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Timms KM, Bondeson ML, Ansari-Lari MA, Lagerstedt K, Muzny DM, Dugan-Rocha SP, Nelson DL, Pettersson U, Gibbs RA. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet. 1997 ;6(3):479-86.
Noordam R, Bos MM, Wang H, Winkler TW, Bentley AR, Kilpeläinen TO, de Vries PS, Sung YJu, Schwander K, Cade BE, Manning A, Aschard H, Brown MR, Chen H, Franceschini N, Musani SK, Richard M, Vojinovic D, Aslibekyan S, Bartz TM, Fuentes Lde Las, Feitosa M, Horimoto AR, Ilkov M, Kho M, Kraja A, Li C, Lim E, Liu Y, Mook-Kanamori DO, Rankinen T, Tajuddin SM, van der Spek A, Wang Z, Marten J, Laville V, Alver M, Evangelou E, Graff ME, He M, Kühnel B, Lyytikäinen L-P, Marques-Vidal P, Nolte IM, Palmer ND, Rauramaa R, Shu X-O, Snieder H, Weiss S, Wen W, Yanek LR, Adolfo C, Ballantyne C, Bielak L, Biermasz NR, Boerwinkle E, Dimou N, Eiriksdottir G, Gao C, Gharib SA, Gottlieb DJ, Haba-Rubio J, Harris TB, Heikkinen S, Heinzer R, Hixson JE, Homuth G, M Ikram A, Komulainen P, Krieger JE, Lee J, Liu J, Lohman KK, Luik AI, Mägi R, Martin LW, Meitinger T, Metspalu A, Milaneschi Y, Nalls MA, O'Connell J, Peters A, Peyser P, Raitakari OT, Reiner AP, Rensen PCN, Rice TK, Rich SS, Roenneberg T, Rotter JI, Schreiner PJ, Shikany J, Sidney SS, Sims M, Sitlani CM, Sofer T, Strauch K, Swertz MA, Taylor KD, Uitterlinden AG, van Duijn CM, Völzke H, Waldenberger M, Wallance RB, van Dijk KWillems, Yu C, Zonderman AB, Becker DM, Elliott P, Esko T, Gieger C, Grabe HJ, Lakka TA, Lehtimäki T, North KE, Penninx BWJH, Vollenweider P, Wagenknecht LE, Wu T, Xiang Y-B, Zheng W, Arnett DK, Bouchard C, Evans MK, Gudnason V, Kardia S, Kelly TN, Kritchevsky SB, Loos RJF, Pereira AC, Province M, Psaty BM, Rotimi C, Zhu X, Amin N, L Cupples A, Fornage M, Fox EF, Guo X, W Gauderman J, Rice K, Kooperberg C, Munroe PB, Liu C-T, Morrison AC, Rao DC, van Heemst D, Redline S. Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration. Nat Commun. 2019 ;10(1):5121.
Zu Z, Yu Y, Gibbs RA, Caskey CT, Hsie AW. Multiplex DNA amplification and solid-phase direct sequencing for mutation analysis at the hprt locus in Chinese hamster cells. Mutat Res. 1993 ;288(2):237-48.
Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AChun-Hui, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong C-T, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 ;95(5):579-83.
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Kalafus KJ, Jackson AR, Milosavljevic A. Pash: efficient genome-scale sequence anchoring by Positional Hashing. Genome Res. 2004 ;14(4):672-8.
Petty LE, Phillippi-Falkenstein K, H Kubisch M, Raveendran M, Harris RA, Vallender EJ, Huff CD, Bohm RP, Rogers J, Below JE. Pedigree reconstruction and distant pairwise relatedness estimation from genome sequence data: A demonstration in a population of rhesus macaques (Macaca mulatta). Mol Ecol Resour. 2021 ;21(4):1333-1346.
Alkan C, Kidd JM, Marques-Bonet T, Aksay G, Antonacci F, Hormozdiari F, Kitzman JO, Baker C, Malig M, Mutlu O, S Sahinalp C, Gibbs RA, Eichler EE. Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet. 2009 ;41(10):1061-7.
Sedlazeck FJ, Lee H, Darby CA, Schatz MC. Piercing the dark matter: bioinformatics of long-range sequencing and mapping. Nat Rev Genet. 2018 ;19(6):329-346.
