{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T23:17:18Z","timestamp":1771456638108,"version":"3.50.1"},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2009,6,26]],"date-time":"2009-06-26T00:00:00Z","timestamp":1245974400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2009,10]]},"DOI":"10.1007\/s00439-009-0706-x","type":"journal-article","created":{"date-parts":[[2009,6,25]],"date-time":"2009-06-25T02:11:31Z","timestamp":1245895891000},"page":"589-602","source":"Crossref","is-referenced-by-count":64,"title":["Redefined genomic architecture in 15q24 directed by patient deletion\/duplication breakpoint mapping"],"prefix":"10.1007","volume":"126","author":[{"given":"Ayman W.","family":"El-Hattab","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa A.","family":"Smolarek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martha E.","family":"Walker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth K.","family":"Schorry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"LaDonna L.","family":"Immken","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gayle","family":"Patel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary-Alice","family":"Abbott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brendan C.","family":"Lanpher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhishuo","family":"Ou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sung-Hae L.","family":"Kang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ankita","family":"Patel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Scaglia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sau Wai","family":"Cheung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pawel","family":"Stankiewicz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2009,6,26]]},"reference":[{"key":"706_CR1","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1159\/000133318","volume":"60","author":"E Armstrong","year":"1993","unstructured":"Armstrong E, Cannizzaro L, Bergman M, Huebner K, Alitalo K (1993) The c-src tyrosine kinase (CSK) gene, a potential antioncogene, localizes to human chromosome region 15q23\u2013q25. Cytogenet Cell Genet 60:119\u2013120","journal-title":"Cytogenet Cell Genet"},{"key":"706_CR2","doi-asserted-by":"crossref","unstructured":"Ben-Shachar S, Lanpher B, German JR, Potocki L, Sreenath Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung S-W, Lupski JR, Beaudet AL, Sahoo T (2009) Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet 46:382\u2013388","DOI":"10.1136\/jmg.2008.064378"},{"key":"706_CR3","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1111\/j.1399-0004.1998.tb02706.x","volume":"53","author":"D Bettelheim","year":"1998","unstructured":"Bettelheim D, Hengstaschlager M, Drhonsky R, Eppel W, Bernaschek G (1998) Two cases of prenatally diagnosed diaphragmatic hernia accompanied by the same undescribed chromosomal deletion (15q24 de novo). Clin Genet 53:319\u2013320","journal-title":"Clin Genet"},{"key":"706_CR4","doi-asserted-by":"crossref","first-page":"1302","DOI":"10.1086\/379979","volume":"73","author":"W Bi","year":"2003","unstructured":"Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR (2003) Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet 73:1302\u20131315","journal-title":"Am J Hum Genet"},{"key":"706_CR5","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/ng.302","volume":"41","author":"W Bi","year":"2009","unstructured":"Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O (2009) Increased LIS1 expression affects human and mouse brain development. Nat Genet 41:168\u2013177","journal-title":"Nat Genet"},{"key":"706_CR6","doi-asserted-by":"crossref","first-page":"1702","DOI":"10.1086\/302410","volume":"64","author":"C Brewer","year":"1999","unstructured":"Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D (1999) A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality\u2014and tolerance of segmental aneuploidy\u2014in humans. Am J Hum Genet 64:1702\u20131708","journal-title":"Am J Hum Genet"},{"key":"706_CR7","doi-asserted-by":"crossref","first-page":"E10","DOI":"10.1136\/jmg.37.8.e10","volume":"37","author":"CE Browne","year":"2000","unstructured":"Browne CE, Hatchwell E, Protopapas A, Ramos J (2000) Duplication of medial 15q confirmed by