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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2013 2
2014 1
2015 1
2016 1
2017 2
2018 1
2020 1
2021 1
2023 3
2024 4
2025 4

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

19 results

Results by year

Filters applied: . Clear all
Page 1
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19. Nat Med. 2023. PMID: 36658419 Free PMC 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
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.
Rius R, Compton AG, Baker NL, Balasubramaniam S, Best S, Bhattacharya K, Boggs K, Boughtwood T, Braithwaite J, Bratkovic D, Bray A, Brion MJ, Burke J, Casauria S, Chong B, Coman D, Cowie S, Cowley M, de Silva MG, Delatycki MB, Edwards S, Ellaway C, Fahey MC, Finlay K, Fletcher J, Frajman LE, Frazier AE, Gayevskiy V, Ghaoui R, Goel H, Goranitis I, Haas M, Hock DH, Howting D, Jackson MR, Kava MP, Kemp M, King-Smith S, Lake NJ, Lamont PJ, Lee J, Long JC, MacShane M, Madelli EO, Martin EM, Marum JE, Mattiske T, McGill J, Metke A, Murray S, Panetta J, Phillips LK, Quinn MCJ, Ryan MT, Schenscher S, Simons C, Smith N, Stroud DA, Tchan MC, Tom M, Wallis M, Ware TL, Welch AE, Wools C, Wu Y, Christodoulou J, Thorburn DR. Rius R, et al. Among authors: mattiske t. Genet Med. 2025 Jan;27(1):101271. doi: 10.1016/j.gim.2024.101271. Epub 2024 Sep 19. Genet Med. 2025. PMID: 39305161
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Stark Z, Boughtwood T, Haas M, Braithwaite J, Gaff CL, Goranitis I, Spurdle AB, Hansen DP, Hofmann O, Laing N, Metcalfe S, Newson AJ, Scott HS, Thorne N, Ward RL, Dinger ME, Best S, Long JC, Grimmond SM, Pearson J, Waddell N, Barnett CP, Cook M, Field M, Fielding D, Fox SB, Gecz J, Jaffe A, Leventer RJ, Lockhart PJ, Lunke S, Mallett AJ, McGaughran J, Mileshkin L, Nones K, Roscioli T, Scheffer IE, Semsarian C, Simons C, Thomas DM, Thorburn DR, Tothill R, White D, Dunwoodie S, Simpson PT, Phillips P, Brion MJ, Finlay K, Quinn MC, Mattiske T, Tudini E, Boggs K, Murray S, Wells K, Cannings J, Sinclair AH, Christodoulou J, North KN. Stark Z, et al. Among authors: mattiske t. Am J Hum Genet. 2023 Mar 2;110(3):419-426. doi: 10.1016/j.ajhg.2023.01.018. Am J Hum Genet. 2023. PMID: 36868206 Free PMC article. Review.
Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol.
Mallawaarachchi A, McCarthy H, Forbes TA, Jayasinghe K, Patel C, Alexander SI, Boughtwood T, Braithwaite J, Chakera A, Crafter S, Deveson IW, Faull R, Harris T, Johnstone L, Jose M, Leaver A, Little MH, MacArthur D, Mattiske T, Mincham C, Nicholls K, Quinlan C, Quinn MCJ, Rangan G, Ryan J, Simons C, Smyth I, Sundaram M, Trnka P, Wedd L, Biros E, Stark Z, Mallett A. Mallawaarachchi A, et al. Among authors: mattiske t. BMC Nephrol. 2025 Feb 3;26(1):51. doi: 10.1186/s12882-024-03926-y. BMC Nephrol. 2025. PMID: 39901087 Free PMC article.
Consultation informs strategies to improve functional evidence use in variant classification.
Villani RM, Terrill B, Tudini E, McKenzie ME, Cliffe CC, Hahn CN, Lundie B, Mattiske T, Matotek E, McEwen AE, Nickerson SL, Breen J, Fowler DM, Christodoulou J, Starita L, Rubin AF, Spurdle AB. Villani RM, et al. Among authors: mattiske t. medRxiv [Preprint]. 2024 Dec 6:2024.12.04.24318523. doi: 10.1101/2024.12.04.24318523. medRxiv. 2024. Update in: Am J Hum Genet. 2025 Jun 5;112(6):1489-1495. doi: 10.1016/j.ajhg.2025.05.003. PMID: 39677445 Free PMC article. Updated. Preprint.
19 results