholz V, Scharf F, Wendlandt M, Kleinle S, Deschauer M, Nübling G, Heide W, Babacan SS, Schneider C, Neuhann T, Hahn K, Schoser B, Holinski-Feder E, Wolf DA, Abicht A. Erdmann H, et al. Brain. 2023 May 2;146(5):1831-1843. doi: 10.1093/brain/awac377. Brain. 2023. PMID: 36227727

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

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.

4

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

5

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.

6

HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.

Schön U, Holzer A, Laner A, Kleinle S, Scharf F, Benet-Pagès A, Peschel O, Holinski-Feder E, Diebold I. Schön U, et al. BMC Med Genomics. 2021 Mar 31;14(1):94. doi: 10.1186/s12920-021-00946-7. BMC Med Genomics. 2021. PMID: 33789662 Free PMC article.

7

Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling.

Abicht A, Schön U, Laner A, Holinski-Feder E, Diebold I. Abicht A, et al. Cardiovasc Diagn Ther. 2021 Apr;11(2):637-649. doi: 10.21037/cdt-20-585. Cardiovasc Diagn Ther. 2021. PMID: 33968641 Free PMC article.

8

Metabolic targeting of cancer by a ubiquinone uncompetitive inhibitor of mitochondrial complex I.

Jain S, Hu C, Kluza J, Ke W, Tian G, Giurgiu M, Bleilevens A, Campos AR, Charbono A, Stickeler E, Maurer J, Holinski-Feder E, Vaisburg A, Bureik M, Luo G, Marchetti P, Cheng Y, Wolf DA. Jain S, et al. Cell Chem Biol. 2022 Mar 17;29(3):436-450.e15. doi: 10.1016/j.chembiol.2021.11.002. Epub 2021 Nov 30. Cell Chem Biol. 2022. PMID: 34852219 Free article.

9

Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.

Scharf F, Leal Silva RM, Morak M, Hastie A, Pickl JMA, Sendelbach K, Gebhard C, Locher M, Laner A, Steinke-Lange V, Koehler U, Holinski-Feder E, Wolf DA. Scharf F, et al. J Med Genet. 2022 Oct;59(10):976-983. doi: 10.1136/jmedgenet-2021-108147. Epub 2021 Dec 14. J Med Genet. 2022. PMID: 34911816 Free PMC article.

10

Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations.

Harasim T, Neuhann T, Behnecke A, Stampfer M, Holinski-Feder E, Abicht A. Harasim T, et al. J Clin Med. 2022 Jan 13;11(2):372. doi: 10.3390/jcm11020372. J Clin Med. 2022. PMID: 35054066 Free PMC article.

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

223 results

Search Page

Filters