{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T22:08:10Z","timestamp":1790633290173,"version":"4.1.0"},"reference-count":44,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2011,7,1]],"date-time":"2011-07-01T00:00:00Z","timestamp":1309478400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":749,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2011,7]]},"DOI":"10.1016\/j.ajhg.2011.05.017","type":"journal-article","created":{"date-parts":[[2011,6,27]],"date-time":"2011-06-27T13:43:04Z","timestamp":1309182184000},"page":"28-43","source":"Crossref","is-referenced-by-count":231,"title":["Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency"],"prefix":"10.1016","volume":"89","author":[{"given":"Alan\u00a0F.","family":"Rope","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rune","family":"Evjenth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinchuan","family":"Xing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer\u00a0J.","family":"Johnston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey\u00a0J.","family":"Swensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.\u00a0Evan","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barry","family":"Moore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chad\u00a0D.","family":"Huff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynne\u00a0M.","family":"Bird","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John\u00a0C.","family":"Carey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John\u00a0M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy\u00a0A.","family":"Stevens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christa","family":"Schank","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi\u00a0Deborah","family":"Fain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reid","family":"Robison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Dalley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Chin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah\u00a0T.","family":"South","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theodore\u00a0J.","family":"Pysher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn\u00a0B.","family":"Jorde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hakon","family":"Hakonarson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan\u00a0R.","family":"Lillehaug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie\u00a0G.","family":"Biesecker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Yandell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Arnesen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gholson\u00a0J.","family":"Lyon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2011.05.017_bib1","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1038\/ng.646","article-title":"Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome","volume":"42","author":"Ng","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.05.017_bib2","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1038\/ng.499","article-title":"Exome sequencing identifies the cause of a mendelian disorder","volume":"42","author":"Ng","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.05.017_bib3","doi-asserted-by":"crossref","first-page":"19096","DOI":"10.1073\/pnas.0910672106","article-title":"Genetic diagnosis by whole exome capture and massively parallel DNA sequencing","volume":"106","author":"Choi","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2011.05.017_bib4","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.ajhg.2010.07.007","article-title":"Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome","volume":"87","author":"Pierce","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.05.017_bib5","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/nature09327","article-title":"Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations","volume":"467","author":"Bilg\u00fcvar","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2011.05.017_bib6","doi-asserted-by":"crossref","first-page":"e8232","DOI":"10.1371\/journal.pone.0008232","article-title":"Exome sequencing of a multigenerational human pedigree","volume":"4","author":"Hedges","year":"2009","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2011.05.017_bib7","doi-asserted-by":"crossref","first-page":"e13630","DOI":"10.1371\/journal.pone.0013630","article-title":"Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome","volume":"5","author":"Bonnefond","year":"2010","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2011.05.017_bib8","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1126\/science.1186802","article-title":"Analysis of genetic inheritance in a family quartet by whole-genome sequencing","volume":"328","author":"Roach","year":"2010","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2011.05.017_bib9","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1016\/j.ajhg.2010.04.007","article-title":"Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate","volume":"86","author":"Johnston","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.05.017_bib10","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1086\/429346","article-title":"Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations","volume":"76","author":"Johnston","year":"2005","journal-title":"Am. J. Hum. Genet."