{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T15:28:07Z","timestamp":1793892487231,"version":"4.8.0"},"reference-count":44,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,8,4]],"date-time":"2021-08-04T00:00:00Z","timestamp":1628035200000},"content-version":"vor","delay-in-days":184,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2020TQ0072"],"award-info":[{"award-number":["2020TQ0072"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2019M662786"],"award-info":[{"award-number":["2019M662786"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["19QA1407500"],"award-info":[{"award-number":["19QA1407500"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["18ZR1432300"],"award-info":[{"award-number":["18ZR1432300"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["2017SHZDZX01"],"award-info":[{"award-number":["2017SHZDZX01"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31521003"],"award-info":[{"award-number":["31521003"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81601340"],"award-info":[{"award-number":["81601340"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81971441"],"award-info":[{"award-number":["81971441"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81971447"],"award-info":[{"award-number":["81971447"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81901541"],"award-info":[{"award-number":["81901541"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31625015"],"award-info":[{"award-number":["31625015"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81871216"],"award-info":[{"award-number":["81871216"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["FLAGEL-OME ANR-19-CE17-0014"],"award-info":[{"award-number":["FLAGEL-OME ANR-19-CE17-0014"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010816","name":"Department of Science and Technology of Anhui Province","doi-asserted-by":"publisher","award":["2017070802D150"],"award-info":[{"award-number":["2017070802D150"]}],"id":[{"id":"10.13039\/501100010816","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["209451"],"award-info":[{"award-number":["209451"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1120356"],"award-info":[{"award-number":["APP1120356"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2018YFC1004900"],"award-info":[{"award-number":["2018YFC1004900"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2016YFC1000204"],"award-info":[{"award-number":["2016YFC1000204"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2021,2]]},"DOI":"10.1016\/j.ajhg.2021.01.002","type":"journal-article","created":{"date-parts":[[2021,1,19]],"date-time":"2021-01-19T10:30:13Z","timestamp":1611052213000},"page":"309-323","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":141,"title":["Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility"],"prefix":"10.1016","volume":"108","author":[{"given":"Chunyu","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaofeng","family":"Tu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingbo","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan J.","family":"Houston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco K.","family":"Mastrorosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaxiong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shixiong","family":"Tian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lanlan","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiangshan","family":"Cong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shenmin","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiwen","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuyan","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuyan","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingrong","family":"Lv","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ge","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinsong","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hexige","family":"Saiyin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojin","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aminata","family":"Tour\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre F.","family":"Ray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris A.","family":"Veltman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qinghua","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moira K.","family":"O\u2019Bryan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunxia","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue-Qiu","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4556-8276","authenticated-orcid":false,"given":"Feng","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"Suppl","key":"10.1016\/j.ajhg.2021.01.002_bib1","first-page":"s41","article-title":"Genetic dissection of\u00a0mammalian fertility pathways","volume":"4","author":"Matzuk","year":"2002","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.ajhg.2021.01.002_bib2","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1016\/S2213-8587(16)30040-7","article-title":"Novel concepts in the aetiology of male reproductive impairment","volume":"5","author":"Tournaye","year":"2017","journal-title":"Lancet Diabetes Endocrinol."},{"key":"10.1016\/j.ajhg.2021.01.002_bib3","doi-asserted-by":"crossref","first-page":"e13463","DOI":"10.1111\/and.13463","article-title":"Asthenozoospermia: Cellular and molecular contributing factors and treatment strategies","volume":"52","author":"Shahrokhi","year":"2020","journal-title":"Andrologia"},{"key":"10.1016\/j.ajhg.2021.01.002_bib4","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.ajhg.2013.11.017","article-title":"Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella","volume":"94","author":"Ben Khelifa","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib5","article-title":"The genetic architecture of morphological abnormalities of the sperm tail","author":"Tour\u00e9","year":"2020","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib6","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1136\/jmedgenet-2019-106479","article-title":"Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF","volume":"57","author":"Lv","year":"2020","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib7","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.ajhg.2020.06.004","article-title":"Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility","volume":"107","author":"Liu","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib8","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1136\/jmedgenet-2019-106775","article-title":"Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility","volume":"57","author":"Martinez","year":"2020","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib9","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1016\/j.ajhg.2020.07.010","article-title":"Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and\u00a0Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice","volume":"107","author":"He","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib10","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1038\/nature01722","article-title":"The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes","volume":"423","author":"Skaletsky","year":"2003","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2021.01.002_bib11","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1038\/ng.126","article-title":"The mouse X chromosome is enriched for multicopy testis genes showing postmeiotic expression","volume":"40","author":"Mueller","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib12","article-title":"The X chromosome and male