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Page 1
Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.
Frank MSB, Bennett MK, Ha TT, Moore L, Arts P, Byrne AB, Babic M, Arriola-Martinez L, Toubia J, Brautigan PJ, Feng J, Schwarz Q, Thomas PQ, Piltz SG, White MA, Moghimi A, Strachan K, Kwan E, Springer A, Lewit-Mendes M, Dearman J, Davis T, Kevin L, McCarthy HJ, Liebelt J, Krzesinski E, Regan M, Verma K, McGillivray G, Jayasinghe K, Jackson MR, Barnett CP, Scott HS. Frank MSB, et al. Among authors: byrne ab. Hum Genomics. 2025 Nov 12;19(1):132. doi: 10.1186/s40246-025-00844-4. Hum Genomics. 2025. PMID: 41225654 Free PMC 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: byrne ab. Genetics. 2025 Oct 6:iyaf215. doi: 10.1093/genetics/iyaf215. Online ahead of print. Genetics. 2025. PMID: 41052288
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.
Broeren EC, Gitau VN, Byrne AB, Ajuyah P, Balzotti MB, Berg JS, Bluske K, Bowen BM, Brown MP, Buchanan A, Burns BT, Burns NJ, Chandrasekhar A, Chawla A, Chong JX, Chopra M, Clause AR, DiStefano MT, DiTroia S, Elnagheeb MA, Girod AN, Goel H, Golden-Grant KL, Ha T, Hamosh A, Huang JM, Hughes MY, Jamuar SS, Kam S, Kesari A, Koh AL, Lassiter RNT, Leigh SE, Lemire G, Lim JY, Malhotra A, McCurry HR, Milewski B, Moosa S, Murray SA, Owens EH, Palmer EE, Palus BC, Patel MJ, Rajkumar R, Ratliff JC, Raymond FL, Della Ripa Rodrigues Assis B, Sajan SA, Schlachetzki Z, Schmidt SA, Stark Z, Strom SP, Taylor JP, Thaxton C, Thrush DL, Toro S, Tshering KC, Vasilevsky NA, Wayburn B, Webb RF, O'Donnell-Luria A, Coffey AJ. Broeren EC, et al. Among authors: byrne ab. Genet Med Open. 2025 Apr 9;3:103429. doi: 10.1016/j.gimo.2025.103429. eCollection 2025. Genet Med Open. 2025. PMID: 40496713 Free PMC article.
Missense ABI2 variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities.
Argilli E, Yang C, Le C, Elashoff AM, Parks KC, Bakker C, Skotko BG, Pinnell N, Mahida S, Olson H, Amburgey K, Dowling JJ, Kalsner L, Rajan DS, Munro C, Barnett C, Byrne AB, England EM, Aref-Eshghi E, Mullegama SV, Morrow MM, George E, Sherr EH. Argilli E, et al. Among authors: byrne ab. medRxiv [Preprint]. 2025 May 21:2025.05.19.25327541. doi: 10.1101/2025.05.19.25327541. medRxiv. 2025. PMID: 40475134 Free PMC article. Preprint.
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.
Bergquist T, Stenton SL, Nadeau EAW, Byrne AB, Greenblatt MS, Harrison SM, Tavtigian SV, O'Donnell-Luria A, Biesecker LG, Radivojac P, Brenner SE, Pejaver V; ClinGen Sequence Variant Interpretation Working Group. Bergquist T, et al. Among authors: byrne ab. Genet Med. 2025 Jun;27(6):101402. doi: 10.1016/j.gim.2025.101402. Epub 2025 Mar 10. Genet Med. 2025. PMID: 40084623 Free article.
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets.
Butters A, Thomson K, Harrington F, Henden N, McGuire K, Byrne AB, Bryen S, McGurk KA, Leask M, Ackerman MJ, Atherton J, Bos JM, Caleshu C, Day SM, Dunn K, Hayes I, Juang J, McGaughran J, Nowak N, Parikh VN, Ronan A, Semsarian C, Tardiff JC, Tiemensma M, Merriman TR, Ware JS, Skinner JR, MacArthur DG, Siggs OM, Bagnall RD, Ingles J. Butters A, et al. Among authors: byrne ab. Eur Heart J. 2025 Apr 15;46(15):1446-1449. doi: 10.1093/eurheartj/ehaf001. Eur Heart J. 2025. PMID: 40038847 No abstract available.
Comamonas aquatica inhibits TIR-1/SARM1 induced axon degeneration.
O'Connor LC, Kang WK, Vo P, Spinelli JB, Alkema MJ, Byrne AB. O'Connor LC, et al. Among authors: byrne ab. bioRxiv [Preprint]. 2024 Nov 21:2024.11.20.622298. doi: 10.1101/2024.11.20.622298. bioRxiv. 2024. PMID: 39605655 Free PMC article. Preprint.
A guide to gene-disease relationships in nephrology.
Stark Z, Byrne AB, Sampson MG, Lennon R, Mallett AJ. Stark Z, et al. Among authors: byrne ab. Nat Rev Nephrol. 2025 Feb;21(2):115-126. doi: 10.1038/s41581-024-00900-7. Epub 2024 Oct 23. Nat Rev Nephrol. 2025. PMID: 39443743 Free PMC article. Review.
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.
Bergquist T, Stenton SL, Nadeau EAW, Byrne AB, Greenblatt MS, Harrison SM, Tavtigian SV, O'Donnell-Luria A, Biesecker LG, Radivojac P, Brenner SE, Pejaver V; ClinGen Sequence Variant Interpretation Working Group. Bergquist T, et al. Among authors: byrne ab. bioRxiv [Preprint]. 2024 Sep 21:2024.09.17.611902. doi: 10.1101/2024.09.17.611902. bioRxiv. 2024. Update in: Genet Med. 2025 Jun;27(6):101402. doi: 10.1016/j.gim.2025.101402. PMID: 39345488 Free PMC article. Updated. Preprint.
54 results