Publications | BCM-HGSC

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2023

Sørensen EF, Harris RA, Zhang L, Raveendran M, Kuderna LFK, Walker JA, Storer JM, Kuhlwilm M, Fontsere C, Seshadri L, Bergey CM, Burrell AS, Bergman J, Phillips-Conroy JE, Shiferaw F, Chiou KL, Chuma IS, Keyyu JD, Fischer J, Gingras M-C, Salvi S, Doddapaneni H, Schierup MH, Batzer MA, Jolly CJ, Knauf S, Zinner D, Farh KK-H, Marques-Bonet T, Munch K, Roos C, Rogers J. Genome-wide coancestry reveals details of ancient and recent male-driven reticulation in baboons. Science. 2023 ;380(6648):eabn8153.

2016

Szafranski P, Coban-Akdemir ZH, Rupps R, Grazioli S, Wensley D, Jhangiani SN, Popek E, Lee AF, Lupski JR, Boerkoel CF, Stankiewicz P. Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. Am J Med Genet A. 2016 ;170(9):2440-4.

Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KCaner, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BHon-Yin, Wong W-L, Chu YWing Yiu, Mok GTsz Kin, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, M Iqbal A, McKinnon ML, Hamilton SJane, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn ROkashah, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 ;135(5):569-586.

2011

Szabó CA, Kochunov P, Knape KD, McCoy KJM, Leland MM, Lancaster JL, Fox PT, Williams JT, Rogers J. Cortical sulcal areas in baboons (Papio hamadryas spp.) with generalized interictal epileptic discharges on scalp EEG. Epilepsy Res. 2011 ;93(2-3):91-5.

2010

Syed K, Doddapaneni H, Subramanian V, Lam YWai, Yadav JS. Genome-to-function characterization of novel fungal P450 monooxygenases oxidizing polycyclic aromatic hydrocarbons (PAHs). Biochem Biophys Res Commun. 2010 ;399(4):492-7.

2021

Swierkowska J, Karolak JA, Gambin T, Rydzanicz M, Frajdenberg A, Mrugacz M, Podfigurna-Musielak M, Stankiewicz P, Lupski JR, Gajecka M. Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe. Adv Med Sci. 2021 ;66(1):192-198.

2020

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.

2021

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. Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals. Nat Genet. 2021 ;53(5):762.

2019

Sung YJu, Fuentes Lde Las, Winkler TW, Chasman DI, Bentley AR, Kraja AT, Ntalla I, Warren HR, Guo X, Schwander K, Manning AK, Brown MR, Aschard H, Feitosa MF, Franceschini N, Lu Y, Cheng C-Y, Sim X, Vojinovic D, Marten J, Musani SK, Kilpeläinen TO, Richard MA, Aslibekyan S, Bartz TM, Dorajoo R, Li C, Liu Y, Rankinen T, Smith AVernon, Tajuddin SM, Tayo BO, Zhao W, Zhou Y, Matoba N, Sofer T, Alver M, Amini M, Boissel M, Chai JFang, Chen X, Divers J, Gandin I, Gao C, Giulianini F, Goel A, Harris SE, Hartwig FP, He M, Horimoto ARVR, Hsu F-C, Jackson AU, Kammerer CM, Kasturiratne A, Komulainen P, Kühnel B, Leander K, Lee W-J, Lin K-H, Luan J'an, Lyytikäinen L-P, McKenzie CA, Nelson CP, Noordam R, Scott RA, Sheu WHH, Stančáková A, Takeuchi F, van der Most PJ, Varga TV, Waken RJ, Wang H, Wang Y, Ware EB, Weiss S, Wen W, Yanek LR, Zhang W, Zhao JHua, Afaq S, Alfred T, Amin N, Arking DE, Aung T, R Barr G, Bielak LF, Boerwinkle E, Bottinger EP, Braund PS, Brody JA, Broeckel U, Cade B, Campbell A, Canouil M, Chakravarti A, Cocca M, Collins FS, Connell JM, de Mutsert R, H de Silva J, Dörr M, Duan Q, Eaton CB, Ehret G, Evangelou E, Faul JD, Forouhi NG, Franco OH, Friedlander Y, Gao H, Gigante B, C Gu C, Gupta P, Hagenaars SP, Harris TB, He J, Heikkinen S, Heng C-K, Hofman A, Howard BV, Hunt SC, Irvin MR, Jia Y, Katsuya T, Kaufman J, Kerrison ND, Khor CChuen, Koh W-P, Koistinen HA, Kooperberg CB, Krieger JE, Kubo M, Kutalik Z, Kuusisto J, Lakka TA, Langefeld CD, Langenberg C, Launer LJ, Lee JH, Lehne B, Levy D, Lewis CE, Li Y, Lim SHui, Liu C-T, Liu J, Liu J, Liu Y, Loh M, Lohman KK, Louie T, Mägi R, Matsuda K, Meitinger T, Metspalu A, Milani L, Momozawa Y, Mosley TH, Nalls MA, Nasri U, O'Connell JR, Ogunniyi A, Palmas WR, Palmer ND, Pankow JS, Pedersen NL, Peters A, Peyser PA, Polasek O, Porteous D, Raitakari OT, Renstrom F, Rice TK, Ridker PM, Robino A, Robinson JG, Rose LM, Rudan I, Sabanayagam C, Salako BL, Sandow K, Schmidt CO, Schreiner PJ, Scott WR, Sever P, Sims M, Sitlani CM, Smith BH, Smith JA, Snieder H, Starr JM, Strauch K, Tang H, Taylor KD, Teo YYing, Tham YChung, Uitterlinden AG, Waldenberger M, Wang L, Wang YXing, Bin Wei W, Wilson G, Wojczynski MK, Xiang Y-B, Yao J, Yuan J-M, Zonderman AB, Becker DM, Boehnke M, Bowden DW, Chambers JC, Chen Y-DIda, Weir DR, de Faire U, Deary IJ, Esko T, Farrall M, Forrester T, Freedman BI, Froguel P, Gasparini P, Gieger C, Horta BLessa, Hung Y-J, Jonas JBruno, Kato N, Kooner JS, Laakso M, Lehtimäki T, Liang K-W, Magnusson PKE, Oldehinkel AJ, Pereira AC, Perls T, Rauramaa R, Redline S, Rettig R, Samani NJ, Scott J, Shu X-O, van der Harst P, Wagenknecht LE, Wareham NJ, Watkins H, Wickremasinghe AR, Wu T, Kamatani Y, Laurie CC, Bouchard C, Cooper RS, Evans MK, Gudnason V, Hixson J, Kardia SLR, Kritchevsky SB, Psaty BM, van Dam RM, Arnett DK, Mook-Kanamori DO, Fornage M, Fox ER, Hayward C, van Duijn CM, E Tai S, Wong TYin, Loos RJF, Reiner AP, Rotimi CN, Bierut LJ, Zhu X, L Cupples A, Province MA, Rotter JI, Franks PW, Rice K, Elliott P, Caulfield MJ, W Gauderman J, Munroe PB, Rao DC, Morrison AC. A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure. Hum Mol Genet. 2019 ;28(15):2615-2633.

