Sajko M, Vidmar L, Prosenc B, Grum B, Njenjic G, Peterlin B
Eur J Hum Genet. 2025; .
PMID: 39966650
DOI: 10.1038/s41431-025-01813-0.
Suwanlikit Y, Panthan B, Chitayanan P, Klumsathian S, Charoenyingwattana A, Chantratita W
BMC Med Genomics. 2025; 18(1):18.
PMID: 39856693
PMC: 11762063.
DOI: 10.1186/s12920-025-02089-5.
Campbell T, Slone J, Metzger H, Liu W, Sacharow S, Yang A
Genet Med Open. 2024; 2:100841.
PMID: 39669623
PMC: 11613914.
DOI: 10.1016/j.gimo.2023.100841.
Vendrell X, Abuli A, Serra C, Guillen J, Rueda J, Garcia-Planells J
Eur J Hum Genet. 2024; .
PMID: 39623216
DOI: 10.1038/s41431-024-01751-3.
Freeman L, Archibald A, Dive L, Delatycki M, Kirk E, Laing N
Eur J Hum Genet. 2024; 33(2):194-198.
PMID: 39587355
PMC: 11840106.
DOI: 10.1038/s41431-024-01738-0.
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.
Marinakis N, Tilemis F, Veltra D, Svingou M, Sofocleous C, Kekou K
Eur J Hum Genet. 2024; 33(1):65-71.
PMID: 39488673
PMC: 11711610.
DOI: 10.1038/s41431-024-01726-4.
Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.
Xu X, He S, Li G, Wang Z, Lv L, Zhao Z
BMC Med Genomics. 2024; 17(1):214.
PMID: 39160549
PMC: 11331604.
DOI: 10.1186/s12920-024-01989-2.
Carrier testing for autosomal recessive disorders: a look at current practice in Germany.
Netzer C, Velmans C, Erger F, Schreml J
Med Genet. 2024; 33(1):13-19.
PMID: 38836198
PMC: 11006307.
DOI: 10.1515/medgen-2021-2052.
Beyond severity: utility as a criterion for setting the scope of RGCS.
Dive L, Laberge A, Freeman L, Bunnik E
Eur J Hum Genet. 2024; 33(2):226-230.
PMID: 38811715
PMC: 11840050.
DOI: 10.1038/s41431-024-01640-9.
The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases.
Zhang X, Chen Q, Li J, Luo X, Luo J, Li J
Hum Genomics. 2024; 18(1):9.
PMID: 38297315
PMC: 10829374.
DOI: 10.1186/s40246-024-00577-w.
Management considerations for clinically relevant findings on expanded carrier screening in a sperm donor applicant population.
Isley L, Callum P, Luque J, Park J, Baldwin K
F S Rep. 2024; 4(4):384-389.
PMID: 38204949
PMC: 10774867.
DOI: 10.1016/j.xfre.2023.10.005.
Complete genomic profiles of 1496 Taiwanese reveal curated medical insights.
Hsu J, Wu D, Shih S, Liu J, Tsai Y, Lee T
J Adv Res. 2023; 66:197-207.
PMID: 38159844
PMC: 11675050.
DOI: 10.1016/j.jare.2023.12.018.
Using a theory informed approach to design, execute, and evaluate implementation strategies to support offering reproductive genetic carrier screening in Australia.
Best S, Long J, Fehlberg Z, Taylor N, Ellis L, Boggs K
BMC Health Serv Res. 2023; 23(1):1276.
PMID: 37981708
PMC: 10658900.
DOI: 10.1186/s12913-023-10053-1.
Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.
Chen S, Zhou X, Li S, Zhao M, Huang H, Jia J
J Assist Reprod Genet. 2023; 40(9):2157-2173.
PMID: 37450097
PMC: 10440320.
DOI: 10.1007/s10815-023-02876-y.
Consanguineous couples' experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process.
van der Hout S, Woudstra A, Dondorp W, Sallevelt S, de Die-Smulders C, Paulussen A
Eur J Hum Genet. 2023; 31(11):1317-1322.
PMID: 37280360
PMC: 10242213.
DOI: 10.1038/s41431-023-01402-z.
Preconception Expanded Carrier Screening: A Discourse Analysis of Dutch Webpages.
Jamterud S, Snoek A
Healthcare (Basel). 2023; 11(10).
PMID: 37239797
PMC: 10218628.
DOI: 10.3390/healthcare11101511.
The influence of expanded carrier screening in assisted reproductive techniques: changed the 'game'- review.
Drettas P, Tatanis V, Spiliopoulou C, Adonakis G, Liatsikos E
Ann Med Surg (Lond). 2023; 85(5):1811-1815.
PMID: 37228938
PMC: 10205269.
DOI: 10.1097/MS9.0000000000000657.
Investigation of interest in and timing preference for cancer predisposition testing and expanded carrier screening among women of reproductive age.
Zhong L, Bather J, Daly B, Kohlmann W, Goodman M, Rothwell E
PEC Innov. 2023; 2:100128.
PMID: 37214524
PMC: 10194195.
DOI: 10.1016/j.pecinn.2023.100128.
Clinical application value of expanded carrier screening in the population of childbearing age.
Fang Y, Li J, Zhang M, Cheng Y, Wang C, Zhu J
Eur J Med Res. 2023; 28(1):151.
PMID: 37031186
PMC: 10082524.
DOI: 10.1186/s40001-023-01112-8.
Ethics in pre-ART genetics: a missed X-linked Menkes disease case.
Gerdes A, Moller L, Horn N
J Assist Reprod Genet. 2023; 40(4):811-816.
PMID: 36995557
PMC: 10224873.
DOI: 10.1007/s10815-023-02778-z.