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Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
Hall HN, Parry D, Halachev M, Williamson KA, Donnelly K, Campos Parada J, Bhatia S, Joseph J, Holden S, Prescott TE, Bitoun P, Kirk EP, Newbury-Ecob R, Lachlan K, Bernar J, van Heyningen V, FitzPatrick DR, Meynert A. Hall HN, et al. Among authors: kirk ep. J Med Genet. 2024 Feb 21;61(3):250-261. doi: 10.1136/jmg-2023-109181. J Med Genet. 2024. PMID: 38050128 Free article.
Dominant negative OTULIN-related autoinflammatory syndrome.
Davidson S, Shibata Y, Collard S, Zheng H, Kong K, Sun JM, Laohamonthonkul P, Cerra A, Kratina T; CIRCA; AADRY; Li MWY, Russell C, van Beek A, Kirk EP, Walsh R, Alqanatish J, Almojali A, Alsuwairi W, Alrasheed A, Lalaoui N, Gray PE, Komander D, Masters SL. Davidson S, et al. Among authors: kirk ep. J Exp Med. 2024 Jun 3;221(6):e20222171. doi: 10.1084/jem.20222171. Epub 2024 Apr 17. J Exp Med. 2024. PMID: 38630025
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Dias KR, Shrestha R, Schofield D, Evans CA, O'Heir E, Zhu Y, Zhang F, Standen K, Weisburd B, Stenton SL, Sanchis-Juan A, Brand H, Talkowski ME, Ma A, Ghedia S, Wilson M, Sandaradura SA, Smith J, Kamien B, Turner A, Bakshi M, Adès LC, Mowat D, Regan M, McGillivray G, Savarirayan R, White SM, Tan TY, Stark Z, Brown NJ, Pérez-Jurado LA, Krzesinski E, Hunter MF, Akesson L, Fennell AP, Yeung A, Boughtwood T, Ewans LJ, Kerkhof J, Lucas C, Carey L, French H, Rapadas M, Stevanovski I, Deveson IW, Cliffe C, Elakis G, Kirk EP, Dudding-Byth T, Fletcher J, Walsh R, Corbett MA, Kroes T, Gecz J, Meldrum C, Cliffe S, Wall M, Lunke S, North K, Amor DJ, Field M, Sadikovic B, Buckley MF, O'Donnell-Luria A, Roscioli T. Dias KR, et al. Among authors: kirk ep. Genet Med. 2024 May;26(5):101076. doi: 10.1016/j.gim.2024.101076. Epub 2024 Jan 19. Genet Med. 2024. PMID: 38258669
Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line.
Moradi Marjaneh M, Kirk EP, Patrick R, Alankarage D, Humphreys DT, Del Monte-Nieto G, Cornejo-Paramo P, Janbandhu V, Doan TB, Dunwoodie SL, Wong ES, Moran C, Martin ICA, Thomson PC, Harvey RP. Moradi Marjaneh M, et al. Among authors: kirk ep. Elife. 2023 Jun 5;12:e83606. doi: 10.7554/eLife.83606. Elife. 2023. PMID: 37272612 Free PMC article.
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.
Archibald AD, McClaren BJ, Caruana J, Tutty E, King EA, Halliday JL, Best S, Kanga-Parabia A, Bennetts BH, Cliffe CC, Madelli EO, Ho G, Liebelt J, Long JC, Braithwaite J, Kennedy J, Massie J, Emery JD, McGaughran J, Marum JE, Boggs K, Barlow-Stewart K, Burnett L, Dive L, Freeman L, Davis MR, Downes MJ, Wallis M, Ferrie MM, Pachter N, Scuffham PA, Casella R, Allcock RJN, Ong R, Edwards S, Righetti S, Lunke S, Lewis S, Walker SP, Boughtwood TF, Hardy T, Newson AJ, Kirk EP, Laing NG, Delatycki MB, The Mackenzie's Mission Study Team. Archibald AD, et al. Among authors: kirk ep. J Pers Med. 2022 Oct 28;12(11):1781. doi: 10.3390/jpm12111781. J Pers Med. 2022. PMID: 36579509 Free PMC article.
Response to Li and Sun.
Freeman L, Delatycki MB, Scully JL, Kirk EP. Freeman L, et al. Among authors: kirk ep. Genet Med. 2023 Jan;25(1):157. doi: 10.1016/j.gim.2022.10.003. Epub 2022 Nov 14. Genet Med. 2023. PMID: 36378228 Free article. No abstract available.
164 results