2016

Sung YJu, Winkler TW, Manning AK, Aschard H, Gudnason V, Harris TB, Smith AV, Boerwinkle E, Brown MR, Morrison AC, Fornage M, Lin L-A, Richard M, Bartz TM, Psaty BM, Hayward C, Polasek O, Marten J, Rudan I, Feitosa MF, Kraja AT, Province MA, Deng X, Fisher VA, Zhou Y, Bielak LF, Smith J, Huffman JE, Padmanabhan S, Smith BH, Ding J, Liu Y, Lohman K, Bouchard C, Rankinen T, Rice TK, Arnett D, Schwander K, Guo X, Palmas W, Rotter JI, Alfred T, Bottinger EP, Loos RJF, Amin N, Franco OH, van Duijn CM, Vojinovic D, Chasman DI, Ridker PM, Rose LM, Kardia S, Zhu X, Rice K, Borecki IB, Rao DC, W Gauderman J, L Cupples A. An Empirical Comparison of Joint and Stratified Frameworks for Studying G × E Interactions: Systolic Blood Pressure and Smoking in the CHARGE Gene-Lifestyle Interactions Working Group. Genet Epidemiol. 2016 ;40(5):404-15.

2016

Sun Z, Mehta SC, Adamski CJ, Gibbs RA, Palzkill T. Deep Sequencing of Random Mutant Libraries Reveals the Active Site of the Narrow Specificity CphA Metallo-β-Lactamase is Fragile to Mutations. Sci Rep. 2016 ;6:33195.

