{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T06:51:22Z","timestamp":1789800682181,"version":"4.0.1"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T00:00:00Z","timestamp":1747785600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T00:00:00Z","timestamp":1747785600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"the Guangdong Province Aid-Xinjiang Rural Science and Technology (Special Envoy) Program","award":["KTPYJ2022023"],"award-info":[{"award-number":["KTPYJ2022023"]}]},{"name":"the Yixian Clinical Research and Cultivation Project","award":["SYS-Q-202103"],"award-info":[{"award-number":["SYS-Q-202103"]}]},{"name":"the National Key Research and Development Program of China","award":["2019YFA0801403"],"award-info":[{"award-number":["2019YFA0801403"]}]},{"name":"the National Key Research and Development Program of China","award":["2023YFC2705604"],"award-info":[{"award-number":["2023YFC2705604"]}]},{"name":"Beijing Health Promotion Association-2022 Young and Middle-aged Doctors Research","award":["BJHPA-2022-SHZHYXZHQNYJ-LCH-011"],"award-info":[{"award-number":["BJHPA-2022-SHZHYXZHQNYJ-LCH-011"]}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2023A1515010515"],"award-info":[{"award-number":["2023A1515010515"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Assist Reprod Genet"],"published-print":{"date-parts":[[2025,6]]},"DOI":"10.1007\/s10815-025-03501-w","type":"journal-article","created":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T20:42:28Z","timestamp":1747860148000},"page":"1961-1973","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest"],"prefix":"10.1007","volume":"42","author":[{"given":"Haijing","family":"Zhao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nengyong","family":"Ouyang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Songbang","family":"Ou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiyan","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zaowen","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenyi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5367-8753","authenticated-orcid":false,"given":"Ping","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,5,21]]},"reference":[{"issue":"5","key":"3501_CR1","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1242\/dev.060426","volume":"139","author":"KK Niakan","year":"2012","unstructured":"Niakan KK, Han J, Pedersen RA, Simon C, Pera RA. Human pre-implantation embryo development. Development. 2012;139(5):829\u201341. https:\/\/doi.org\/10.1242\/dev.060426.","journal-title":"Development"},{"issue":"11","key":"3501_CR2","doi-asserted-by":"publisher","first-page":"1920","DOI":"10.3390\/genes13111920","volume":"13","author":"OA Solovova","year":"2022","unstructured":"Solovova OA, Chernykh VB. Genetics of oocyte maturation defects and early embryo development arrest. Genes (Basel). 2022;13(11):1920. https:\/\/doi.org\/10.3390\/genes13111920.","journal-title":"Genes (Basel)"},{"issue":"1","key":"3501_CR3","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1093\/humupd\/dmad026","volume":"30","author":"Y Wei","year":"2024","unstructured":"Wei Y, Wang J, Qu R, Zhang W, Tan Y, Sha Y, et al. Genetic mechanisms of fertilization failure and early embryonic arrest: a comprehensive review. Hum Reprod Update. 2024;30(1):48\u201380. https:\/\/doi.org\/10.1093\/humupd\/dmad026.","journal-title":"Hum Reprod Update"},{"issue":"12","key":"3501_CR4","doi-asserted-by":"publisher","first-page":"2289","DOI":"10.1093\/humrep\/dead199","volume":"38","author":"W Verpoest","year":"2023","unstructured":"Verpoest W, Okutman \u00d6, Van Der Kelen A, Sermon K, Viville S. Genetics of infertility: a paradigm shift for medically assisted reproduction. Hum Reprod. 2023;38(12):2289\u201395. https:\/\/doi.org\/10.1093\/humrep\/dead199.","journal-title":"Hum Reprod"},{"issue":"17","key":"3501_CR5","doi-asserted-by":"publisher","first-page":"3699","DOI":"10.1242\/dev.064741","volume":"138","author":"R Vassena","year":"2011","unstructured":"Vassena R, Bou\u00e9 S, Gonz\u00e1lez-Roca E, Aran B, Auer H, Veiga A, et al. Waves of early transcriptional activation and pluripotency program initiation during human preimplantation development. Development. 