FISH. J Med Genet 37:E10","journal-title":"J Med Genet"},{"key":"706_CR8","doi-asserted-by":"crossref","first-page":"2188","DOI":"10.1093\/hmg\/ddp151","volume":"18","author":"CM Carvalho","year":"2009","unstructured":"Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR (2009) Complex rearrangements in patients with duplications of MECP2 can occur by Fork stalling and template switching. Hum Mol Genet 18:2188\u20132203","journal-title":"Hum Mol Genet"},{"key":"706_CR9","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1097\/01.GIM.0000170992.63691.32","volume":"7","author":"SW Cheung","year":"2005","unstructured":"Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL (2005) Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med 7:422\u2013432","journal-title":"Genet Med"},{"key":"706_CR10","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1002\/ajmg.1320190409","volume":"19","author":"RD Clark","year":"1984","unstructured":"Clark RD (1984) Letter to the editor: del(15)(q22q24) syndrome with Potter sequence. Am J Med Genet 19:703\u2013705","journal-title":"Am J Med Genet"},{"key":"706_CR11","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1002\/ajmg.a.30836","volume":"137","author":"LJ Cushman","year":"2005","unstructured":"Cushman LJ, Torres-Martinez W, Cherry AM, Manning MA, Abdul-Rahman O, Anderson CE, Punnett HH, Thurston VC, Sweeney D, Vance GH (2005) A report of three patients with an interstitial deletion of chromosome 15q24. Am J Med Genet 137:65\u201371","journal-title":"Am J Med Genet"},{"key":"706_CR12","unstructured":"Dhaliwal MK, Menos D, Checkley P, Lieber E (1990) A case of an unbalanced interstitial translocation involving chromosome 4p and 15q in a newborn with multiple congenital anomalies. Am J Hum Genet 47(Suppl):A28"},{"key":"706_CR13","doi-asserted-by":"crossref","first-page":"3456","DOI":"10.1128\/MCB.23.10.3456-3467.2003","volume":"23","author":"TC Fleischer","year":"2003","unstructured":"Fleischer TC, Yun UJ, Ayer DE (2003) Identification and characterization of three new components of the mSin3A corepressor complex. Mol Cell Biol 23:3456\u20133467","journal-title":"Mol Cell Biol"},{"key":"706_CR14","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1007\/BF00273663","volume":"80","author":"LF Formiga","year":"1988","unstructured":"Formiga LF, Poenaru L, Couronne F, Flori E, Eibel JL, Deminatti MM, Savary JB, Lai JL, Gilgenkrantz S, Pierson M (1988) Interstitial deletion of chromosome15: two cases. Hum Genet 80:401\u2013404","journal-title":"Hum Genet"},{"key":"706_CR15","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1755-8417-1-4","volume":"1","author":"W Gu","year":"2008","unstructured":"Gu W, Zhang F, Lupski JR (2008) Mechanisms for human genomic rearrangements. Pathogenetics 1:4","journal-title":"Pathogenetics"},{"key":"706_CR16","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/(SICI)1096-8628(19991222)87:5<395::AID-AJMG5>3.0.CO;2-H","volume":"87","author":"JY Han","year":"1999","unstructured":"Han JY, Kim KH, Lee HD, Moon SY, Shaffer LG (1999) De novo direct duplication of 15q15\u00a0\u2192\u00a0q24 in a newborn boy with mild manifestations. Am J Med Genet 87:395\u2013398","journal-title":"Am J Med Genet"},{"key":"706_CR17","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1016\/j.ejmg.2008.07.008","volume":"51","author":"AB Kiholm Lund","year":"2008","unstructured":"Kiholm Lund AB, Hove HD, Kirchhoff M (2008) A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. Eur J Med Genet 51:520\u2013526","journal-title":"Eur J Med Genet"},{"key":"706_CR18","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/j.ejmg.2007.05.001","volume":"50","author":"M Kirchhoff","year":"2007","unstructured":"Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M (2007) A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features. Eur J Med Genet 50:256\u2013263","journal-title":"Eur J Med Genet"},{"key":"706_CR19","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1007\/s00431-007-0616-7","volume":"167","author":"E Klopocki","year":"2008","unstructured":"Klopocki E, Graul-Neumann LM, Grieben U, T\u00f6nnies H, Ropers HH, Horn D, Mundlos S, Ullmann R (2008) A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. Eur J Pediatr 167:903\u2013908","journal-title":"Eur