Ming R, VanBuren R, Wai CMan, Tang H, Schatz MC, Bowers JE, Lyons E, Wang M-L, Chen J, Biggers E, Zhang J, Huang L, Zhang L, Miao W, Zhang J, Ye Z, Miao C, Lin Z, Wang H, Zhou H, Yim WC, Priest HD, Zheng C, Woodhouse M, Edger PP, Guyot R, Guo H-B, Guo H, Zheng G, Singh R, Sharma A, Min X, Zheng Y, Lee H, Gurtowski J, Sedlazeck FJ, Harkess A, McKain MR, Liao Z, Fang J, Liu J, Zhang X, Zhang Q, Hu W, Qin Y, Wang K, Chen L-Y, Shirley N, Lin Y-R, Liu L-Y, Hernandez AG, Wright CL, Bulone V, Tuskan GA, Heath K, Zee F, Moore PH, Sunkar R, Leebens-Mack JH, Mockler T, Bennetzen JL, Freeling M, Sankoff D, Paterson AH, Zhu X, Yang X, J Smith AC, Cushman JC, Paull RE, Yu Q. The pineapple genome and the evolution of CAM photosynthesis. Nat Genet. 2015 ;47(12):1435-42.
Zhang Z, Futamura M, Vikis HG, Wang M, Li J, Wang Y, Guan K-L, You M. Positional cloning of the major quantitative trait locus underlying lung tumor susceptibility in mice. Proc Natl Acad Sci U S A. 2003 ;100(22):12642-7.
Yu F, Sabeti PC, Hardenbol P, Fu Q, Fry B, Lu X, Ghose S, Vega R, Perez A, Pasternak S, Leal SM, Willis TD, Nelson DL, Belmont J, Gibbs RA. Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet. 2005 ;1(3):e41.
Aitman TJ, Critser JK, Cuppen E, Dominiczak A, Fernandez-Suarez XM, Flint J, Gauguier D, Geurts AM, Gould M, Harris PC, Holmdahl R, Hübner N, Izsvák Z, Jacob HJ, Kuramoto T, Kwitek AE, Marrone A, Mashimo T, Moreno C, Mullins J, Mullins L, Olsson T, Pravenec M, Riley L, Saar K, Serikawa T, Shull JD, Szpirer C, Twigger SN, Voigt B, Worley K. Progress and prospects in rat genetics: a community view. Nat Genet. 2008 ;40(5):516-22.
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Bertin A, Mahaney MC, Cox LA, Rogers J, VandeBerg JL, Brugnara C, Platt OS. Quantitative trait loci for peripheral blood cell counts: a study in baboons. Mamm Genome. 2007 ;18(5):361-72.
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Worley KC, Lindsay EA, Bailey W, Wise J, McCabe ER, Baldini A. Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency. Am J Med Genet. 1995 ;57(4):615-9.
Xue C, Rustagi N, Liu X, Raveendran M, Harris RA, Venkata MGorentla, Rogers J, Yu F. Reduced meiotic recombination in rhesus macaques and the origin of the human recombination landscape. PLoS One. 2020 ;15(8):e0236285.
Mahajan A, Wessel J, Willems SM, Zhao W, Robertson NR, Chu AY, Gan W, Kitajima H, Taliun D, N Rayner W, Guo X, Lu Y, Li M, Jensen RA, Hu Y, Huo S, Lohman KK, Zhang W, Cook JP, Prins BPeter, Flannick J, Grarup N, Trubetskoy VVladimirov, Kravic J, Kim YJin, Rybin DV, Yaghootkar H, Müller-Nurasyid M, Meidtner K, Li-Gao R, Varga TV, Marten J, Li J, Smith AVernon, An P, Ligthart S, Gustafsson S, Malerba G, Demirkan A, Tajes JFernandez, Steinthorsdottir V, Wuttke M, Lecoeur C, Preuss M, Bielak LF, Graff M, Highland HM, Justice AE, Liu DJ, Marouli E, Peloso GMarie, Warren HR, Afaq S, Afzal S, Ahlqvist E, Almgren P, Amin N, Bang LB, Bertoni AG, Bombieri C, Bork-Jensen J, Brandslund I, Brody JA, Burtt NP, Canouil M, Chen Y-DIda, Cho YShin, Christensen C, Eastwood SV, Eckardt K-U, Fischer K, Gambaro G, Giedraitis V, Grove ML, de Haan HG, Hackinger S, Hai Y, Han S, Tybjærg-Hansen A, Hivert M-F, Isomaa B, Jäger S, Jørgensen ME, Jørgensen T, Käräjämäki A, Kim B-J, Kim SSoo, Koistinen HA, Kovacs P, Kriebel J, Kronenberg F, Läll K, Lange LA, Lee J-J, Lehne B, Li H, Lin K-H, Linneberg A, Liu C-T, Liu J, Loh M, Mägi R, Mamakou V, McKean-Cowdin R, Nadkarni G, Neville M, Nielsen SF, Ntalla I, Peyser PA, Rathmann W, Rice K, Rich SS, Rode L, Rolandsson O, Schönherr S, Selvin E, Small KS, Stančáková A, Surendran P, Taylor KD, Teslovich TM, Thorand B, Thorleifsson G, Tin A, Tonjes A, Varbo A, Witte