35cc82549c32bad796cd2a0e631f20bd pmc_35013161.pdf 3bc809861712d0c35011518c274242a24c434978 pmc_35013161.pdf fd451781eb0df0f4cfac6e6527645b9674a604174cb34238e950fbef86cdbdee pmc_35013161.pdf Title: A de novo paradigm for male infertility Subject: Nature Communications, doi:10.1038/s41467-021-27132-8 Keywords: Author: M. S. Oud Creator: Springer Producer: iText® 5.3.5 ©2000-2012 1T3XT BVBA (SPRINGER SBM; licensed version) CreationDate: Tue Dec 21 16:29:33 2021 CET ModDate: Tue Jan 4 20:15:27 2022 CET Tagged: no UserProperties: no Suspects: no Form: AcroForm JavaScript: no Pages: 10 Encrypted: no Page size: 595.276 x 782.362 pts Page rot: 0 File size: 1627029 bytes Optimized: no PDF version: 1.4 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- GKBMPF+AdvOTf23bb480 Type 1C WinAnsi yes yes no 364 0 GKBMLE+AdvTTab7e17fd+22 Type 1C Custom yes yes no 49 0 GKBMPG+AdvOTf23bb480+fb Type 1C Custom yes yes yes 719 0 GKBMMF+AdvOTcb88df00 Type 1C WinAnsi yes yes no 50 0 Arial-BoldMT Type 1C WinAnsi yes no no 720 0 GKBJLA+AdvOTea1a7398 Type 1C WinAnsi yes yes no 58 0 GKBLAJ+AdvOTea1a7398+20 Type 1C WinAnsi yes yes no 59 0 GKBMLA+AdvTT2876772e+27 Type 1C Custom yes yes yes 366 0 GKBMLB+AdvOTea1a7398+fb Type 1C Custom yes yes yes 60 0 GKBMPH+AdvTTda6f6cb8.B Type 1C WinAnsi yes yes no 56 0 GKBMLC+AdvOT9bd21c25.I Type 1C WinAnsi yes yes no 61 0 GKBMLD+AdvTTab7e17fd Type 1C WinAnsi yes yes no 62 0 GKBNDM+AdvOTb65e897d.B Type 1C WinAnsi yes yes no 51 0 GKBNDK+AdvOT1ef757c0+20 Type 1C Custom yes yes yes 52 0 GKBNDL+AdvOT7d6df7ab.I Type 1C WinAnsi yes yes no 53 0 GKBNCI+AdvOT1ef757c0 Type 1C WinAnsi yes yes no 54 0 GKBNCJ+AdvOT1ef757c0+fb Type 1C Custom yes yes yes 55 0 GKBNCH+AdvOT125c650c Type 1C WinAnsi yes yes no 57 0 GKCABM+AdvOTb65e897d.B+20 Type 1C WinAnsi yes yes no 140 0 GKCABL+AdvTTab7e17fd+20 Type 1C Custom yes yes yes 141 0 GKCADN+AdvOT1ef757c0+22 Type 1C Custom yes yes yes 160 0 GKCEOB+AdvOTcb88df00+20 Type 1C WinAnsi yes yes no 161 0 GKCIGO+AdvOT8608a8d1 Type 1C WinAnsi yes yes no 188 0 GKCFAB+AdvOTcb88df00+fb Type 1C Custom yes yes yes 189 0 GKCIGN+AdvOTe75a9404.I Type 1C WinAnsi yes yes no 190 0 GKCINN+AdvOT1ef757c0+01 Type 1C Custom yes yes yes 322 0 GKCJFL+AdvOTf23bb480+20 Type 1C WinAnsi yes yes no 365 0 Jhove (Rel. 1.22.1, 2019-04-17) Date: 2022-01-27 02:24:52 CET RepresentationInformation: pmc_35013161.pdf ReportingModule: PDF-hul, Rel. 1.12.1 (2019-04-17) LastModified: 2022-01-24 03:37:14 CET Size: 1627029 Format: PDF Version: 1.4 Status: Well-Formed, but not valid SignatureMatches: PDF-hul ID: PDF-HUL-122 ErrorMessage: edu.harvard.hul.ois.jhove.module.pdf.PdfInvalidException: Invalid indirect destination - 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referenced object 'bm_CR68' cannot be found Offset: 960034 ID: PDF-HUL-122 ErrorMessage: edu.harvard.hul.ois.jhove.module.pdf.PdfInvalidException: Invalid indirect destination - referenced object 'bm_CR51' cannot be found Offset: 960034 ID: PDF-HUL-122 ErrorMessage: edu.harvard.hul.ois.jhove.module.pdf.PdfInvalidException: Invalid indirect destination - referenced object 'bm_CR69' cannot be found Offset: 960034 MIMEtype: application/pdf PDFMetadata: Objects: 869 FreeObjects: 1 IncrementalUpdates: 0 DocumentCatalog: PageLayout: SinglePage PageMode: UseOutlines Language: EN Outlines: Item: Title: A de novo paradigm for male infertility Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@612fc6eb Children: Item: Title: Results Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1060b431 Children: Item: Title: Discovery of de novo mutations in infertile male trios Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@612679d6 Item: Title: Intolerance analysis of genes with de novo loss-of-function mutations Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@11758f2a Item: Title: Missense intolerance in de novo mutation genes Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@e720b71 Item: Title: Protein–nobreakprotein interactions reveal link to mRNA splicing Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1b26f7b2 Item: Title: DNMs uncovering recessive disease and analysis of maternally inherited mutations Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@491cc5c9 Item: Title: Further analysis in additional cohorts of infertile males Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@74ad1f1f Item: Title: Phasing of de novo mutations to identify parent of origin Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@6a1aab78 