J Pediatr"},{"key":"706_CR20","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1038\/ng1853","volume":"38","author":"DA Koolen","year":"2006","unstructured":"Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB (2006) A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 38:999\u20131001","journal-title":"Nat Genet"},{"key":"706_CR21","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1016\/j.cell.2007.11.037","volume":"28","author":"JA Lee","year":"2007","unstructured":"Lee JA, Carvalho CM, Lupski JR (2007) A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 28:1235\u20131247","journal-title":"Cell"},{"key":"706_CR42","unstructured":"Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P (2009) Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet (in press)"},{"key":"706_CR22","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1172\/JCI2350","volume":"101","author":"R Niehues","year":"1998","unstructured":"Niehues R, Hasilik M, Alton G, K\u00f6rner C, Schiebe-Sukumar M, Koch HG, Zimmer KP, Wu R, Harms E, Reiter K, von Figura K, Freeze HH, Harms HK, Marquardt T (1998) Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy. J Clin Invest 101:1414\u20131420","journal-title":"J Clin Invest"},{"key":"706_CR23","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1097\/GIM.0b013e31816b4420","volume":"10","author":"Z Ou","year":"2008","unstructured":"Ou Z, Kang SH, Shaw CA, Carmack CE, White LD, Patel A, Beaudet AL, Cheung SW, Chinault AC (2008) Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med 10:278\u2013289","journal-title":"Genet Med"},{"key":"706_CR24","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/nature01790","volume":"424","author":"RJ Pasterkamp","year":"2007","unstructured":"Pasterkamp RJ, Peschon JJ, Spriggs MK, Kolodkin AL (2007) Semaphorin 7A promotes axon outgrowth through integrins and MAPKs. Nature 424:398\u2013405","journal-title":"Nature"},{"key":"706_CR25","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1086\/512203","volume":"80","author":"F Pasutto","year":"2007","unstructured":"Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, N\u00fcrnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fern\u00e1ndez-Mart\u00ednez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, N\u00fcrnberg P, Reis A, Rauch A (2007) Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet 80:550\u2013560","journal-title":"Am J Hum Genet"},{"key":"706_CR26","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1086\/512864","volume":"80","author":"L Potocki","year":"2007","unstructured":"Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR (2007) Characterization of Potocki\u2013Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80:633\u2013649","journal-title":"Am J Hum Genet"},{"key":"706_CR27","doi-asserted-by":"crossref","first-page":"1358","DOI":"10.1002\/ajmg.a.31781","volume":"143A","author":"FJ Probst","year":"2007","unstructured":"Probst FJ, Roeder ER, Enciso VB, Ou Z, Cooper ML, Eng P, Li J, Gu Y, Stratton RF, Chinault AC, Shaw CA, Sutton VR, Cheung SW, Nelson DL (2007) Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet 143A:1358\u20131365","journal-title":"Am J Med Genet"},{"key":"706_CR28","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1083\/jcb.200502115","volume":"69","author":"K Reim","year":"2005","unstructured":"Reim K, Wegmeyer H, Brandstatter JH, Xue M, Rosenmund C, Drebach T, Hofmann K, Brose N (2005) Structurally and functionally unique complexins at retinal ribbon synapses. J Cell Biol 69:669\u2013680","journal-title":"J Cell Biol"},{"key":"706_CR29","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1002\/ajmg.a.20617","volume":"126A","author":"JA Roggenbuck","year":"2004","unstructured":"Roggenbuck JA, Mendelsohn NJ, Tenenholz B, Ladda RL, Fink JM (2004) Duplication of the distal long arm of chromosome 15: report of three new patients and review of the literature. Am J Med Genet 126A:398\u2013402","journal-title":"Am J Med Genet"},{"key":"706_CR30","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1038\/ng1862","volume":"38","author":"AJ Sharp","year":"2006","unstructured":"Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE (2006) Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 38:1038\u20131042","journal-title":"Nat