DR, Wood AR, Yajnik P, Yao J, Yengo L, Young R, Amouyel P, Boeing H, Boerwinkle E, Bottinger EP, Chowdhury, iv R, Collins FS, Dedoussis G, Dehghan A, Deloukas P, Ferrario MM, Ferrieres J, Florez JC, Frossard P, Gudnason V, Harris TB, Heckbert SR, Howson JMM, Ingelsson M, Kathiresan S, Kee F, Kuusisto J, Langenberg C, Launer LJ, Lindgren CM, Männistö S, Meitinger T, Melander O, Mohlke KL, Moitry M, Morris AD, Murray AD, de Mutsert R, Orho-Melander M, Owen KR, Perola M, Peters A, Province MA, Rasheed A, Ridker PM, Rivadineira F, Rosendaal FR, Rosengren AH, Salomaa V, Sheu WH-H, Sladek R, Smith BH, Strauch K, Uitterlinden AG, Varma R, Willer CJ, Blüher M, Butterworth AS, Chambers JCampbell, Chasman DI, Danesh J, van Duijn C, Dupuis J, Franco OH, Franks PW, Froguel P, Grallert H, Groop L, Han B-G, Hansen T, Hattersley AT, Hayward C, Ingelsson E, Kardia SLR, Karpe F, Kooner JSingh, Köttgen A, Kuulasmaa K, Laakso M, Lin X, Lind L, Liu Y, Loos RJF, Marchini J, Metspalu A, Mook-Kanamori D, Nordestgaard BG, Palmer CNA, Pankow JS, Pedersen O, Psaty BM, Rauramaa R, Sattar N, Schulze MB, Soranzo N, Spector TD, Stefansson K, Stumvoll M, Thorsteinsdottir U, Tuomi T, Tuomilehto J, Wareham NJ, Wilson JG, Zeggini E, Scott RA, Barroso I, Frayling TM, Goodarzi MO, Meigs JB, Boehnke M, Saleheen D, Morris AP, Rotter JI, McCarthy MI. Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. Nat Genet. 2018 ;50(4):559-571.
Morrison AC, Boerwinkle E, Turner ST, Ferrell RE. Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10. Am J Hypertens. 2008 ;21(1):117-21.
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Sucgang R, Chen G, Liu W, Lindsay R, Lu J, Muzny DM, Shaulsky G, Loomis W, Gibbs RA, Kuspa A. Sequence and structure of the extrachromosomal palindrome encoding the ribosomal RNA genes in Dictyostelium. Nucleic Acids Res. 2003 ;31(9):2361-8.
Hampton OA, Hollander PDen, Miller CA, Delgado DA, Li J, Coarfa C, Harris RA, Richards S, Scherer SE, Muzny DM, Gibbs RA, Lee AV, Milosavljevic A. A sequence-level map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer genome. Genome Res. 2009 ;19(2):167-77.
Friedman JM, Bombard Y, Carleton B, Issa AM, Knoppers B, Plon SE, Rahimzadeh V, Relling MV, Williams MS, van Karnebeek C, Vears D, Cornel MC. Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?. Genet Med. 2024 ;26(2):101033.
Lemon WJ, Swinton CH, Wang M, Berbari N, Wang Y, You M. Single nucleotide polymorphism (SNP) analysis of mouse pulmonary adenoma susceptibility loci 1-4 for identification of candidate genes. J Med Genet. 2003 ;40(4):e36.
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Majewski T, Lee S, Jeong J, Yoon D-S, Kram A, Kim M-S, Tuziak T, Bondaruk J, Lee S, Park W-S, Tang KS, Chung W, Shen L, Ahmed SS, Johnston DA, H Grossman B, Dinney CP, Zhou J-H, Harris RA, Snyder C, Filipek S, Narod SA, Watson P, Lynch HT, Gazdar A, Bar-Eli M, Wu XF, McConkey DJ, Baggerly K, Issa J-P, Benedict WF, Scherer SE, Czerniak B. Understanding the development of human bladder cancer by using a whole-organ genomic mapping strategy. Lab Invest. 2008 ;88(7):694-721.
Tellam RL, Lemay DG, Van Tassell CP, Lewin HA, Worley KC, Elsik CG. Unlocking the bovine genome. BMC Genomics. 2009 ;10:193.
Yang L, Wei Z, Chen X, Hu L, Peng X, Wang J, Lu C, Kong Y, Dong X, Ni Q, Lu Y, Wu B, Wang H, Meirelles K, Tian X, Zhang J, Chang F, Liu L, Li C, You W, Cheng G, Wang L, Cao Y, Chen C, Fang P, Tang S, Zhou W. Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China. Clin Genet. 2022 ;101(1):101-109.
Muzny DM, Metzker ML, Bouck J, Gorrell JH, Ding Y, Maxim E, Gibbs RA. Using BODIPY dye-primer chemistry in large-scale sequencing. IEEE Eng Med Biol Mag. 1998 ;17(6):88-93.