},{"issue":"Suppl 6","key":"10.1016\/j.ajhg.2011.05.017_bib11","doi-asserted-by":"crossref","first-page":"S5","DOI":"10.1186\/1753-6561-3-s6-s5","article-title":"Application of reverse-phase HPLC to quantify oligopeptide acetylation eliminates interference from unspecific acetyl CoA hydrolysis","volume":"3","author":"Evjenth","year":"2009","journal-title":"BMC Proc"},{"key":"10.1016\/j.ajhg.2011.05.017_bib12","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","article-title":"A map of human genome variation from population-scale sequencing","volume":"467","author":"Durbin","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2011.05.017_bib13","doi-asserted-by":"crossref","first-page":"31122","DOI":"10.1074\/jbc.M109.001347","article-title":"Human Naa50p (Nat5\/San) displays both protein N alpha- and N epsilon-acetyltransferase activity","volume":"284","author":"Evjenth","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2011.05.017_bib14","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."},{"issue":"Database issue","key":"10.1016\/j.ajhg.2011.05.017_bib15","doi-asserted-by":"crossref","first-page":"D876","DOI":"10.1093\/nar\/gkq963","article-title":"The UCSC Genome Browser database: Update 2011","volume":"39","author":"Fujita","year":"2011","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2011.05.017_bib16","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."},{"issue":"Database issue","key":"10.1016\/j.ajhg.2011.05.017_bib17","doi-asserted-by":"crossref","first-page":"D5","DOI":"10.1093\/nar\/gkp967","article-title":"Database resources of the National Center for Biotechnology Information","volume":"38","author":"Sayers","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2011.05.017_bib18","doi-asserted-by":"crossref","first-page":"R88","DOI":"10.1186\/gb-2010-11-8-r88","article-title":"A standard variation file format for human genome sequences","volume":"11","author":"Reese","year":"2010","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2011.05.017_bib19","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1093\/bioinformatics\/btp614","article-title":"The GNUMAP algorithm: Unbiased probabilistic mapping of oligonucleotides from next-generation sequencing","volume":"26","author":"Clement","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2011.05.017_bib20","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1038\/ng.680","article-title":"Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants","volume":"42","author":"Li","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.05.017_bib21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.10201","article-title":"Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients","volume":"120A","author":"Kurpinski","year":"2003","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2011.05.017_bib22","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1101\/gr.092841.109","article-title":"The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine","volume":"19","author":"Biesecker","year":"2009","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2011.05.017_bib23","doi-asserted-by":"crossref","DOI":"10.1101\/gr.123158.111","article-title":"A probabilistic disease-gene finder for personal genomes","volume":"21","author":"Yandell","year":"2011","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2011.05.017_bib24","doi-asserted-by":"crossref","first-page":"1420","DOI":"10.1101\/gr.106716.110","article-title":"Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing","volume":"20","author":"Teer","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2011.05.017_bib25","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/ng917","article-title":"A high-resolution recombination map of the human genome","volume":"31","author":"Kong","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.05.017_bib26","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1101\/gr.115972.110","article-title":"Maximum-likelihood estimation of recent shared ancestry (ERSA)","volume":"21","author":"Huff","year":"2011","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2011.05.017_bib27","doi-asserted-by":"crossref","first-page":"8157","DOI":"10.1073\/pnas.0901931106","article-title":"Proteomics analyses reveal the evolutionary conservation and divergence of N-terminal acetyltransferases from yeast and humans","volume":"106","author":"Arnesen","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2011.05.017_bib28","doi-asserted-by":"crossref","first-page":"2067","DOI":"10.1002\/j.1460-2075.1989.tb03615.x","article-title":"Identification and characterization of genes and mutants for an N-terminal acetyltransferase from yeast","volume":"8","author":"Mullen","year":"1989","journal-title":"EMBO J."},{"issue":"Suppl 6","key":"10.1016\/j.ajhg.2011.05.017_bib29","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1186\/1753-6561-3-s6-s2","article-title":"A synopsis of eukaryotic Nalpha-terminal acetyltransferases: Nomenclature, subunits and substrates","volume":"3","author":"Polevoda","year":"2009","journal-title":"BMC Proc"},{"key":"10.1016\/j.ajhg.2011.05.017_bib30","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1126\/science.1183147","article-title":"N-terminal acetylation of cellular proteins creates specific degradation signals","volume":"327","author":"Hwang","year":"2010","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2011.05.017_bib31","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1042\/BJ20041071","article-title":"Identification and characterization of the human ARD1-NATH protein acetyltransferase complex","volume":"386","author":"Arnesen","year":"2005","journal-title":"Biochem. J."