Sources
Publications supporting the dataset values, chart reference lines and model parameters. Each entry identifies the primary study, its authors and DOI.
DOIs checked against PubMed on 11 October 2026; PMIDs are shown in the table. Exceptions identify publications without a PubMed record.
| Publication | Type | Records | Where used | DOI / PMID |
|---|---|---|---|---|
Steffann et al., 2006Steffann J, Frydman N, Gigarel N, et al. Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis. J Med Genet. 2006;43(3):244-247. Use in the Atlas: observations: individual heteroplasmy values (Between different embryos); observations: individual heteroplasmy values (Embryo, foetus and child); summary of a published case or series (Cases) | published | 5 | Between different embryos, Embryo, foetus and child, published cases | doi:10.1136/jmg.2005.032326 PMID 16155197 |
Tajima et al., 2007Tajima H, Sueoka K, Moon SY, et al. The development of novel quantification assay for mitochondrial DNA heteroplasmy aimed at preimplantation genetic diagnosis of Leigh encephalopathy. J Assist Reprod Genet. 2007;24:227-232. Use in the Atlas: data reviewed and not included (reason in Methods) | published | — | considered, not included | doi:10.1007/s10815-007-9114-0 PMID 17342424 |
Thorburn et al., 2009Thorburn DR, Wilton L, Stock-Myer S. Healthy baby girl born following pre-implantation genetic diagnosis for mitochondrial DNA m.8993T>G mutation. Mol Genet Metab. 2009;98(1-2):5-6. Use in the Atlas: observations: individual heteroplasmy values (Between different embryos); observations: individual heteroplasmy values (Embryo, foetus and child); summary of a published case or series (Cases) Conference abstract; no full text or PubMed record. Values taken from the reviews by Castelluccio 2025 and Smeets 2023. DOI exception: No DOI (conference abstract); values were obtained from the reviews by Castelluccio 2025 and Smeets 2023. | conference abstract | 2 | Between different embryos, Embryo, foetus and child, published cases | no DOI |
Monnot et al., 2011Monnot S, Gigarel N, Samuels DC, et al. Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system. Hum Mutat. 2011;32(1):116-125. Use in the Atlas: observations: individual heteroplasmy values (Between different embryos); observations: individual heteroplasmy values (Within individual embryos); summary of a published case or series (Cases) | published | 82 | Between different embryos, Within individual embryos, published cases | doi:10.1002/humu.21417 PMID 21120938 |
Hellebrekers et al., 2012Hellebrekers DMEI, Wolfe R, Hendrickx ATM, et al. PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring. Hum Reprod Update. 2012;18(4):341-349. Use in the Atlas: reference line on the charts (18%) | published | — | reference point on charts | doi:10.1093/humupd/dms008 PMID 22456975 |
Treff et al., 2012Treff NR, Campos J, Tao X, et al. Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder. Fertil Steril. 2012;98(5):1236-1240. Use in the Atlas: observations: individual heteroplasmy values (Between different embryos); observations: individual heteroplasmy values (Within individual embryos); observations: individual heteroplasmy values (Embryo, foetus and child); summary of a published case or series (Cases) | published | 32 | Between different embryos, Within individual embryos, Embryo, foetus and child, published cases | doi:10.1016/j.fertnstert.2012.07.1119 PMID 22921075 |
Sallevelt et al., 2013Sallevelt SCEH, Dreesen JCFM, Drüsedau M, et al. Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success. J Med Genet. 2013;50(2):125-132. Use in the Atlas: observations: individual heteroplasmy values (Embryo, foetus and child); summary of a published case or series (Cases) | published | 1 | Embryo, foetus and child, published cases | doi:10.1136/jmedgenet-2012-101172 PMID 23339111 |
Heindryckx et al., 2014Heindryckx B, Neupane J, Vandewoestyne M, et al. Mutation-free baby born from a mitochondrial encephalopathy, lactic acidosis and stroke-like syndrome carrier after blastocyst trophectoderm preimplantation genetic diagnosis. Mitochondrion. 2014;18:12-17. Use in the Atlas: observations: individual heteroplasmy values (Between different embryos); observations: individual heteroplasmy values (Embryo, foetus and child); summary of a published case or series (Cases) | published | 14 | Between different embryos, Embryo, foetus and child, published cases | doi:10.1016/j.mito.2014.08.005 PMID 25159128 |
Mitalipov et al., 2014Mitalipov S, Amato P, Parry S, Falk MJ. Limitations of preimplantation genetic diagnosis for mitochondrial DNA diseases. Cell Rep. 2014;7(4):935-937. Use in the Atlas: observations: individual heteroplasmy values (Embryo, foetus and child); summary of a published case or series (Cases) | published | 4 | Embryo, foetus and child, published cases | doi:10.1016/j.celrep.2014.05.004 PMID 24856294 |
Steffann et al., 2014Steffann J, Gigarel N, Samuels DC, et al. Data from artificial models of mitochondrial DNA disorders are not always applicable to humans. Cell Rep. 2014;7(4):933-934. Use in the Atlas: summary of a published case or series (Cases) | published | — | published cases | doi:10.1016/j.celrep.2014.05.005 PMID 24856293 |
Sallevelt et al., 2017Sallevelt SCEH, Dreesen JCFM, Drüsedau M, et al. PGD for the m.14487T>C mitochondrial DNA mutation resulted in the birth of a healthy boy. Hum Reprod. 2017;32(3):698-703. Use in the Atlas: observations: individual heteroplasmy values (Between different embryos); summary of a published case or series (Cases) | published | 22 | Between different embryos, published cases | doi:10.1093/humrep/dew356 PMID 28122886 |