2011;138(17):3699\u2013709. https:\/\/doi.org\/10.1242\/dev.064741.","journal-title":"Development"},{"key":"3501_CR6","doi-asserted-by":"publisher","unstructured":"Wang L, Sang Q. MOS is a novel genetic marker for human early embryonic arrest and fragmentation. EMBO Mol Med. 2021;13(12):e15323. https:\/\/doi.org\/10.15252\/emmm.202115323.","DOI":"10.15252\/emmm.202115323"},{"issue":"9","key":"3501_CR7","doi-asserted-by":"publisher","first-page":"2261","DOI":"10.1007\/s10815-021-02219-9","volume":"38","author":"W Zheng","year":"2021","unstructured":"Zheng W, Hu H, Zhang S, Xu X, Gao Y, Gong F, et al. The comprehensive variant and phenotypic spectrum of TUBB8 in female infertility. J Assist Reprod Genet. 2021;38(9):2261\u201372. https:\/\/doi.org\/10.1007\/s10815-021-02219-9.","journal-title":"J Assist Reprod Genet"},{"key":"3501_CR8","doi-asserted-by":"publisher","unstructured":"Christou-Kent M, Kherraf ZE, Amiri-Yekta A, Le Bl\u00e9vec E, Karaouz\u00e8ne T, Conne B, et al. PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice. EMBO Mol Med. 2018;10(5):e8515. https:\/\/doi.org\/10.15252\/emmm.201708515.","DOI":"10.15252\/emmm.201708515"},{"key":"3501_CR9","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1186\/s13059-015-0792-0","volume":"16","author":"AM Alazami","year":"2015","unstructured":"Alazami AM, Awad SM, Coskun S, Al-Hassan S, Hijazi H, Abdulwahab FM, et al. TLE6 mutation causes the earliest known human embryonic lethality. Genome Biol. 2015;16:240. https:\/\/doi.org\/10.1186\/s13059-015-0792-0.","journal-title":"Genome Biol"},{"issue":"4","key":"3501_CR10","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1016\/j.ajhg.2018.02.015","volume":"102","author":"Q Sang","year":"2018","unstructured":"Sang Q, Li B, Kuang Y, Wang X, Zhang Z, Chen B, et al. Homozygous mutations in WEE2 cause fertilization failure and female infertility. Am J Hum Genet. 2018;102(4):649\u201357. https:\/\/doi.org\/10.1016\/j.ajhg.2018.02.015.","journal-title":"Am J Hum Genet"},{"issue":"2","key":"3501_CR11","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1007\/s10815-019-01653-0","volume":"37","author":"J Lin","year":"2020","unstructured":"Lin J, Xu H, Chen B, Wang W, Wang L, Sun X, et al. Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations. J Assist Reprod Genet. 2020;37(2):437\u201342. https:\/\/doi.org\/10.1007\/s10815-019-01653-0.","journal-title":"J Assist Reprod Genet"},{"issue":"18","key":"3501_CR12","doi-asserted-by":"publisher","first-page":"1670","DOI":"10.1016\/j.cub.2005.07.056","volume":"15","author":"SJ Han","year":"2005","unstructured":"Han SJ, Chen R, Paronetto MP, Conti M. Wee1B is an oocyte-specific kinase involved in the control of meiotic arrest in the mouse. Curr Biol. 2005;15(18):1670\u20136. https:\/\/doi.org\/10.1016\/j.cub.2005.07.056.","journal-title":"Curr Biol"},{"issue":"2","key":"3501_CR13","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1083\/jcb.200907161","volume":"188","author":"JS Oh","year":"2010","unstructured":"Oh JS, Han SJ, Conti M. Wee1B, Myt1, and Cdc25 function in distinct compartments of the mouse oocyte to control meiotic resumption. J Cell Biol. 2010;188(2):199\u2013207. https:\/\/doi.org\/10.1083\/jcb.200907161.","journal-title":"J Cell Biol"},{"issue":"9","key":"3501_CR14","doi-asserted-by":"publisher","first-page":"2427","DOI":"10.1093\/oxfordjournals.humrep.a136312","volume":"10","author":"C Giorgetti","year":"1995","unstructured":"Giorgetti C, Terriou P, Auquier P, Hans E, Spach JL, Salzmann J, et al. Embryo score to predict implantation after in-vitro fertilization: based on 957 single embryo transfers. Hum Reprod. 1995;10(9):2427\u201331. https:\/\/doi.org\/10.1093\/oxfordjournals.humrep.a136312.","journal-title":"Hum Reprod"},{"issue":"8016","key":"3501_CR15","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1038\/s41586-024-07487-w","volume":"630","author":"J Abramson","year":"2024","unstructured":"Abramson J, Adler J, Dunger J, Evans R, Green T, Pritzel A, et al. Accurate structure prediction of biomolecular interactions with AlphaFold 3. Nature. 