infertility","author":"Vockel","year":"2019","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib13","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1093\/hmg\/5.7.933","article-title":"Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11","volume":"5","author":"Vogt","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib14","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1056\/NEJMoa1406192","article-title":"X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men","volume":"372","author":"Yatsenko","year":"2015","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ajhg.2021.01.002_bib15","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/j.ajhg.2016.06.012","article-title":"Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens","volume":"99","author":"Patat","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib16","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1016\/j.ajhg.2019.02.020","article-title":"Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice","volume":"104","author":"Liu","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib17","doi-asserted-by":"crossref","first-page":"1168","DOI":"10.1016\/j.ajhg.2019.10.010","article-title":"Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice","volume":"105","author":"Liu","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib18","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","article-title":"Fast and accurate long-read alignment with Burrows-Wheeler transform","volume":"26","author":"Li","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2021.01.002_bib19","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2021.01.002_bib20","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/75556","article-title":"Gene ontology: tool for the unification of biology","volume":"25","author":"Ashburner","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib21","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2021.01.002_bib22","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2021.01.002_bib23","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2021.01.002_bib24","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1186\/1471-2105-11-548","article-title":"Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces","volume":"11","author":"Venselaar","year":"2010","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.ajhg.2021.01.002_bib25","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2021.01.002_bib26","series-title":"R: A Language and Environment for Statistical Computing","year":"2011"},{"key":"10.1016\/j.ajhg.2021.01.002_bib27","doi-asserted-by":"crossref","first-page":"3572","DOI":"10.1093\/bioinformatics\/bty304","article-title":"AnnotSV: an integrated tool for structural variations annotation","volume":"34","author":"Geoffroy","year":"2018","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2021.01.002_bib28","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1016\/j.ajhg.2017.04.012","article-title":"Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella","volume":"100","author":"Tang","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib29","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1038\/cr.2017.58","article-title":"CRISPR-Cas9-mediated genome editing in one blastomere of two-cell embryos reveals a novel Tet3 function in regulating neocortical development","volume":"27","author":"Wang","year":"2017","journal-title":"Cell Res."},{"key":"10.1016\/j.ajhg.2021.01.002_bib30","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1038\/nature10443","article-title":"The role of Tet3 DNA dioxygenase in epigenetic reprogramming by oocytes","volume":"477","author":"Gu","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2021.01.002_bib31","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1136\/jmedgenet-2019-106344","article-title":"Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice","volume":"57","author":"Li","year":"2020","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib32","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1136\/jmedgenet-2019-106031","article-title":"Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations","volume":"56","author":"Wang","year":"2019","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib33","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1111\/cge.13644","article-title":"A novel homozygous CFAP65 mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella","volume":"96","author":"Zhang","year":"2019","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib34","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1016\/j.fertnstert.2013.12.047","article-title":"Variability in the morphologic assessment of human sperm: use of the strict criteria recommended by the World Health Organization in 2010","volume":"101","author":"Wang","year":"2014","journal-title":"Fertil. Steril."},{"key":"10.1016\/j.ajhg.2021.01.002_bib43","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1093\/humupd\/dmp048","article-title":"World Health Organization reference values for human semen characteristics","volume":"16","author":"Cooper","year":"2010","journal-title":"Hum. Reprod. Update"},{"key":"10.1016\/j.ajhg.2021.01.002_bib44","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1093\/humrep\/dev251","article-title":"Another look at human sperm morphology","volume":"31","author":"Auger","year":"2016","journal-title":"Hum. Reprod."},{"key":"10.1016\/j.ajhg.2021.01.002_bib35","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1093\/humrep\/dew083","article-title":"Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection","volume":"31","author":"Wambergue","year":"2016","journal-title":"Hum. Reprod."},{"key":"10.1016\/j.ajhg.2021.01.002_bib36","doi-asserted-by":"crossref","first-page":"2790","DOI":"10.1093\/humrep\/dei126","article-title":"Gene deletions in an infertile man with sperm fibrous sheath dysplasia","volume":"20","author":"Baccetti","year":"2005","journal-title":"Hum. Reprod."},{"key":"10.1016\/j.ajhg.2021.01.002_bib37","doi-asserted-by":"crossref","first-page":"17841","DOI":"10.1038\/s41598-017-18064-9","article-title":"Transcriptomic analysis of mitochondrial TFAM depletion changing cell morphology and proliferation","volume":"7","author":"Lee","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2021.01.002_bib38","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1093\/humupd\/dmw015","article-title":"The human epididymis: its function in sperm maturation","volume":"22","author":"Sullivan","year":"2016","journal-title":"Hum. Reprod. Update"},{"key":"10.1016\/j.ajhg.2021.01.002_bib39","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/jemt.10320","article-title":"Fibrous sheath of mammalian spermatozoa","volume":"61","author":"Eddy","year":"2003","journal-title":"Microsc. Res. Tech."},{"key":"10.1016\/j.ajhg.2021.01.002_bib40","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1038\/aja.2011.168","article-title":"Tales of the tail and sperm head aches: changing concepts on the prognostic significance of sperm pathologies affecting the head, neck and tail","volume":"14","author":"Chemes","year":"2012","journal-title":"Asian J. Androl."},{"key":"10.1016\/j.ajhg.2021.01.002_bib41","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.ajhg.2019.04.015","article-title":"Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia","volume":"105","author":"Whitfield","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.01.002_bib42","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.gene.2017.08.033","article-title":"A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF)","volume":"633","author":"Sha","year":"2017","journal-title":"Gene"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929721000021?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929721000021?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:47:56Z","timestamp":1777391276000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929721000021"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2]]},"references-count":44,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,2]]}},"alternative-id":["S0002929721000021"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2021.01.002","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2021,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2021.01.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}