747765fecc0623f33fc09d4804a10da6 pmc_9069069.pdf 3f6de52b89f7d5da76ffd59790e3e68656233454 pmc_9069069.pdf 7835005d17c381212c5654827767b8b199a7fa641d9a3cc8c7f900ecde6331fd pmc_9069069.pdf Title: Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome Subject: The American Journal of Human Genetics, 109 (2022) 750-758. doi:10.1016/j.ajhg.2022.02.003 Author: Federico Tessadori Creator: Elsevier Producer: Acrobat Distiller 8.1.0 (Windows) CreationDate: Fri Apr 1 09:34:37 2022 CEST ModDate: Fri Apr 1 19:11:00 2022 CEST Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 10 Encrypted: no Page size: 602.986 x 782.986 pts Page rot: 0 File size: 1928140 bytes Optimized: yes PDF version: 1.7 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- FCKKBA+AdvPS977E Type 1C WinAnsi yes yes no 499 0 FCKKBB+AdvPS9779 Type 1C WinAnsi yes yes no 501 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ErrorMessage: edu.harvard.hul.ois.jhove.module.pdf.PdfInvalidException: Invalid indirect destination - referenced object 'aff11' cannot be found Offset: 1906918 ID: PDF-HUL-122 ErrorMessage: edu.harvard.hul.ois.jhove.module.pdf.PdfInvalidException: Invalid indirect destination - referenced object 'aff12' cannot be found Offset: 1906918 ID: PDF-HUL-122 ErrorMessage: edu.harvard.hul.ois.jhove.module.pdf.PdfInvalidException: Invalid indirect destination - referenced object 'aff13' cannot be found Offset: 1906918 ID: PDF-HUL-122 ErrorMessage: edu.harvard.hul.ois.jhove.module.pdf.PdfInvalidException: Invalid indirect destination - referenced object 'aff13' cannot be found Offset: 1906918 ID: PDF-HUL-122 ErrorMessage: edu.harvard.hul.ois.jhove.module.pdf.PdfInvalidException: Invalid indirect destination - referenced object 'aff14' cannot be found Offset: 1906918 ID: PDF-HUL-122 ErrorMessage: edu.harvard.hul.ois.jhove.module.pdf.PdfInvalidException: Invalid indirect destination - referenced 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WinAnsiEncoding CIDFontType2: Font: BaseFont: FCFOCO+Arial-BoldMT CIDSystemInfo: Registry: Adobe Registry: Identity Supplement: 0 FontDescriptor: FontName: FCFOCO+Arial-BoldMT Flags: Symbolic FontBBox: -628, -376, 2000, 1056 FontFile2: true Font: BaseFont: FCFMMF+ArialMT CIDSystemInfo: Registry: Adobe Registry: Identity Supplement: 0 FontDescriptor: FontName: FCFMMF+ArialMT Flags: Symbolic FontBBox: -665, -325, 2000, 1040 FontFile2: true XMP: application/pdf doi:10.1016/j.ajhg.2022.02.003 Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome Federico Tessadori Karen Duran Karen Knapp Matthias Fellner Sarah Smithson Ana Beleza Meireles Mariet W. Elting Quinten Waisfisz Anne O’Donnell-Luria Catherine Nowak Jessica Douglas Anne Ronan Theresa Brunet Urania Kotzaeridou Shayna Svihovec Margarita S. Saenz Isabelle Thiffault Florencia Del Viso Patrick Devine Shannon Rego Jessica Tenney Arie van Haeringen Claudia A.L. Ruivenkamp Saskia Koene Stephen P. Robertson Charulata Deshpande Rolph Pfundt Nienke Verbeek Jiddeke M. van de Kamp Janneke M.M. Weiss Anna Ruiz Elisabeth Gabau Ehud Banne Alexander Pepler Armand Bottani Sacha Laurent Michel Guipponi Emilia Bijlsma Ange-Line Bruel Arthur Sorlin Mary Willis Zoe Powis Thomas Smol Catherine Vincent-Delorme Diana Baralle Estelle Colin Nicole Revencu Eduardo Calpena Andrew O.M. Wilkie Maya Chopra Valerie Cormier-Daire Boris Keren Alexandra Afenjar Marcello Niceta Alessandra Terracciano Nicola Specchio Marco Tartaglia Marlene Rio Giulia Barcia Sophie Rondeau Cindy Colson Jeroen Bakkers Peter D. Mace Louise S. Bicknell Gijs van Haaften Deciphering Developmental Disorders Study histone H4 nucleosome neurodevelopmental disorder intellectual disability microcephaly zebrafish The American Journal of Human Genetics, 109 (2022) 750-758. doi:10.1016/j.ajhg.2022.02.003 The Author(s) journal The American Journal of Human Genetics © 2022 The Author(s). 0002-9297 109 4 7 April 2022 2022-04-07 750-758 750 758 10.1016/j.ajhg.2022.02.003 https://doi.org/10.1016/j.ajhg.2022.02.003 2010-04-23 true 10.1016/j.ajhg.2022.02.003 elsevier.com sciencedirect.com VoR 7.0 10.1016/j.ajhg.2022.02.003 noindex true 2010-04-23 true sciencedirect.com elsevier.com Elsevier 2022-04-01T13:04:37+05:30 2022-04-01T22:41+05:30 2022-04-01T22:41+05:30 True Acrobat Distiller 8.1.0 (Windows) uuid:c6282b0b-4670-45ef-a67d-c2ff53cd442a uuid:1db6a561-dd2f-446e-8122-bd7c73f67732 http://creativecommons.org/licenses/by-nc-nd/4.0/ Pages: Page: Label: 750 Sequence: 1 Annotations: Annotation: Subtype: Link Rect: 56, 548, 185, 558 Annotation: 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