2024;630(8016):493\u2013500. https:\/\/doi.org\/10.1038\/s41586-024-07487-w.","journal-title":"Nature"},{"issue":"12","key":"3501_CR16","doi-asserted-by":"publisher","first-page":"2163","DOI":"10.1016\/j.ajhg.2022.10.013","volume":"109","author":"V Pejaver","year":"2022","unstructured":"Pejaver V, Byrne AB, Feng BJ, Pagel KA, Mooney SD, Karchin R, et al. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3\/BP4 criteria. Am J Hum Genet. 2022;109(12):2163\u201377. https:\/\/doi.org\/10.1016\/j.ajhg.2022.10.013.","journal-title":"Am J Hum Genet"},{"issue":"23","key":"3501_CR17","doi-asserted-by":"publisher","first-page":"4791","DOI":"10.1093\/nar\/24.23.4791","volume":"24","author":"X Wang","year":"1996","unstructured":"Wang X, Watt PM, Louis EJ, Borts RH, Hickson ID. Pat1: a topoisomerase II-associated protein required for faithful chromosome transmission in Saccharomyces cerevisiae. Nucleic Acids Res. 1996;24(23):4791\u20137. https:\/\/doi.org\/10.1093\/nar\/24.23.4791.","journal-title":"Nucleic Acids Res"},{"issue":"7","key":"3501_CR18","doi-asserted-by":"publisher","first-page":"1349","DOI":"10.1007\/s10815-018-1188-3","volume":"35","author":"P Yuan","year":"2018","unstructured":"Yuan P, Zheng L, Liang H, Li Y, Zhao H, Li R, et al. A novel mutation in the TUBB8 gene is associated with complete cleavage failure in fertilized eggs. J Assist Reprod Genet. 2018;35(7):1349\u201356. https:\/\/doi.org\/10.1007\/s10815-018-1188-3.","journal-title":"J Assist Reprod Genet"},{"issue":"3","key":"3501_CR19","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1056\/NEJMoa1510791","volume":"374","author":"R Feng","year":"2016","unstructured":"Feng R, Sang Q, Kuang Y, Sun X, Yan Z, Zhang S, et al. Mutations in TUBB8 and human oocyte meiotic arrest. N Engl J Med. 2016;374(3):223\u201332. https:\/\/doi.org\/10.1056\/NEJMoa1510791.","journal-title":"N Engl J Med"},{"issue":"2","key":"3501_CR20","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1038\/s41431-018-0283-3","volume":"27","author":"B Chen","year":"2019","unstructured":"Chen B, Wang W, Peng X, Jiang H, Zhang S, Li D, et al. The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility. Eur J Hum Genet. 2019;27(2):300\u20137. https:\/\/doi.org\/10.1038\/s41431-018-0283-3.","journal-title":"Eur J Hum Genet"},{"key":"3501_CR21","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1016\/j.ejogrb.2022.10.017","volume":"279","author":"W Li","year":"2022","unstructured":"Li W, Li Q, Xu X, Wang C, Hu K, Xu J. Novel mutations in TUBB8 and ZP3 cause human oocyte maturation arrest and female infertility. Eur J Obstet Gynecol Reprod Biol. 2022;279:132\u20139. https:\/\/doi.org\/10.1016\/j.ejogrb.2022.10.017.","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"issue":"4","key":"3501_CR22","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1007\/s10815-023-02734-x","volume":"40","author":"J Zhang","year":"2023","unstructured":"Zhang J, Li S, Huang F, Xu R, Wang D, Song T, et al. A novel compound heterozygous mutation in TUBB8 causing early embryonic developmental arrest. J Assist Reprod Genet. 2023;40(4):753\u201363. https:\/\/doi.org\/10.1007\/s10815-023-02734-x.","journal-title":"J Assist Reprod Genet"},{"key":"3501_CR23","doi-asserted-by":"publisher","first-page":"865103","DOI":"10.3389\/fgene.2022.865103","volume":"13","author":"H Yuan","year":"2022","unstructured":"Yuan H, Chen J, Li N, Miao H, Chen Y, Lyu S, et al. Target-sequencing of female infertility pathogenic gene panel and a novel TUBB8 loss-of-function mutation. Front Genet. 2022;13:865103. https:\/\/doi.org\/10.3389\/fgene.2022.865103.","journal-title":"Front Genet"},{"issue":"5","key":"3501_CR24","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405\u201324. https:\/\/doi.org\/10.1038\/gim.2015.30.","journal-title":"Genet Med"},{"issue":"2","key":"3501_CR25","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1093\/humrep\/dew322","volume":"32","author":"B Chen","year":"2017","unstructured":"Chen B, Li B, Li D, Yan Z, Mao X, Xu Y, et al. Novel mutations and structural deletions in TUBB8: expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development. Hum Reprod. 