Search Results - "Ganesh VS"

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

Authors: Matalon DR Duker AL Arriaga TM et al.

Corporate Authors: Matalon DR Duker AL Arriaga TM et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jun 19, pp. 102633. Date of Electronic Publication: 2026 Jun 19.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

Authors: Heavner BD Wheeler MM Bengtsson JD et al.

Corporate Authors: Heavner BD Wheeler MM Bengtsson JD et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 May 19. Date of Electronic Publication: 2026 May 19.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Case Study 11: A 67-Year-Old Man With Behavioral Disturbances and Frequent Falls.

Authors: Kamal S Kennel N Li AM et al.

Source: The Journal of neuropsychiatry and clinical neurosciences [J Neuropsychiatry Clin Neurosci] 2026 Apr 24, pp. appineuropsych20250213. Date of Electronic Publication: 2026 Apr 24.

Publication Type: Journal Article

Journal Info: Publisher: American Psychiatric Press Country of Publication: United States NLM ID: 8911344 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-7222 (Electronic) Linking ISSN: 08950172 NLM ISO Abbreviation: J Neuropsychiatry Clin Neurosci Subsets: MEDLINE

Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.

Authors: Mendez R Arriaga TM Ma J et al.

Corporate Authors: Mendez R Arriaga TM Ma J et al.

Source: HGG advances [HGG Adv] 2026 Apr 09; Vol. 7 (2), pp. 100588. Date of Electronic Publication: 2026 Mar 09.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Narrative review on the development of multi-target pharmacological agents for the management of rheumatoid arthritis.

Authors: Dhanush Y Ganesh VS

Source: Inflammopharmacology [Inflammopharmacology] 2026 Feb; Vol. 34 (2), pp. 811-831. Date of Electronic Publication: 2026 Jan 10.

Publication Type: Journal Article; Review

Journal Info: Publisher: Birkhäuser Country of Publication: Switzerland NLM ID: 9112626 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1568-5608 (Electronic) Linking ISSN: 09254692 NLM ISO Abbreviation: Inflammopharmacology Subsets: MEDLINE

Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.

Authors: Turner J Bruels CC Daugherty AL et al.

Source: Muscle & nerve [Muscle Nerve] 2024 Oct; Vol. 70 (4), pp. 843-850. Date of Electronic Publication: 2024 Jul 28.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

Authors: Arriaga TM Mendez R Ungar RA et al.

Corporate Authors: Arriaga TM Mendez R Ungar RA et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Oct 02; Vol. 112 (10), pp. 2458-2475. Date of Electronic Publication: 2025 Sep 19.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Non-oncologic to oncologic drug: A systematic review of drug repurposing in cancer.

Authors: Dhanush Y Ganesh VS

Source: Cancer chemotherapy and pharmacology [Cancer Chemother Pharmacol] 2025 Sep 27; Vol. 95 (1), pp. 91. Date of Electronic Publication: 2025 Sep 27.

Publication Type: Journal Article; Systematic Review

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7806519 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0843 (Electronic) Linking ISSN: 03445704 NLM ISO Abbreviation: Cancer Chemother Pharmacol Subsets: MEDLINE

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Authors: Stenton SL O'Leary MC Lemire G et al.

Source: Human genomics [Hum Genomics] 2024 Apr 29; Vol. 18 (1), pp. 44. Date of Electronic Publication: 2024 Apr 29.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause.

Authors: Patel S Zain-Ul-Abideen M Guyol G et al.

Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2025 May 01; Vol. 43, pp. 101223. Date of Electronic Publication: 2025 May 01 (Print Publication: 2025).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

Authors: Akula SK Chen AY Neil JE et al.

Corporate Authors: Akula SK Chen AY Neil JE et al.

Source: JAMA neurology [JAMA Neurol] 2023 Sep 01; Vol. 80 (9), pp. 980-988.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE

Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL.

Authors: Carbonell E Stenton SL Ganesh VS et al.

Source: HGG advances [HGG Adv] 2025 Apr 10; Vol. 6 (2), pp. 100419. Date of Electronic Publication: 2025 Feb 21.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets.

Authors: Weisburd B Sharma R Pata V et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Apr; Vol. 27 (4), pp. 101336. Date of Electronic Publication: 2024 Dec 09.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.

Authors: Nascimento A Bruels CC Donkervoort S et al.

Source: Acta neuropathologica [Acta Neuropathol] 2023 Apr; Vol. 145 (4), pp. 479-496. Date of Electronic Publication: 2023 Feb 17.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

Authors: Arriaga MT Mendez R Ungar RA et al.

Corporate Authors: Arriaga MT Mendez R Ungar RA et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Jan 03. Date of Electronic Publication: 2025 Jan 03.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.

Authors: Ganesh VS Riquin K Chatron N et al.

Source: The New England journal of medicine [N Engl J Med] 2024 Oct 24; Vol. 391 (16), pp. 1511-1518.

Publication Type: Journal Article; Case Reports; Research Support, N.I.H., Extramural

Journal Info: Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

Authors: Ranta-Aho J Felice KJ Jonson PH et al.

Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Sep; Vol. 11 (9), pp. 2392-2405. Date of Electronic Publication: 2024 Aug 02.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

Authors: Mohan S McNulty S Thaxton C et al.

Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Sep; Vol. 11 (9), pp. 2268-2276. Date of Electronic Publication: 2024 Aug 30.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Authors: Chen Y Dawes R Kim HC et al.

Source: Nature [Nature] 2024 Aug; Vol. 632 (8026), pp. 832-840. Date of Electronic Publication: 2024 Jul 11.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.

Authors: Donkervoort S Krause N Dergai M et al.

Source: EMBO molecular medicine [EMBO Mol Med] 2021 Dec 07; Vol. 13 (12), pp. e13787. Date of Electronic Publication: 2021 Nov 15.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE