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Alioto TS, Buchhalter I, Derdak S, Hutter B, Eldridge MD, Hovig E, Heisler LE, Beck TA, Simpson JT, Tonon L, Sertier A-S, Patch A-M, Jäger N, Ginsbach P, Drews R, Paramasivam N, Kabbe R, Chotewutmontri S, Diessl N, Previti C, Schmidt S, Brors B, Feuerbach L, Heinold M, Gröbner S, Korshunov A, Tarpey PS, Butler AP, Hinton J, Jones D, Menzies A, Raine K, Shepherd R, Stebbings L, Teague JW, Ribeca P, Giner FCastro, Beltran S, Raineri E, Dabad M, Heath SC, Gut M, Denroche RE, Harding NJ, Yamaguchi TN, Fujimoto A, Nakagawa H, Quesada V, Valdés-Mas R, Nakken S, Vodák D, Bower L, Lynch AG, Anderson CL, Waddell N, Pearson JV, Grimmond SM, Peto M, Spellman P, He M, Kandoth C, Lee S, Zhang J, Létourneau L, Ma S, Seth S, Torrents D, Xi L, Wheeler DA, López-Otín C, Campo E, Campbell PJ, Boutros PC, Puente XS, Gerhard DS, Pfister SM, McPherson JD, Hudson TJ, Schlesner M, Lichter P, Eils R, Jones DTW, Gut IG. A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing. Nat Commun. 2015 ;6:10001.
Bailey MH, Tokheim C, Porta-Pardo E, Sengupta S, Bertrand D, Weerasinghe A, Colaprico A, Wendl MC, Kim J, Reardon B, Ng PKwok-Shing, Jeong KJin, Cao S, Wang Z, Gao J, Gao Q, Wang F, Liu EMinwei, Mularoni L, Rubio-Perez C, Nagarajan N, Cortés-Ciriano I, Zhou DCui, Liang W-W, Hess JM, Yellapantula VD, Tamborero D, Gonzalez-Perez A, Suphavilai C, Ko JYu, Khurana E, Park PJ, Van Allen EM, Liang H, Lawrence MS, Godzik A, Lopez-Bigas N, Stuart J, Wheeler D, Getz G, Chen K, Lazar AJ, Mills GB, Karchin R, Ding L. Comprehensive Characterization of Cancer Driver Genes and Mutations. Cell. 2018 ;173(2):371-385.e18.
Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature. 2008 ;455(7216):1061-8.
Comprehensive genomic characterization of head and neck squamous cell carcinomas. Nature. 2015 ;517(7536):576-82.
Moss TJ, Qi Y, Xi L, Peng B, Kim T-B, Ezzedine NE, Mosqueda ME, Guo CC, Czerniak BA, Ittmann M, Wheeler DA, Lerner SP, Matin SF. Comprehensive Genomic Characterization of Upper Tract Urothelial Carcinoma. Eur Urol. 2017 ;72(4):641-649.
Comprehensive molecular characterization of clear cell renal cell carcinoma. Nature. 2013 ;499(7456):43-9.
Comprehensive molecular characterization of human colon and rectal cancer. Nature. 2012 ;487(7407):330-7.
Wang X, Wang H, Sun V, Tuan H-F, Keser V, Wang K, Ren H, Lopez I, Zaneveld JE, Siddiqui S, Bowles S, Khan A, Salvo J, Jacobson SG, Iannaccone A, Wang F, Birch D, Heckenlively JR, Fishman GA, Traboulsi EI, Li Y, Wheaton D, Koenekoop RK, Chen R. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. J Med Genet. 2013 ;50(10):674-88.
Jiang L, Liang X, Li Y, Wang J, Zaneveld JEric, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R. Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet J Rare Dis. 2015 ;10:110.
Wang H, Wang X, Zou X, Xu S, Li H, Soens ZTore, Wang K, Li Y, Dong F, Chen R, Sui R. Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. Invest Ophthalmol Vis Sci. 2015 ;56(6):3642-55.
Berger AC, Korkut A, Kanchi RS, Hegde AM, Lenoir W, Liu W, Liu Y, Fan H, Shen H, Ravikumar V, Rao A, Schultz A, Li X, Sumazin P, Williams C, Mestdagh P, Gunaratne PH, Yau C, Bowlby R, A Robertson G, Tiezzi DG, Wang C, Cherniack AD, Godwin AK, Kuderer NM, Rader JS, Zuna RE, Sood AK, Lazar AJ, Ojesina AI, Adebamowo C, Adebamowo SN, Baggerly KA, Chen T-W, Chiu H-S, Lefever S, Liu L, MacKenzie K, Orsulic S, Roszik J, Shelley CSimon, Song Q, Vellano CP, Wentzensen N, Weinstein JN, Mills GB, Levine DA, Akbani R. A Comprehensive Pan-Cancer Molecular Study of Gynecologic and Breast Cancers. Cancer Cell. 2018 ;33(4):690-705.e9.
Zheng S, Cherniack AD, Dewal N, Moffitt RA, Danilova L, Murray BA, Lerario AM, Else T, Knijnenburg TA, Ciriello G, Kim S, Assie G, Morozova O, Akbani R, Shih J, Hoadley KA, Choueiri TK, Waldmann J, Mete O, A Robertson G, Wu H-T, Raphael BJ, Shao L, Meyerson M, Demeure MJ, Beuschlein F, Gill AJ, Sidhu SB, Almeida MQ, Fragoso MCBV, Cope LM, Kebebew E, Habra MA, Whitsett TG, Bussey KJ, Rainey WE, Asa SL, Bertherat J, Fassnacht M, Wheeler DA, Hammer GD, Giordano TJ, Verhaak RGW. Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma. Cancer Cell. 2016 ;29(5):723-736.
Lindstrand A, Frangakis S, Carvalho CMB, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RAlan, Banin E, Lupski JR, Davis EE, Katsanis N. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016 ;99(2):318-36.
Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier ABelinda, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A. 2017 ;173(3):733-739.
Polfus LM, Gibbs RA, Boerwinkle E. Coronary heart disease and genetic variants with low phospholipase A2 activity. N Engl J Med. 2015 ;372(3):295-6.
Gong B, Li D, Kusko R, Novoradovskaya N, Zhang Y, Wang S, Pabón-Peña C, Zhang Z, Lai K, Cai W, LoCoco JS, Lader E, Richmond TA, Mittal VK, Liu L-C, Johann DJ, Willey JC, Bushel PR, Yu Y, Xu C, Chen G, Burgess D, Cawley S, Giorda K, Haseley N, Qiu F, Wilkins K, Arib H, Attwooll C, Babson K, Bao L, Bao W, Lucas ABergstrom, Best H, Bhandari A, Bisgin H, Blackburn J, Blomquist TM, Boardman L, Burgher B, Butler DJ, Chang C-J, Chaubey A, Chen T, Chierici M, Chin CR, Close D, Conroy J, Coleman JCooley, Craig DJ, Crawford E, Del Pozo A, Deveson IW, Duncan D, Eterovic AKarina, Fan X, Foox J, Furlanello C, Ghosal A, Glenn S, Guan M, Haag C, Hang X, Happe S, Hennigan B, Hipp J, Hong H, Horvath K, Hu J, Hung L-Y, Jarosz M, Kerkhof J, Kipp B, Kreil DPhilip, Łabaj P, Lapunzina P, Li P, Li Q-Z, Li W, Li Z, Liang Y, Liu S, Liu Z, Ma C, Marella N, Martín-Arenas R, Megherbi DB, Meng Q, Mieczkowski PA, Morrison T, Muzny DM, Ning B, Parsons BL, Paweletz CP, Pirooznia M, Qu W, Raymond A, Rindler P, Ringler R, Sadikovic B, Scherer A, Schulze E, Sebra R, Shaknovich R, Shi Q, Shi T, Silla-Castro JCarlos, Smith M, López MSolís, Song P, Stetson D, Strahl M, Stuart A, Supplee J, Szankasi P, Tan H, Tang L-Y, Tao Y, Thakkar S, Thierry-Mieg D, Thierry-Mieg J, Thodima VJ, Thomas D, Tichý B, Tom N, Garcia EVallespin, Verma S, Walker K, Wang C, Wang J, Wang Y, Wen Z, Wirta V, Wu L, Xiao C, Xiao W, Xu S, Yang M, Ying J, Yip SH, Zhang G, Zhang S, Zhao M, Zheng Y, Zhou X, Mason CE, Mercer T, Tong W, Shi L, Jones W, Xu J. Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions. Genome Biol. 2021 ;22(1):109.