2017;32(2):457\u201364. https:\/\/doi.org\/10.1093\/humrep\/dew322.","journal-title":"Hum Reprod"},{"issue":"1","key":"3501_CR26","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1111\/cge.13855","volume":"99","author":"P Yang","year":"2021","unstructured":"Yang P, Yin C, Li M, Ma S, Cao Y, Zhang C, et al. Mutation analysis of tubulin beta 8 class VIII in infertile females with oocyte or embryonic defects. Clin Genet. 2021;99(1):208\u201314. https:\/\/doi.org\/10.1111\/cge.13855.","journal-title":"Clin Genet"},{"issue":"1","key":"3501_CR27","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1186\/s13048-020-00637-4","volume":"13","author":"Q Xing","year":"2020","unstructured":"Xing Q, Wang R, Chen B, Li L, Pan H, Li T, et al. Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family. J Ovarian Res. 2020;13(1):42. https:\/\/doi.org\/10.1186\/s13048-020-00637-4.","journal-title":"J Ovarian Res"},{"issue":"5","key":"3501_CR28","doi-asserted-by":"publisher","first-page":"891","DOI":"10.1016\/j.rbmo.2021.07.020","volume":"43","author":"T Cao","year":"2021","unstructured":"Cao T, Guo J, Xu Y, Lin X, Deng W, Cheng L, et al. Two mutations in TUBB8 cause developmental arrest in human oocytes and early embryos. Reprod Biomed Online. 2021;43(5):891\u20138. https:\/\/doi.org\/10.1016\/j.rbmo.2021.07.020.","journal-title":"Reprod Biomed Online"},{"issue":"8","key":"3501_CR29","doi-asserted-by":"publisher","first-page":"1837","DOI":"10.1007\/s10815-020-01830-6","volume":"37","author":"L Zhao","year":"2020","unstructured":"Zhao L, Guan Y, Wang W, Chen B, Xu S, Wu L, et al. Identification novel mutations in TUBB8 in female infertility and a novel phenotype of large polar body in oocytes with TUBB8 mutations. J Assist Reprod Genet. 2020;37(8):1837\u201347. https:\/\/doi.org\/10.1007\/s10815-020-01830-6.","journal-title":"J Assist Reprod Genet"},{"issue":"2","key":"3501_CR30","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1016\/j.rbmo.2022.10.008","volume":"46","author":"T Lin","year":"2023","unstructured":"Lin T, Liu W, Han W, Tong K, Xiang Y, Liao H, et al. Genetic screening and analysis of TUBB8 variants in females seeking ART. Reprod Biomed Online. 2023;46(2):244\u201354. https:\/\/doi.org\/10.1016\/j.rbmo.2022.10.008.","journal-title":"Reprod Biomed Online"},{"issue":"4","key":"3501_CR31","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1111\/cge.13505","volume":"95","author":"Z Zhang","year":"2019","unstructured":"Zhang Z, Mu J, Zhao J, Zhou Z, Chen B, Wu L, et al. Novel mutations in WEE2: expanding the spectrum of mutations responsible for human fertilization failure. Clin Genet. 2019;95(4):520\u20134. https:\/\/doi.org\/10.1111\/cge.13505.","journal-title":"Clin Genet"},{"issue":"11","key":"3501_CR32","doi-asserted-by":"publisher","first-page":"2861","DOI":"10.1007\/s10815-021-02285-z","volume":"38","author":"J Jin","year":"2021","unstructured":"Jin J, Tong X, Zhang YL, Yang W, Ma Y, Ren P, et al. Novel WEE2 compound heterozygous mutations identified in patients with fertilization failure or poor fertilization. J Assist Reprod Genet. 2021;38(11):2861\u20139. https:\/\/doi.org\/10.1007\/s10815-021-02285-z.","journal-title":"J Assist Reprod Genet"},{"issue":"3","key":"3501_CR33","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1016\/j.fertnstert.2018.11.018","volume":"111","author":"S Zhao","year":"2019","unstructured":"Zhao S, Chen T, Yu M, Bian Y, Cao Y, Ning Y, et al. Novel WEE2 gene variants identified in patients with fertilization failure and female infertility. Fertil Steril. 2019;111(3):519\u201326. https:\/\/doi.org\/10.1016\/j.fertnstert.2018.11.018.","journal-title":"Fertil Steril"},{"issue":"2","key":"3501_CR34","doi-asserted-by":"publisher","first-page":"a032862","DOI":"10.1101\/cshperspect.a032862","volume":"11","author":"ED Karousis","year":"2019","unstructured":"Karousis ED, M\u00fchlemann O. Nonsense-mediated mRNA decay begins where translation ends. Cold Spring Harb Perspect Biol. 2019;11(2):a032862. https:\/\/doi.org\/10.1101\/cshperspect.a032862.","journal-title":"Cold Spring Harb Perspect Biol"},{"issue":"4","key":"3501_CR35","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1016\/j.ajhg.2017.08.018","volume":"101","author":"B Chen","year":"2017","unstructured":"Chen B, Zhang Z, Sun X, Kuang Y, Mao X, Wang X, et al. Biallelic mutations in PATL2 cause female infertility characterized by oocyte maturation arrest. Am J Hum Genet. 