Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

109 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Genomes in clinical care.
Riess O, Sturm M, Menden B, Liebmann A, Demidov G, Witt D, Casadei N, Admard J, Schütz L, Ossowski S, Taylor S, Schaffer S, Schroeder C, Dufke A, Haack T. Riess O, et al. Among authors: demidov g. NPJ Genom Med. 2024 Mar 14;9(1):20. doi: 10.1038/s41525-024-00402-2. NPJ Genom Med. 2024. PMID: 38485733 Free PMC article. Review.
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Weisschuh N, Mazzola P, Zuleger T, Schaeferhoff K, Kühlewein L, Kortüm F, Witt D, Liebmann A, Falb R, Pohl L, Reith M, Stühn LG, Bertrand M, Müller A, Casadei N, Kelemen O, Kelbsch C, Kernstock C, Richter P, Sadler F, Demidov G, Schütz L, Admard J, Sturm M, Grasshoff U, Tonagel F, Heinrich T, Nasser F, Wissinger B, Ossowski S, Kohl S, Riess O, Stingl K, Haack TB. Weisschuh N, et al. Among authors: demidov g. J Med Genet. 2024 Jan 19;61(2):186-195. doi: 10.1136/jmg-2023-109470. J Med Genet. 2024. PMID: 37734845 Free PMC article.
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients.
Schroeder C, Faust U, Krauße L, Liebmann A, Abele M, Demidov G, Schütz L, Kelemen O, Pohle A, Gauß S, Sturm M, Roggia C, Streiter M, Buchert R, Armenau-Ebinger S, Nann D, Beschorner R, Handgretinger R, Ebinger M, Lang P, Holzer U, Skokowa J, Ossowski S, Haack TB, Mau-Holzmann UA, Dufke A, Riess O, Brecht IB. Schroeder C, et al. Among authors: demidov g. Eur J Hum Genet. 2023 Oct;31(10):1139-1146. doi: 10.1038/s41431-023-01423-8. Epub 2023 Jul 28. Eur J Hum Genet. 2023. PMID: 37507557 Free PMC article.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: demidov g. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20. Genet Med. 2022. PMID: 35986737 Free article.
109 results