D
Burrage LC, Charng W-L, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LELM, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EMHF, Yang Y. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 ;97(6):904-13.
Wang RJ, Raveendran M, Harris RA, Murphy WJ, Lyons LA, Rogers J, Hahn MW. De novo Mutations in Domestic Cat are Consistent with an Effect of Reproductive Longevity on Both the Rate and Spectrum of Mutations. Mol Biol Evol. 2022 ;39(7).
Xia F, Bainbridge MN, Tan TYang, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, V Sutton R, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 ;94(5):784-9.
Hong YSoo, Battle SL, Shi W, Puiu D, Pillalamarri V, Xie J, Pankratz N, Lake NJ, Lek M, Rotter JI, Rich SS, Kooperberg C, Reiner AP, Auer PL, Heard-Costa N, Liu C, Lai M, Murabito JM, Levy D, Grove ML, Alonso A, Gibbs RA, Dugan-Perez S, Gondek LP, Guallar E, Arking DE. Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality. Nat Commun. 2023 ;14(1):6113.
Fasham J, Arno G, Lin S, Xu M, Carss KJ, Hull S, Lane A, Robson AG, Wenger O, Self JE, Harlalka GV, Salter CG, Schema L, Moss TJ, Cheetham ME, Moore AT, F Raymond L, Chen R, Baple EL, Webster AR, Crosby AH. Delineating the expanding phenotype associated with SCAPER gene mutation. Am J Med Genet A. 2019 ;179(8):1665-1671.
Gibbs RA, Nguyen PN, Caskey CT. Detection of single DNA base differences by competitive oligonucleotide priming. Nucleic Acids Res. 1989 ;17(7):2437-48.
Caskey CT, Gibbs RA, Witkowski JA, Hejtmancik JF. Diagnosis of human heritable defects by recombinant DNA methods. Philos Trans R Soc Lond B Biol Sci. 1988 ;319(1194):353-60.
Surendran P, Feofanova EV, Lahrouchi N, Ntalla I, Karthikeyan S, Cook J, Chen L, Mifsud B, Yao C, Kraja AT, Cartwright JH, Hellwege JN, Giri A, Tragante V, Thorleifsson G, Liu DJ, Prins BP, Stewart ID, Cabrera CP, Eales JM, Akbarov A, Auer PL, Bielak LF, Bis JC, Braithwaite VS, Brody JA, E Daw W, Warren HR, Drenos F, Nielsen SFallgaard, Faul JD, Fauman EB, Fava C, Ferreira T, Foley CN, Franceschini N, Gao H, Giannakopoulou O, Giulianini F, Gudbjartsson DF, Guo X, Harris SE, Havulinna AS, Helgadottir A, Huffman JE, Hwang S-J, Kanoni S, Kontto J, Larson MG, Li-Gao R, Lindström J, Lotta LA, Lu Y, Luan J'an, Mahajan A, Malerba G, Masca NGD, Mei H, Menni C, Mook-Kanamori DO, Mosen-Ansorena D, Müller-Nurasyid M, Paré G, Paul DS, Perola M, Poveda A, Rauramaa R, Richard M, Richardson TG, Sepúlveda N, Sim X, Smith AV, Smith JA, Staley JR, Stanáková A, Sulem P, Thériault S, Thorsteinsdottir U, Trompet S, Varga TV, Edwards DRVelez, Veronesi G, Weiss S, Willems SM, Yao J, Young R, Yu B, Zhang W, Zhao J-H, Zhao