2017;101(4):609\u201315. https:\/\/doi.org\/10.1016\/j.ajhg.2017.08.018.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"3501_CR36","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1016\/j.ajhg.2017.08.009","volume":"101","author":"S Maddirevula","year":"2017","unstructured":"Maddirevula S, Coskun S, Alhassan S, Elnour A, Alsaif HS, Ibrahim N, et al. Female infertility caused by mutations in the oocyte-specific translational repressor PATL2. Am J Hum Genet. 2017;101(4):603\u20138. https:\/\/doi.org\/10.1016\/j.ajhg.2017.08.009.","journal-title":"Am J Hum Genet"},{"issue":"5","key":"3501_CR37","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1038\/s10038-019-0568-6","volume":"64","author":"L Wu","year":"2019","unstructured":"Wu L, Chen H, Li D, Song D, Chen B, Yan Z, et al. Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility. J Hum Genet. 2019;64(5):379\u201385. https:\/\/doi.org\/10.1038\/s10038-019-0568-6.","journal-title":"J Hum Genet"},{"issue":"3","key":"3501_CR38","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1007\/s10815-022-02412-4","volume":"39","author":"L Huang","year":"2022","unstructured":"Huang L, Wang Y, Lu F, Jin Q, Song G, Ji J, et al. Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest. J Assist Reprod Genet. 2022;39(3):711\u20138. https:\/\/doi.org\/10.1007\/s10815-022-02412-4.","journal-title":"J Assist Reprod Genet"},{"issue":"5","key":"3501_CR39","doi-asserted-by":"publisher","first-page":"1233","DOI":"10.1007\/s10815-024-03071-3","volume":"41","author":"Z Ye","year":"2024","unstructured":"Ye Z, Li D, Niu X, Yang A, Pan Z, Yu R, et al. Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF\/ICSI failure. J Assist Reprod Genet. 2024;41(5):1233\u201343. https:\/\/doi.org\/10.1007\/s10815-024-03071-3.","journal-title":"J Assist Reprod Genet"},{"key":"3501_CR40","doi-asserted-by":"publisher","first-page":"9278518","DOI":"10.1155\/2024\/9278518","volume":"2024","author":"R Li","year":"2024","unstructured":"Li R, Mei M, Zhou L, Zhao H, Yang M, Li Y, et al. Biallelic recessive mutations in TLE6 and NLRP5 cause female infertility characterized by human early embryonic arrest. Hum Mutat. 2024;2024:9278518. https:\/\/doi.org\/10.1155\/2024\/9278518.","journal-title":"Hum Mutat"},{"issue":"2","key":"3501_CR41","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1093\/humupd\/dmac044","volume":"29","author":"A Van Der Kelen","year":"2023","unstructured":"Van Der Kelen A, Okutman \u00d6, Javey E, Serdarogullari M, Janssens C, Ghosh MS, et al. A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development. Hum Reprod Update. 2023;29(2):218\u201332. https:\/\/doi.org\/10.1093\/humupd\/dmac044.","journal-title":"Hum Reprod Update"}],"container-title":["Journal of Assisted Reproduction and Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10815-025-03501-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10815-025-03501-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10815-025-03501-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T08:47:35Z","timestamp":1751532455000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10815-025-03501-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,21]]},"references-count":41,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["3501"],"URL":"https:\/\/doi.org\/10.1007\/s10815-025-03501-w","relation":{},"ISSN":["1058-0468","1573-7330"],"issn-type":[{"value":"1058-0468","type":"print"},{"value":"1573-7330","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,21]]},"assertion":[{"value":"11 December 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 April 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 May 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interest"}}]}}