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

552 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Anderson EN, Drukewitz S, Kour S, Chimata AV, Rajan DS, Schönnagel S, Stals KL, Donnelly D, O'Sullivan S, Mantovani JF, Tan TY, Stark Z, Zacher P, Chatron N, Monin P, Drunat S, Vial Y, Latypova X, Levy J, Verloes A, Carter JN, Bonner DE, Shankar SP, Bernstein JA, Cohen JS, Comi A, Carere DA, Dyer LM, Mullegama SV, Sanchez-Lara PA, Grand K, Kim HG, Ben-Mahmoud A, Gospe SM Jr, Belles RS, Bellus G, Lichtenbelt KD, Oegema R, Rauch A, Ivanovski I, Mau-Them FT, Garde A, Rabin R, Pappas J, Bley AE, Bredow J, Wagner T, Decker E, Bergmann C, Domenach L, Margot H; Undiagnosed Diseases Network; Lemke JR, Abou Jamra R, Hentschel J, Mefford H, Singh A, Pandey UB, Platzer K. Anderson EN, et al. Among authors: cohen js. Am J Hum Genet. 2025 Dec 29:S0002-9297(25)00475-6. doi: 10.1016/j.ajhg.2025.12.004. Online ahead of print. Am J Hum Genet. 2025. PMID: 41468891 Free article.
Mondo: Integrating Disease Terminology Across Communities.
Vasilevsky NA, Toro S, Matentzoglu N, Flack JE, Mullen KR, Hegde H, Gehrke S, Whetzel PL, Shwetar Y, Harris NL, Ngu MS, Alyea GL, Kane MS, Roncaglia P, Sid E, Thaxton CL, Wood V, Abraham RS, Achatz MI, Ajuyah P, Amberger JS, Babb L, Baker J, Balhoff JP, Berg JS, Bhalla A, Bofill-De Ros X, Braun IR, Broeren EC, Byer BK, Byrne AB, Callahan TJ, Carmody LC, Chan LE, Clause AR, Cohen JS, DeLuca M, Deuitch NT, Flowers M, Fraser J, Fujiwara T, Gitau V, Goldstein JL, Gration D, Groza T, Gyori BM, Hankey W, Hilton JA, Himmelstein DS, Hong SS, Hoyt CT, Huether R, Hurwitz E, Jacobsen JOB, Kikuchi A, Köhler S, Korn DR, Lagorce D, Laraway BJ, Li JY, Malheiro AJ, McLaughlin J, Meldal BHM, Mohan S, Moxon SAT, Munoz-Torres MC, Nelson TH, Nicholas FW, Ochoa D, Olson D, Oprea TI, Oskotsky TT, Osumi-Sutherland D, Paris K, Parkinson HE, Pendlington ZM, Peng XP, Pizzino A, Plon SE, Powell BC, Ratliff JC, Rehm HL, Remennik L, Riggs ER, Roberts S, Robinson PN, Ross JE, Schaper K, Schilder BM, Schmidt JL, Sharp EW, Similuk MN, Smedley D, Sneddon TP, Sparks R, Stefancsik R, Stupp GS, Sundar S, Takatsuki T, Tammen I, Tshering KC, Unni DR, Valasek E, Vanderver A, Wagner AH, Webb RF, Welter D, Yaya-St… See abstract for full author list ➔ Vasilevsky NA, et al. Among authors: cohen js. Genetics. 2025 Oct 6:iyaf215. doi: 10.1093/genetics/iyaf215. Online ahead of print. Genetics. 2025. PMID: 41052288
Finding buried genetic test results in the electronic health record is inefficient and variable across institutions.
Veatch OJ, Mathew J, Rockowitz S, Baldridge D, Wetzel A, Niarchou M, Clarke M, Shankar P, Shankar S, Cohen JS, German K, Berger S, Sellitto A, Oh IY, Raizada R, Sliz P, Soby S, Kaplarevic M, Doherty D, Gropman A, Smith-Hicks C, Neul JL, Lanzotti V, Darbro B, Chang Q, Sahin M, Chopra M. Veatch OJ, et al. Among authors: cohen js. Ther Adv Rare Dis. 2025 Jul 11;6:26330040251356521. doi: 10.1177/26330040251356521. eCollection 2025 Jan-Dec. Ther Adv Rare Dis. 2025. PMID: 40657271 Free PMC article.
Timing of repeat epinephrine to inform paediatric anaphylaxis observation periods: a retrospective cohort study.
Dribin TE, Sampson HA, Zhang Y, Boyd S, Zhang N, Michelson KA, Neuman MI, Brousseau DC, Mistry RD, Freedman SB, Aronson PL, Bergmann KR, Boswell B, Chinta SS, Chua WJ, Cohen AR, Cohen JS, Daggett A, Davis JR, Freeman JF, Khanna K, Knoles CL, Kwan KY, Larsen CD, Lee J, Lubell TR, Metcalf AM, Moake MM, Nesiama JO, Ngo TL, Pulcini CD, Russo CJ, Singh NV, Srivastava G, Strutt J, Thapar V, Wyst CV, Walsh PS, Wolnerman Y, Schnadower D; Pediatric Emergency Medicine Collaborative Research Committee of the American Academy of Pediatrics. Dribin TE, et al. Among authors: cohen js. Lancet Child Adolesc Health. 2025 Jul;9(7):484-496. doi: 10.1016/S2352-4642(25)00139-7. Lancet Child Adolesc Health. 2025. PMID: 40506197
552 results