2021

Sun D, Richard M, Musani SK, Sung YJu, Winkler TW, Schwander K, Chai JFang, Guo X, Kilpeläinen TO, Vojinovic D, Aschard H, Bartz TM, Bielak LF, Brown MR, Chitrala K, Hartwig FP, Horimoto ARVR, Liu Y, Manning AK, Noordam R, Smith AV, Harris SE, Kühnel B, Lyytikäinen L-P, Nolte IM, Rauramaa R, van der Most PJ, Wang R, Ware EB, Weiss S, Wen W, Yanek LR, Arking DE, Arnett DK, Barac A, Boerwinkle E, Broeckel U, Chakravarti A, Chen Y-DIda, L Cupples A, Davigulus ML, Fuentes Lde Las, de Mutsert R, de Vries PS, Delaney JAC, Roux AVDiez, Dörr M, Faul JD, Fretts AM, Gallo LC, Grabe HJörgen, C Gu C, Harris TB, Hartman CCA, Heikkinen S, M Ikram A, Isasi C, W Johnson C, Jonas JBruno, Kaplan RC, Komulainen P, Krieger JE, Levy D, Liu J, Lohman K, Luik AI, Martin LW, Meitinger T, Milaneschi Y, O'Connell JR, Palmas WR, Peters A, Peyser PA, Pulkki-Råback L, Raffel LJ, Reiner AP, Rice K, Robinson JG, Rosendaal FR, Schmidt COliver, Schreiner PJ, Schwettmann L, Shikany JM, Shu X-O, Sidney S, Sims M, Smith JA, Sotoodehnia N, Strauch K, E Tai S, Taylor K, Uitterlinden AG, van Duijn CM, Waldenberger M, Wee H-L, Bin Wei W-, Wilson G, Xuan D, Yao J, Zeng D, Zhao W, Zhu X, Zonderman AB, Becker DM, Deary IJ, Gieger C, Lakka TA, Lehtimäki T, North KE, Oldehinkel AJ, Penninx BWJH, Snieder H, Wang Y-X, Weir DR, Zheng W, Evans MK, W Gauderman J, Gudnason V, Horta BL, Liu C-T, Mook-Kanamori DO, Morrison AC, Pereira AC, Psaty BM, Amin N, Fox ER, Kooperberg C, Sim X, Bierut L, Rotter JI, Kardia SLR, Franceschini N, Rao DC, Fornage M. Multi-Ancestry Genome-wide Association Study Accounting for Gene-Psychosocial Factor Interactions Identifies Novel Loci for Blood Pressure Traits. HGG Adv. 2021 ;2(1).

2014

Sun D, Luo M, Jeong M, Rodriguez B, Xia Z, Hannah R, Wang H, Le T, Faull KF, Chen R, Gu H, Bock C, Meissner A, Göttgens B, Darlington GJ, Li W, Goodell MA. Epigenomic profiling of young and aged HSCs reveals concerted changes during aging that reinforce self-renewal. Cell Stem Cell. 2014 ;14(5):673-88.

2017

Sumazin P, Chen Y, Treviño LR, Sarabia SF, Hampton OA, Patel K, Mistretta T-A, Zorman B, Thompson P, Heczey A, Comerford S, Wheeler DA, Chintagumpala M, Meyers R, Rakheja D, Finegold MJ, Tomlinson G, D Parsons W, López-Terrada D. Genomic analysis of hepatoblastoma identifies distinct molecular and prognostic subgroups. Hepatology. 2017 ;65(1):104-121.

2003

Sucgang R, Chen G, Liu W, Lindsay R, Lu J, Muzny D, Shaulsky G, Loomis W, Gibbs R, Kuspa A. Sequence and structure of the extrachromosomal palindrome encoding the ribosomal RNA genes in Dictyostelium. Nucleic Acids Res. 2003 ;31(9):2361-8.

2010

Subramanian V, Doddapaneni H, Syed K, Yadav JS. P450 redox enzymes in the white rot fungus Phanerochaete chrysosporium: gene transcription, heterologous expression, and activity analysis on the purified proteins. Curr Microbiol. 2010 ;61(4):306-14.

2017

Stray-Pedersen A, Sorte HSørmo, Samarakoon P, Gambin T, Chinn IK, Akdemir ZHCoban, Erichsen HChristian, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OKristin, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AGrete, Skogen V, Osnes LTN, Kulseth MAnn, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MSoledad, Bezrodnik L, Reyes SOswaldo Lu, Rosales FJEspinosa, Guerrero-Cursaru NDenisse, Pedroza LAlberto, Poli CM, Franco JL, Vargas CMTrujillo, Becerra JCarlos Ald, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MMusa, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, I Hanson C, Zhang VW, Wong L-J, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 ;139(1):232-245.

2002

Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, M Soares B, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YSN, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJM, Marra MA. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 ;99(26):16899-903.

2017

Stitziel NO, Khera AV, Wang X, Bierhals AJ, A Vourakis C, Sperry AE, Natarajan P, Klarin D, Emdin CA, Zekavat SM, Nomura A, Erdmann J, Schunkert H, Samani NJ, Kraus WE, Shah SH, Yu B, Boerwinkle E, Rader DJ, Gupta N, Frossard PM, Rasheed A, Danesh J, Lander ES, Gabriel S, Saleheen D, Musunuru K, Kathiresan S. ANGPTL3 Deficiency and Protection Against Coronary Artery Disease. J Am Coll Cardiol. 2017 ;69(16):2054-2063.

2015

Stiles AR, Ferdinandusse S, Besse A, Appadurai V, Leydiker KB, Cambray-Forker EJ, Bonnen PE, Abdenur JE. Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease. Mol Genet Metab. 2015 ;115(4):161-7.

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