},{"key":"10.1016\/j.ajhg.2011.05.017_bib32","doi-asserted-by":"crossref","first-page":"2777","DOI":"10.1002\/ijc.25275","article-title":"Depletion of the human N\u03b1-terminal acetyltransferase A induces p53-dependent apoptosis and p53-independent growth inhibition","volume":"127","author":"Gromyko","year":"2010","journal-title":"Int. J. Cancer"},{"key":"10.1016\/j.ajhg.2011.05.017_bib33","doi-asserted-by":"crossref","first-page":"1968","DOI":"10.1110\/ps.062264006","article-title":"Characterization of the native and fibrillar conformation of the human Nalpha-acetyltransferase ARD1","volume":"15","author":"S\u00e1nchez-Puig","year":"2006","journal-title":"Protein Sci."},{"key":"10.1016\/j.ajhg.2011.05.017_bib34","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1021\/bi00699a001","article-title":"Conformational parameters for amino acids in helical, beta-sheet, and random coil regions calculated from proteins","volume":"13","author":"Chou","year":"1974","journal-title":"Biochemistry"},{"key":"10.1016\/j.ajhg.2011.05.017_bib35","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: Predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2011.05.017_bib36","doi-asserted-by":"crossref","DOI":"10.1074\/mcp.M110.004580","article-title":"Proteome-derived peptide libraries allow detailed analysis of the substrate specificities of N{alpha}-acetyltransferases and point to hNaa10p as the post-translational actin N{alpha}-acetyltransferase","volume":"10","author":"Van Damme","year":"2011","journal-title":"Mol. Cell. Proteomics"},{"key":"10.1016\/j.ajhg.2011.05.017_bib37","doi-asserted-by":"crossref","first-page":"2813","DOI":"10.1002\/dvdy.22418","article-title":"Drosophila variable nurse cells encodes arrest defective 1 (ARD1), the catalytic subunit of the major N-terminal acetyltransferase complex","volume":"239","author":"Wang","year":"2010","journal-title":"Dev. Dyn."},{"key":"10.1016\/j.ajhg.2011.05.017_bib38","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/S0166-6851(00)00322-4","article-title":"Genetic manipulation indicates that ARD1 is an essential N(infinity)-acetyltransferase in Trypanosoma brucei","volume":"111","author":"Ingram","year":"2000","journal-title":"Mol. Biochem. Parasitol."},{"key":"10.1016\/j.ajhg.2011.05.017_bib39","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1038\/nature03353","article-title":"Full-genome RNAi profiling of early embryogenesis in Caenorhabditis elegans","volume":"434","author":"S\u00f6nnichsen","year":"2005","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2011.05.017_bib40","doi-asserted-by":"crossref","first-page":"10677","DOI":"10.1158\/0008-5472.CAN-06-3171","article-title":"Human arrest defective 1 acetylates and activates beta-catenin, promoting lung cancer cell proliferation","volume":"66","author":"Lim","year":"2006","journal-title":"Cancer Res."},{"key":"10.1016\/j.ajhg.2011.05.017_bib41","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.ccr.2010.11.010","article-title":"N-\u03b1-acetyltransferase 10 protein suppresses cancer cell metastasis by binding PIX proteins and inhibiting Cdc42\/Rac1 activity","volume":"19","author":"Hua","year":"2011","journal-title":"Cancer Cell"},{"key":"10.1016\/j.ajhg.2011.05.017_bib42","doi-asserted-by":"crossref","first-page":"2920","DOI":"10.1172\/JCI42275","article-title":"hNaa10p contributes to tumorigenesis by facilitating DNMT1-mediated tumor suppressor gene silencing","volume":"120","author":"Lee","year":"2010","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ajhg.2011.05.017_bib43","doi-asserted-by":"crossref","first-page":"2340","DOI":"10.1038\/jid.2009.103","article-title":"From the rarest to the most common: Insights from progeroid syndromes into skin cancer and aging","volume":"129","author":"Capell","year":"2009","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.ajhg.2011.05.017_bib44","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/nature09879","article-title":"Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome","volume":"472","author":"Liu","year":"2011","journal-title":"Nature"}],"updated-by":[{"DOI":"10.1016\/j.ajhg.2011.07.008","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2011,8,12]],"date-time":"2011-08-12T00:00:00Z","timestamp":1313107200000}}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929711002102?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929711002102?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,6,12]],"date-time":"2019-06-12T11:40:31Z","timestamp":1560339631000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929711002102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,7]]},"references-count":44,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,7]]}},"alternative-id":["S0002929711002102"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2011.05.017","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2011,7]]}}}