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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

542 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.
Witt D, Faust U, Strobl-Wildemann G, Sturm M, Buchert R, Zuleger T, Admard J, Casadei N, Ossowski S, Haack TB, Rieß O, Schroeder C. Witt D, et al. Among authors: riess o. Mol Genet Genomic Med. 2023 Jun;11(6):e2151. doi: 10.1002/mgg3.2151. Epub 2023 Feb 9. Mol Genet Genomic Med. 2023. PMID: 36760167 Free PMC article.
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
Butler-Laporte G, Povysil G, Kosmicki JA, Cirulli ET, Drivas T, Furini S, Saad C, Schmidt A, Olszewski P, Korotko U, Quinodoz M, Çelik E, Kundu K, Walter K, Jung J, Stockwell AD, Sloofman LG, Jordan DM, Thompson RC, Del Valle D, Simons N, Cheng E, Sebra R, Schadt EE, Kim-Schulze S, Gnjatic S, Merad M, Buxbaum JD, Beckmann ND, Charney AW, Przychodzen B, Chang T, Pottinger TD, Shang N, Brand F, Fava F, Mari F, Chwialkowska K, Niemira M, Pula S, Baillie JK, Stuckey A, Salas A, Bello X, Pardo-Seco J, Gómez-Carballa A, Rivero-Calle I, Martinón-Torres F, Ganna A, Karczewski KJ, Veerapen K, Bourgey M, Bourque G, Eveleigh RJ, Forgetta V, Morrison D, Langlais D, Lathrop M, Mooser V, Nakanishi T, Frithiof R, Hultström M, Lipcsey M, Marincevic-Zuniga Y, Nordlund J, Schiabor Barrett KM, Lee W, Bolze A, White S, Riffle S, Tanudjaja F, Sandoval E, Neveux I, Dabe S, Casadei N, Motameny S, Alaamery M, Massadeh S, Aljawini N, Almutairi MS, Arabi YM, Alqahtani SA, Al Harthi FS, Almutairi A, Alqubaishi F, Alotaibi S, Binowayn A, Alsolm EA, El Bardisy H, Fawzy M, Cai F, Soranzo N, Butterworth A; COVID-19 Host Genetics Initiative; DeCOI Host Genetics Group; GEN-COVID Multicenter Study (Italy); Mount S… See abstract for full author list ➔ Butler-Laporte G, et al. Among authors: riess o. PLoS Genet. 2022 Nov 3;18(11):e1010367. doi: 10.1371/journal.pgen.1010367. eCollection 2022 Nov. PLoS Genet. 2022. PMID: 36327219 Free PMC article.
Germline findings in patients with advanced malignancies screened with paired blood-tumour testing for personalised treatment approaches.
Roggia C, Armeanu-Ebinger S, Gschwind A, Seibel-Kelemen O, Hertler S, Faust U, Liebmann A, Haack TB, Neumann M, Bonzheim I, Forschner A, Kopp HG, Herster F, Hartkopf A, Bitzer M, Malek NP, Brecht IB, Ruhm K, Möller Y, Löwenheim H, Ossowski S, Rieß OH, Schroeder C. Roggia C, et al. Among authors: riess oh. Eur J Cancer. 2023 Jan;179:48-55. doi: 10.1016/j.ejca.2022.11.003. Epub 2022 Nov 8. Eur J Cancer. 2023. PMID: 36495689
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Clinical outcome of biomarker-guided therapies in adult patients with tumors of the nervous system.
Renovanz M, Kurz SC, Rieger J, Walter B, Becker H, Hille H, Bombach P, Rieger D, Grosse L, Häusser L, Skardelly M, Merk DJ, Paulsen F, Hoffmann E, Gani C, Neumann M, Beschorner R, Rieß O, Roggia C, Schroeder C, Ossowski S, Armeanu-Ebinger S, Gschwind A, Biskup S, Schulze M, Fend F, Singer S, Zender L, Lengerke C, Brucker SY, Engler T, Forschner A, Stenzl A, Kohlbacher O, Nahnsen S, Gabernet G, Fillinger S, Bender B, Ernemann U, Öner Ö, Beha J, Malek HS, Möller Y, Ruhm K, Tatagiba M, Schittenhelm J, Bitzer M, Malek N, Zips D, Tabatabai G. Renovanz M, et al. Among authors: riess o. Neurooncol Adv. 2023 Feb 14;5(1):vdad012. doi: 10.1093/noajnl/vdad012. eCollection 2023 Jan-Dec. Neurooncol Adv. 2023. PMID: 36915613 Free PMC article.
Detection of circulating cell-free HPV DNA of 13 HPV types for patients with cervical cancer as potential biomarker to monitor therapy response and to detect relapse.
Mittelstadt S, Kelemen O, Admard J, Gschwind A, Koch A, Wörz S, Oberlechner E, Engler T, Bonzheim I, Staebler A, Weidner N, Stubenrauch F, Iftner T, Riess O, Schroeder C, Kommoss S, Ossowski S. Mittelstadt S, et al. Among authors: riess o. Br J Cancer. 2023 Jun;128(11):2097-2103. doi: 10.1038/s41416-023-02233-x. Epub 2023 Mar 27. Br J Cancer. 2023. PMID: 36973448 Free PMC article.
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
Raposo M, Hübener-Schmid J, Ferreira AF, Vieira Melo AR, Vasconcelos J, Pires P, Kay T, Garcia-Moreno H, Giunti P, Santana MM, Pereira de Almeida L, Infante J, van de Warrenburg BP, de Vries JJ, Faber J, Klockgether T, Casadei N, Admard J, Schöls L; European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group; Riess O, Lima M. Raposo M, et al. Among authors: riess o. Brain. 2023 Oct 3;146(10):4132-4143. doi: 10.1093/brain/awad128. Brain. 2023. PMID: 37071051
Overexpression of human alpha-Synuclein leads to dysregulated microbiome/metabolites with ageing in a rat model of Parkinson disease.
Singh Y, Trautwein C, Romani J, Salker MS, Neckel PH, Fraccaroli I, Abeditashi M, Woerner N, Admard J, Dhariwal A, Dueholm MKD, Schäfer KH, Lang F, Otzen DE, Lashuel HA, Riess O, Casadei N. Singh Y, et al. Among authors: riess o. Mol Neurodegener. 2023 Jul 4;18(1):44. doi: 10.1186/s13024-023-00628-1. Mol Neurodegener. 2023. PMID: 37403161 Free PMC article.
Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy.
Traschütz A, Heindl F, Bilal M, Hartmann AM, Dufke C, Riess O, Zwergal A, Rujescu D, Haack T, Synofzik M, Strupp M. Traschütz A, et al. Among authors: riess o. Neurology. 2023 Sep 5;101(10):e1001-e1013. doi: 10.1212/WNL.0000000000207553. Epub 2023 Jul 17. Neurology. 2023. PMID: 37460231 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: riess o. 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.
542 results