Item: Title: Discussion Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@462d5aee Item: Title: Methods Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@69b0fd6f Children: Item: Title: Cohort of infertile patients and fertile parent trios Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@757942a1 Item: Title: Immunofluorescence staining of human testis biopsies Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@4a87761d Item: Title: Cohort of verified fertile Dutch parents Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@66d1af89 Item: Title: Exome sequencing Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@8646db9 Item: Title: Variant filtration and interpretation Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@37374a5e Item: Title: CNV analysis Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@4671e53b Item: Title: Variant validation Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@2db7a79b Item: Title: Functional enrichment Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@6950e31 Item: Title: Additional cohorts of infertile men Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@b7dd107 Item: Title: Burden testing Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@42eca56e Item: Title: Phasing analysis to determine parent-of-origin Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@52f759d7 Item: Title: Reporting summary Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7cbd213e Item: Title: Data availability Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@192d3247 Item: Title: Code availability Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@3ecd23d9 Item: Title: References Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@569cfc36 Item: Title: Acknowledgements Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@43bd930a Item: Title: Author contributions Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@33723e30 Item: Title: Competing interests Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@64f6106c Item: Title: Additional information Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@553a3d88 Info: Title: A de novo paradigm for male infertility Author: M. S. 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S. Oud R. M. Smits H. E. Smith F. K. Mastrorosa G. S. Holt B. J. Houston P. F. Vries B. K. S. Alobaidi L. E. Batty H. Ismail J. Greenwood H. Sheth A. Mikulasova G. D. N. Astuti C. Gilissen K. McEleny H. Turner J. Coxhead S. Cockell D. D. M. Braat K. Fleischer K. W. M. D’Hauwers E. Schaafsma Donald F. Conrad Liina Nagirnaja Kenneth I. Aston Douglas T. Carrell James M. Hotaling Timothy G. Jenkins Rob McLachlan Moira K. O’Bryan Peter N. Schlegel Michael L. Eisenberg Jay I. Sandlow Emily S. Jungheim Kenan R. Omurtag Alexandra M. Lopes Susana Seixas Filipa Carvalho Susana Fernandes Alberto Barros João Gonçalves Iris Caetano Graça Pinto Sónia Correia Maris Laan Margus Punab Ewa Rajpert-De Meyts Niels Jørgensen Kristian Almstrup Csilla G. Krausz Keith A. Jarvi L. Nagirnaja D. F. Conrad C. Friedrich S. Kliesch K. I. Aston A. Riera-Escamilla C. Krausz C. Gonzaga-Jauregui M. Santibanez-Koref D. J. Elliott L. E. L. M. Vissers F. Tüttelmann M. K. O’Bryan L. Ramos M. J. Xavier G. W. Heijden J. A. Veltman Springer US Nature Communications, doi:10.1038/s41467-021-27132-8 Springer 2022-01-04T20:15:27+01:00 2021-12-21T20:59:33+05:30 2022-01-04T20:15:27+01:00 True iText® 5.3.5 ©2000-2012 1T3XT BVBA (SPRINGER SBM; licensed version) uuid:8bb11c7e-3a76-404c-835e-78ae1eb11fe2 uuid:1a2c0418-18f7-40a7-9c0b-0ea9e9f99ed1 default 1 converted uuid:cd960d2a-9c14-4829-bffe-470f60ce4dd0 converted to PDF/A-2b pdfToolbox 2021-12-21T21:00:19+05:30 2 B http://ns.adobe.com/pdf/1.3/ pdf Adobe PDF Schema internal A name object indicating whether the document has been modified to include trapping information Trapped Text http://ns.adobe.com/pdfx/1.3/ pdfx Adobe Document Info PDF eXtension Schema internal ID of PDF/X standard GTS_PDFXVersion Text internal Conformance level of PDF/X standard GTS_PDFXConformance Text internal Company creating the PDF Company Text internal Date when document was last modified SourceModified Text http://ns.adobe.com/xap/1.0/mm/ xmpMM XMP Media Management Schema internal UUID based identifier for specific incarnation of a document InstanceID URI internal The common identifier for all versions and renditions of a document. 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