Genet"},{"key":"706_CR31","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1093\/hmg\/ddm016","volume":"16","author":"AJ Sharp","year":"2007","unstructured":"Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, Zuffardi O, Eichler EE (2007) Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet 16:567\u2013572","journal-title":"Hum Mol Genet"},{"key":"706_CR32","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1038\/ng.93","volume":"40","author":"AJ Sharp","year":"2008","unstructured":"Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE (2008) A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 40:322\u2013328","journal-title":"Nat Genet"},{"key":"706_CR33","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1038\/ng1858","volume":"38","author":"C Shaw-Smith","year":"2006","unstructured":"Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP (2006) Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet 38:1032\u20131037","journal-title":"Nat Genet"},{"key":"706_CR34","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1755-8166-1-16","volume":"1","author":"OA Shchelochkov","year":"2008","unstructured":"Shchelochkov OA, Cooper ML, Ou Z, Peacock S, Yatsenko SA, Brown CW, Fang P, Stankiewicz P, Cheung SW (2008) Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement. Mol Cytogenet 1:16","journal-title":"Mol Cytogenet"},{"key":"706_CR35","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-008-0513-9","volume":"124","author":"AM Slavotinek","year":"2008","unstructured":"Slavotinek AM (2008) Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet 124:1\u201317","journal-title":"Hum Genet"},{"key":"706_CR36","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1002\/ajmg.a.30185","volume":"129A","author":"L Spruijt","year":"2004","unstructured":"Spruijt L, Engelen JJM, Bruinen-Smeijsters LP, Albrechts JCM, Schrander J, Schrander-Stumpel CTRM (2004) A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism and very blue irises. Am J Med Genet 129A:312\u2013315","journal-title":"Am J Med Genet"},{"key":"706_CR37","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1016\/j.gde.2007.04.009","volume":"17","author":"P Stankiewicz","year":"2007","unstructured":"Stankiewicz P, Beaudet AL (2007) Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 17:182\u2013192","journal-title":"Curr Opin Genet Dev"},{"key":"706_CR38","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/S0168-9525(02)02592-1","volume":"18","author":"P Stankiewicz","year":"2002","unstructured":"Stankiewicz P, Lupski JR (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74\u201382","journal-title":"Trends Genet"},{"key":"706_CR39","doi-asserted-by":"crossref","first-page":"3820","DOI":"10.1210\/jcem.86.8.7748","volume":"86","author":"T Tajima","year":"2001","unstructured":"Tajima T, Fujieda K, Kouda N, Nakae J, Miller WL (2001) Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46, XY sex reversal and adrenal insufficiency. J Clin Endocr Metab 86:3820\u20133825","journal-title":"J Clin Endocr Metab"},{"key":"706_CR40","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ejmg.2009.02.003","volume":"52","author":"H Esch Van","year":"2009","unstructured":"Van Esch H, Backx L, Pijkels E, Fryns JP (2009) Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. Eur J Med Genet 52:153\u2013156","journal-title":"Eur J Med Genet"},{"key":"706_CR41","doi-asserted-by":"crossref","unstructured":"Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR (2009) The DNA replication FoSTeS\/MMBIR mechanism can generate human genomic, genic, and exonic complex rearrangements. Nat Genet (in press)","DOI":"10.1038\/ng.399"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-009-0706-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-009-0706-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-009-0706-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T19:26:04Z","timestamp":1559071564000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-009-0706-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,6,26]]},"references-count":42,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,10]]}},"alternative-id":["706"],"URL":"https:\/\/doi.org\/10.1007\/s00439-009-0706-x","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,6,26]]}}}