Ji et al., 2021Ji D, Li X, Pan J, et al. Preimplantation genetic diagnosis for a carrier with m.3697G>A mitochondrial DNA mutation. J Assist Reprod Genet. 2021;38(12):3251-3260. Use in the Atlas: observations: individual heteroplasmy values (Between different embryos); observations: individual heteroplasmy values (Embryo, foetus and child); summary of a published case or series (Cases); basis for the classification of m.3697G>A | published | 22 | Between different embryos, Embryo, foetus and child, published cases, variant classification | doi:10.1007/s10815-021-02354-3 PMID 34802141 |
Spath et al., 2021Spath K, Babariya D, Konstantinidis M, et al. Clinical application of sequencing-based methods for parallel preimplantation genetic testing for mitochondrial DNA disease and aneuploidy. Fertil Steril. 2021;115(6):1521-1532. Use in the Atlas: observations: individual heteroplasmy values (Between different embryos); observations: individual heteroplasmy values (Embryo, foetus and child); summary of a published case or series (Cases); basis for the classification of m.3243A>G; basis for the classification of m.8993T>G | published | 49 | Between different embryos, Embryo, foetus and child, published cases, variant classification | doi:10.1016/j.fertnstert.2021.01.026 PMID 33745725 |
Ji et al., 2023Ji D, Zhang N, Zou W, et al. Modeling-based prediction tools for preimplantation genetic testing of mitochondrial DNA diseases: estimating symptomatic thresholds, risk, and chance of success. J Assist Reprod Genet. 2023;40:2185-2196. Use in the Atlas: reference line on the charts (15–30%) | published | — | reference point on charts | doi:10.1007/s10815-023-02880-2 PMID 37439868 |
Mayeur et al., 2023Mayeur A, Benaloun E, Benguigui J, et al. Preimplantation genetic testing for mitochondrial DNA mutation: ovarian response to stimulation, outcomes and follow-up. Reprod Biomed Online. 2023;47(1):61-69. Use in the Atlas: summary of a published case or series (Cases) | published | — | published cases | doi:10.1016/j.rbmo.2023.02.010 PMID 37202317 |
Janssen et al., 2024Janssen AEJ, Koeck RM, Essers R, et al. Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing. Nat Commun. 2024;15:7164. Use in the Atlas: observations: individual heteroplasmy values (Within individual embryos) | published | 8 | Within individual embryos | doi:10.1038/s41467-024-51508-1 PMID 39223156 |
Hyslop et al., 2025Hyslop LA, Blakely EL, Aushev M, et al. Mitochondrial donation and preimplantation genetic testing for mtDNA disease. N Engl J Med. 2025;393(5):438-449. Use in the Atlas: observations: individual heteroplasmy values (Between different embryos); observations: individual heteroplasmy values (Embryo, foetus and child); summary of a published case or series (Cases); reference line on the charts (30%); basis for the classification of m.10158T>C; basis for the classification of m.13094T>C; basis for the classification of m.8993T>C | published | 14 | Between different embryos, Embryo, foetus and child, published cases, reference point on charts, variant classification | doi:10.1056/NEJMoa2415539 PMID 40673696 |
Mizuguchi et al., 2025Mizuguchi Y, Sueoka K, Sato S, Tanaka M. Successful birth after preimplantation genetic testing for rare mitochondrial DNA mutation m.10197G>A. Hum Genome Var. 2025;12:7. Use in the Atlas: observations: individual heteroplasmy values (Between different embryos); observations: individual heteroplasmy values (Embryo, foetus and child); summary of a published case or series (Cases); basis for the classification of m.10197G>A | published | 10 | Between different embryos, Embryo, foetus and child, published cases, variant classification | doi:10.1038/s41439-025-00311-5 PMID 40164591 |
Rubens et al., 2025Rubens P, Mayeur A, Chatzovoulou K, et al. Profiling mitochondrial DNA variant segregation during human preimplantation development: a prerequisite to preimplantation genetic testing for mitochondrial DNA-related disorders. Hum Reprod. 2025;40(5):956-961. Use in the Atlas: observations: individual heteroplasmy values (Within individual embryos); summary of a published case or series (Cases) | published | 55 | Within individual embryos, published cases | doi:10.1093/humrep/deaf050 PMID 40174913 |
Volodyaev et al., 2025Volodyaev I, Ivanova A, Korchivaia E, et al. The chromosomal challenge of human embryos: prevalence of aneuploidy and mosaicism. F S Rev. 2025;6(1):100082. Use in the Atlas: scenario model parameter: proportion of euploid blastocysts by age | published | — | PGT-mt × PGT-A model | doi:10.1016/j.xfnr.2024.100082 |
Hu et al., 2026Hu X, Zhang Y, Wan Z, et al. Successful live birth after preimplantation genetic testing for combined nuclear RNASEH2C and mitochondrial MT-TL1 variants. J Assist Reprod Genet. 2026. Use in the Atlas: observations: individual heteroplasmy values (Between different embryos); observations: individual heteroplasmy values (Embryo, foetus and child); summary of a published case or series (Cases); basis for the classification of m.3250T>C | published | 12 | Between different embryos, Embryo, foetus and child, published cases, variant classification | doi:10.1007/s10815-026-04041-7 PMID 42821212 |
Tofilo et al., 2026Tofilo M, Volodyaev I, Tretiakov E, et al. Concordant mtDNA heteroplasmy between trophectoderm and inner cell mass supports blastocyst-stage PGT-mt for m.14487T>C. J Assist Reprod Genet. 2026. 27 August 2026 Use in the Atlas: observations: individual heteroplasmy values (Between different embryos); observations: individual heteroplasmy values (Within individual embryos); summary of a published case or series (Cases); basis for the classification of m.14487T>C | published | 22 | Between different embryos, Within individual embryos, published cases, variant classification | doi:10.1007/s10815-026-04012-y PMID 42649365 |