{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T20:44:21Z","timestamp":1793133861566,"version":"4.5.0"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2017,3,1]],"date-time":"2017-03-01T00:00:00Z","timestamp":1488326400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2017,3,1]],"date-time":"2017-03-01T00:00:00Z","timestamp":1488326400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U54HG006542"],"award-info":[{"award-number":["U54HG006542"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U01HG007709"],"award-info":[{"award-number":["U01HG007709"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS058529"],"award-info":[{"award-number":["NS058529"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Health Regional Agency from Poitou-Charentes","award":["HUGODIMS, 2013, RC14_0107"],"award-info":[{"award-number":["HUGODIMS, 2013, RC14_0107"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2017,4]]},"DOI":"10.1007\/s00439-017-1763-1","type":"journal-article","created":{"date-parts":[[2017,3,1]],"date-time":"2017-03-01T07:53:33Z","timestamp":1488354813000},"page":"377-386","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":56,"title":["Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features"],"prefix":"10.1007","volume":"136","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6456-7490","authenticated-orcid":false,"given":"Jing","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomasz","family":"Gambin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Przemyslaw","family":"Szafranski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed Al","family":"Balwi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulrahman","family":"Alswaid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihadh","family":"Al-Gazali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisha M. Al","family":"Shamsi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makanko","family":"Komara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bassam R.","family":"Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Roeder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"McAuley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel S.","family":"Roy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David K.","family":"Manchester","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Magoulas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren E.","family":"King","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vickie","family":"Hannig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Bonneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Sophie","family":"Denomm\u00e9-Pichon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majida","family":"Charif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Besnard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"B\u00e9zieau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Cogn\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris","family":"Andrieux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenmiao","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weimin","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Vetrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia A.","family":"Ward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sau Wai","family":"Cheung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weimin","family":"Bi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine M.","family":"Eng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaping","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ankita","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seema R.","family":"Lalani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawe\u0142","family":"Stankiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,3,1]]},"reference":[{"key":"1763_CR2","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1016\/S0968-0004(01)01787-X","volume":"26","author":"L Aravind","year":"2001","unstructured":"Aravind L (2001) The WWE domain: a common interaction module in protein ubiquitination and ADP ribosylation. Trends Biochem Sci 26:273\u2013275","journal-title":"Trends Biochem Sci"},{"key":"1763_CR3","doi-asserted-by":"publisher","first-page":"1326","DOI":"10.1002\/humu.21360","volume":"31","author":"PM Boone","year":"2010","unstructured":"Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P (2010) Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat 31:1326\u20131342","journal-title":"Hum Mutat"},{"issue":"2","key":"1763_CR4","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1007\/s00439-016-1743-x","volume":"136","author":"NC Bramswig","year":"2017","unstructured":"Bramswig NC, L\u00fcdecke HJ, Pettersson M, Albrecht B, Bernier RA, Cremer K, Eichler EE, Falkenstein