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Page 1
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR. Ravenscroft G, et al. Among authors: milnes d. J Med Genet. 2021 Sep;58(9):609-618. doi: 10.1136/jmedgenet-2020-106901. Epub 2020 Oct 15. J Med Genet. 2021. PMID: 33060286 Free PMC article.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, B… See abstract for full author list ➔ Bournazos AM, et al. Among authors: milnes d. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
Titin-related familial dilated cardiomyopathy: factors associated with disease onset.
Johnson R, Fletcher RA, Peters S, Ohanian M, Soka M, Smolnikov A, Abihider KE, Ackerman MJ, Ader F, Akhtar MM, Amin AS, Ashley EA, Atherton JJ, Austin R, Baas AF, Bagnall RD, Ross SB, Blouin JL, Brown EE, Bundgaard H, Cannie D, Chmielewski P, Correnti G, Crespo-Leiro MG, Dal Ferro M, Dellefave-Castillo LM, Dominguez F, Dooijes D, Dybro AM, Ed Demri Y, El Hachmi M, Escobar-Lopez L, Foye SJ, Franaszczyk M, Gigli M, Lopez EG, Goudal A, Graw S, Guipponi M, Haan E, Haas J, Hammersley DJ, Hansen FG, Hayward CS, Hey TM, Heymans S, Ho CY, Houweling AC, Ingles J, Ingrey A, Jabbour A, James PA, Jansweijer JA, Jongbloed JDH, Keogh AM, Larrañaga-Moreira JM, Lekanne Deprez RH, Macciocca I, Macdonald PS, Mansencal N, Mansour J, Martinez-Veira C, McDonough B, McGaughran J, Medo K, Merlo M, Michalak E, Monserrat L, Mountain H, Muller SA, Murphy AM, Murray B, Oates EC, Ormondroyd E, Pachter N, Paldino A, Palmyre A, Pereira NL, Picard KC, Poplawski N, Prasad S, Proukhnitzky J, Pruny JF, Reant P, Richard P, Ronan A, Sedaghat-Hamedani F, Semsarian C, Storm G, Stroeks S, Syrris P, Taylor MRG, Thomson K, Thompson T, van Tintelen JP, Vissing CR, Waddell-Smith KE, Wallis M, Zentner D; Australian Genomics… See abstract for full author list ➔ Johnson R, et al. Eur Heart J. 2025 Aug 11:ehaf380. doi: 10.1093/eurheartj/ehaf380. Online ahead of print. Eur Heart J. 2025. PMID: 40796136
Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome.
Lepperdinger U, Angwin C, Milnes D, Sobey G, Ghali N, Johnson D, Brady AF, Kammin T, Bowen JM, Gröbner R, Lundberg P, Scott J, Zschocke J, van Dijk FS, Kapferer-Seebacher I. Lepperdinger U, et al. Among authors: milnes d. J Clin Periodontol. 2022 Dec;49(12):1244-1252. doi: 10.1111/jcpe.13698. Epub 2022 Jul 29. J Clin Periodontol. 2022. PMID: 35833531 Free PMC article.
Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.
Alankarage D, Enriquez A, Steiner RD, Raggio C, Higgins M, Milnes D, Humphreys DT, Duncan EL, Sparrow DB, Giampietro PF, Chapman G, Dunwoodie SL. Alankarage D, et al. Among authors: milnes d. Differentiation. 2022 Nov-Dec;128:1-12. doi: 10.1016/j.diff.2022.09.002. Epub 2022 Sep 24. Differentiation. 2022. PMID: 36194927 Free PMC article.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Walker R, Mahmood K, Joo JE, Clendenning M, Georgeson P, Como J, Joseland S, Preston SG, Antill Y, Austin R, Boussioutas A, Bowman M, Burke J, Campbell A, Daneshvar S, Edwards E, Gleeson M, Goodwin A, Harris MT, Henderson A, Higgins M, Hopper JL, Hutchinson RA, Ip E, Isbister J, Kasem K, Marfan H, Milnes D, Ng A, Nichols C, O'Connell S, Pachter N, Pope BJ, Poplawski N, Ragunathan A, Smyth C, Spigelman A, Storey K, Susman R, Taylor JA, Warwick L, Wilding M, Williams R, Win AK, Walsh MD, Macrae FA, Jenkins MA, Rosty C, Winship IM, Buchanan DD; Family Cancer Clinics of Australia. Walker R, et al. Among authors: milnes d. J Transl Med. 2023 Apr 26;21(1):282. doi: 10.1186/s12967-023-04143-1. J Transl Med. 2023. PMID: 37101184 Free PMC article.
26 results