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

229 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: wagener r. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Hyperdiploid acute lymphoblastic leukemia in children with LZTR1 germline variants.
Zipper L, Wagener R, Fischer U, Hoffmann A, Yasin L, Brandes D, Soura S, Anwar A, Walter C, Varghese J, Hauer J, Auer F, Bhatia S, Dugas M, Junk SV, Stanulla M, Haas OA, Borkhardt A, Reiff T, Brozou T. Zipper L, et al. Among authors: wagener r. Hemasphere. 2024 Jan 26;8(1):e26. doi: 10.1002/hem3.26. eCollection 2024 Jan. Hemasphere. 2024. PMID: 38434521 Free PMC article. No abstract available.
A clinically applicable connectivity signature for glioblastoma includes the tumor network driver CHI3L1.
Hai L, Hoffmann DC, Wagener RJ, Azorin DD, Hausmann D, Xie R, Huppertz MC, Hiblot J, Sievers P, Heuer S, Ito J, Cebulla G, Kourtesakis A, Kaulen LD, Ratliff M, Mandelbaum H, Jung E, Jabali A, Horschitz S, Ernst KJ, Reibold D, Warnken U, Venkataramani V, Will R, Suvà ML, Herold-Mende C, Sahm F, Winkler F, Schlesner M, Wick W, Kessler T. Hai L, et al. Among authors: wagener rj. Nat Commun. 2024 Feb 6;15(1):968. doi: 10.1038/s41467-024-45067-8. Nat Commun. 2024. PMID: 38320988 Free PMC article.
Co-targeting HSP90 alpha and CDK7 overcomes resistance against HSP90 inhibitors in BCR-ABL1+ leukemia cells.
Vogt M, Dienstbier N, Schliehe-Diecks J, Scharov K, Tu JW, Gebing P, Hogenkamp J, Bilen BS, Furlan S, Picard D, Remke M, Yasin L, Bickel D, Kalia M, Iacoangeli A, Lenz T, Stühler K, Pandyra AA, Hauer J, Fischer U, Wagener R, Borkhardt A, Bhatia S. Vogt M, et al. Among authors: wagener r. Cell Death Dis. 2023 Dec 6;14(12):799. doi: 10.1038/s41419-023-06337-3. Cell Death Dis. 2023. PMID: 38057328 Free PMC article.
Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia.
Brandes D, Yasin L, Nebral K, Ebler J, Schinnerl D, Picard D, Bergmann AK, Alam J, Köhrer S, Haas OA, Attarbaschi A, Marschall T, Stanulla M, Borkhardt A, Brozou T, Fischer U, Wagener R. Brandes D, et al. Among authors: wagener r. Hemasphere. 2023 Jul 17;7(8):e925. doi: 10.1097/HS9.0000000000000925. eCollection 2023 Aug. Hemasphere. 2023. PMID: 37469802 Free PMC article.
A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children.
Friedrich UA, Bienias M, Zinke C, Prazenicova M, Lohse J, Jahn A, Menzel M, Langanke J, Walter C, Wagener R, Brozou T, Varghese J, Dugas M, Erlacher M, Schröck E, Suttorp M, Borkhardt A, Hauer J, Auer F. Friedrich UA, et al. Among authors: wagener r. Genet Med. 2023 Aug;25(8):100875. doi: 10.1016/j.gim.2023.100875. Epub 2023 May 3. Genet Med. 2023. PMID: 37149759 Free article.
229 results