D, Gerdts J, Jansen S, Kuechler A, Kvarnung M, Lindstrand A, Nilsson D, Nordgren A, Pfundt R, Spruijt L, Surowy HM, de Vries BB, Wieland T, Engels H, Strom TM, Kleefstra T, Wieczorek D (2017) Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Hum Genet 136(2):179\u2013192","journal-title":"Hum Genet"},{"key":"1763_CR5","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1016\/j.molcel.2013.05.006","volume":"51","author":"D Chen","year":"2013","unstructured":"Chen D, Kon N, Zhong J, Zhang P, Yu L, Gu W (2013) Differential effects on ARF stability by normal versus oncogenic levels of c-Myc expression. Mol Cell 51:46\u201356","journal-title":"Mol Cell"},{"key":"1763_CR6","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1038\/nature08820","volume":"464","author":"D Chen","year":"2010","unstructured":"Chen D, Shan J, Zhu WG, Qin J, Gu W (2010) Transcription-independent ARF regulation in oncogenic stress-mediated p53 responses. Nature 464:624\u2013627","journal-title":"Nature"},{"key":"1763_CR7","doi-asserted-by":"publisher","first-page":"8929","DOI":"10.1074\/jbc.275.12.8929","volume":"275","author":"Y Chen","year":"2000","unstructured":"Chen Y, McPhie DL, Hirschberg J, Neve RL (2000) The amyloid precursor protein-binding protein APP-BP1 drives the cell cycle through the S-M checkpoint and causes apoptosis in neurons. J Biol Chem 275:8929\u20138935","journal-title":"J Biol Chem"},{"key":"1763_CR8","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1016\/j.ejmg.2008.08.002","volume":"51","author":"M Doco-Fenzy","year":"2008","unstructured":"Doco-Fenzy M, Landais E, Andrieux J, Schneider A, Delemer B, Sulmont V, Melin JP, Ploton D, Thevenard J, Monboisse JC, Belouadah M, Lefebvre F, Durlach A, Goossens M, Albuisson J, Motte J, Gaillard D (2008) Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation. Eur J Med Genet 51:598\u2013607","journal-title":"Eur J Med Genet"},{"key":"1763_CR9","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1016\/j.cell.2012.06.039","volume":"150","author":"T Gudjonsson","year":"2012","unstructured":"Gudjonsson T, Altmeyer M, Savic V, Toledo L, Dinant C, Gr\u00f8fte M, Bartkova J, Poulsen M, Oka Y, Bekker-Jensen S, Mailand N, Neumann B, Heriche JK, Shearer R, Saunders D, Bartek J, Lukas J, Lukas C (2012) TRIP12 and UBR5 suppress spreading of chromatin ubiquitylation at damaged chromosomes. Cell 150:697\u2013709","journal-title":"Cell"},{"key":"1763_CR10","doi-asserted-by":"publisher","first-page":"35593","DOI":"10.1074\/jbc.M114.620104","volume":"289","author":"N Hanoun","year":"2014","unstructured":"Hanoun N, Fritsch S, Gayet O, Gigoux V, Cordelier P, Dusetti N, Torrisani J, Dufresne M (2014) The E3 ubiquitin ligase thyroid hormone receptor-interacting protein 12 targets pancreas transcription factor 1a for proteasomal degradation. J Biol Chem 289:35593\u201335604","journal-title":"J Biol Chem"},{"key":"1763_CR11","doi-asserted-by":"publisher","first-page":"e25871","DOI":"10.1371\/journal.pone.0025871","volume":"6","author":"M Kajiro","year":"2011","unstructured":"Kajiro M, Tsuchiya M, Kawabe Y, Furumai R, Iwasaki N, Hayashi Y et al (2011) The E3 ubiquitin ligase activity of Trip12 is essential for mouse embryogenesis. PLoS ONE 6:e25871","journal-title":"PLoS ONE"},{"key":"1763_CR12","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O\u2019Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG, Exome Aggregation Consortium (2016) Analysis of protein-coding genetic variation in 60,706 humans. Nature 536:285\u2013291","journal-title":"Nature"},{"key":"1763_CR13","doi-asserted-by":"publisher","first-page":"1194","DOI":"10.1038\/nn.4352","volume":"19","author":"SH Lelieveld","year":"2016","unstructured":"Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, L\u00f6hner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, Rump P, Rinne T, Nelen MR, Veltman JA, Vissers LE, Brunner HG, Gilissen C (2016) Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nat Neurosci 19:1194\u20131196","journal-title":"Nat Neurosci"},{"key":"1763_CR14","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1111\/cge.12740","volume":"89","author":"V Oikonomakis","year":"2016","unstructured":"Oikonomakis V, Kosma K, Mitrakos A, Sofocleous C, Pervanidou P, Syrmou A, Pampanos A, Psoni S, Fryssira H, Kanavakis E, Kitsiou-Tzeli S, Tzetis M (2016) Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications. Clin Genet 89:708\u2013718","journal-title":"Clin Genet"},{"key":"1763_CR15","doi-asserted-by":"publisher","first-page":"5595","DOI":"10.1038\/ncomms6595","volume":"5","author":"BJ O\u2019Roak","year":"2014","unstructured":"O\u2019Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, Vives L, Baker C, Hiatt JB, Nickerson DA, Bernier R, Shendure J, Eichler EE (2014) Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nat Commun 5:5595","journal-title":"Nat Commun"},{"key":"1763_CR16","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1016\/j.bbrc.2008.07.019","volume":"374","author":"Y Park","year":"2008","unstructured":"Park Y, Yoon SK, Yoon JB (2008) TRIP12 functions as an E3 ubiquitin ligase of APP-BP1. Biochem Biophys Res Commun 374:294\u2013298","journal-title":"Biochem Biophys Res Commun"},{"key":"1763_CR17","doi-asserted-by":"publisher","first-page":"677","DOI":"10.1016\/j.ajhg.2014.03.018","volume":"94","author":"D Pinto","year":"2014","unstructured":"Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Concei\u00e7\u00e3o IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Rog\u00e9 B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jim\u00e9nez Gonz\u00e1lez P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Caf\u00e9 C, Brennan S, Bourgeron T, Bolton PF, B\u00f6lte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW (2014) Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet 94:677\u2013694","journal-title":"Am J Hum Genet"},{"key":"1763_CR18","doi-asserted-by":"publisher","first-page":"e50548","DOI":"10.1371\/journal.pone.0050548","volume":"7","author":"EG Poulsen","year":"2012","unstructured":"Poulsen EG, Steinhauer C, Lees M, Lauridsen AM, Ellgaard L, Hartmann-Petersen R (2012) HUWE1 and TRIP12 collaborate in degradation of ubiquitin-fusion proteins and misframed ubiquitin. PLoS ONE 7:e50548","journal-title":"PLoS ONE"},{"key":"1763_CR19","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1038\/nrm2690","volume":"10","author":"D Rotin","year":"2009","unstructured":"Rotin D, Kumar S (2009) Physiological functions of the HECT family of ubiquitin ligases. Nat Rev Mol Cell Biol 10:398\u2013409","journal-title":"Nat Rev Mol Cell Biol"},{"key":"1763_CR20","doi-asserted-by":"publisher","first-page":"967","DOI":"10.1038\/ncb2795","volume":"15","author":"G Velimezi","year":"2013","unstructured":"Velimezi G, Liontos M, Vougas K, Roumeliotis T, Bartkova J, Sideridou M, Dereli-Oz A, Kocylowski M, Pateras IS, Evangelou K, Kotsinas A, Orsolic I, Bursac S, Cokaric-Brdovcak M, Zoumpourlis V, Kletsas D, Papafotiou G, Klinakis A, Volarevic S, Gu W, Bartek J, Halazonetis TD, Gorgoulis VG (2013) Functional interplay between the DNA-damage-response kinase ATM and ARF tumour suppressor protein in human cancer. Nat Cell Biol 15:967\u2013977","journal-title":"Nat Cell Biol"},{"key":"1763_CR21","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1038\/ejhg.2013.77","volume":"22","author":"J Wiszniewska","year":"2014","unstructured":"Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, Bock HG, Descartes M, Probst FJ, Scaglia F, Beaudet AL, Lupski JR, Eng C, Cheung SW, Bacino C, Patel A (2014) Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet 22:79\u201387","journal-title":"Eur J Hum Genet"},{"key":"1763_CR22","doi-asserted-by":"publisher","first-page":"1870","DOI":"10.1001\/jama.2014.14601","volume":"312","author":"Y Yang","year":"2014","unstructured":"Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM (2014) Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312:1870\u20131879","journal-title":"JAMA"}],"updated-by":[{"DOI":"10.1007\/s00439-017-1828-1","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2017,6,28]],"date-time":"2017-06-28T00:00:00Z","timestamp":1498608000000}}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-017-1763-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-017-1763-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-017-1763-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,16]],"date-time":"2020-05-16T13:59:04Z","timestamp":1589637544000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-017-1763-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,1]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["1763"],"URL":"https:\/\/doi.org\/10.1007\/s00439-017-1763-1","relation":{"correction":[{"id-type":"doi","id":"10.1007\/s00439-017-1828-1","asserted-by":"object"}]},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,1]]},"assertion":[{"value":"11 October 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 February 2017","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 March 2017","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"JRL has stock ownership in 23andMe and Lasergen, is a paid consultant for Regeneron Pharmaceuticals, and is a co-inventor on multiple United States and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, and bacterial genomic fingerprinting. The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from the chromosomal microarray analysis and clinical exome sequencing offered by Baylor Genetics ().","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}