W, Zhao W, Evangelou E, Aeschbacher S, Asllanaj E, Blankenberg S, Bonnycastle LL, Bork-Jensen J, Brandslund I, Braund PS, Burgess S, Cho K, Christensen C, Connell J, de Mutsert R, Dominiczak AF, Dörr M, Eiriksdottir G, Farmaki A-E, J Gaziano M, Grarup N, Grove ML, Hallmans G, Hansen T, Have CT, Heiss G, Jørgensen ME, Jousilahti P, Kajantie E, Kamat M, Käräjämäki A, Karpe F, Koistinen HA, Kovesdy CP, Kuulasmaa K, Laatikainen T, Lannfelt L, Lee I-T, Lee W-J, Linneberg A, Martin LW, Moitry M, Nadkarni G, Neville MJ, Palmer CNA, Papanicolaou GJ, Pedersen O, Peters J, Poulter N, Rasheed A, Rasmussen KL, N Rayner W, Mägi R, Renstrom F, Rettig R, Rossouw J, Schreiner PJ, Sever PS, Sigurdsson EL, Skaaby T, Sun YV, Sundström J, Thorgeirsson G, Esko T, Trabetti E, Tsao PS, Tuomi T, Turner ST, Tzoulaki I, Vaartjes I, Vergnaud A-C, Willer CJ, Wilson PWF, Witte DR, Yonova-Doing E, Zhang H, Aliya N, Almgren P, Amouyel P, Asselbergs FW, Barnes MR, Blakemore AI, Boehnke M, Bots ML, Bottinger EP, Buring JE, Chambers JC, Chen Y-DIda, Chowdhury, iv R, Conen D, Correa A, Smith GDavey, de Boer RA, Deary IJ, Dedoussis G, Deloukas P, Di Angelantonio E, Elliott P, Felix SB, Ferrieres J, Ford I, Fornage M, Franks PW, Franks S, Frossard P, Gambaro G, Gaunt TR, Groop L, Gudnason V, Harris TB, Hayward C, Hennig BJ, Herzig K-H, Ingelsson E, Tuomilehto J, Jarvelin M-R, J Jukema W, Kardia SLR, Kee F, Kooner JS, Kooperberg C, Launer LJ, Lind L, Loos RJF, Majumder AAl Shafi, Laakso M, McCarthy MI, Melander O, Mohlke KL, Murray AD, Nordestgaard BGrønne, Orho-Melander M, Packard CJ, Padmanabhan S, Palmas W, Polasek O, Porteous DJ, Prentice AM, Province MA, Relton CL, Rice K, Ridker PM, Rolandsson O, Rosendaal FR, Rotter JI, Rudan I, Salomaa V, Samani NJ, Sattar N, Sheu WH-H, Smith BH, Soranzo N, Spector TD, Starr JM, Sebert S, Taylor KD, Lakka TA, Timpson NJ, Tobin MD, van der Harst P, van der Meer P, Ramachandran VS, Verweij N, Virtamo J, Völker U, Weir DR, Zeggini E, Charchar FJ, Wareham NJ, Langenberg C, Tomaszewski M, Butterworth AS, Caulfield MJ, Danesh J, Edwards TL, Holm H, Hung AM, Lindgren CM, Liu C, Manning AK, Morris AP, Morrison AC, O'Donnell CJ, Psaty BM, Saleheen D, Stefansson K, Boerwinkle E, Chasman DI, Levy D, Newton-Cheh C, Munroe PB, Howson JMM. Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals. Nat Genet. 2020 ;52(12):1314-1332.
Sano D, Xie T-X, Ow TJ, Zhao M, Pickering CR, Zhou G, Sandulache VC, Wheeler DA, Gibbs RA, Caulin C, Myers JN. Disruptive TP53 mutation is associated with aggressive disease characteristics in an orthotopic murine model of oral tongue cancer. Clin Cancer Res. 2011 ;17(21):6658-70.