Publications

Filters: Author is Boerwinkle, Eric  [Clear All Filters]
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 
N
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, García-González P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Alvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AArias, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor ABelén, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LIgnacio, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chêne G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen H-H, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MCarolina, Daniele A, Dardiotis E, Dartigues J-F, de Deyn PPaul, Lopes Kde Paiva, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M, Diehl-Schmid J, Diez-Fairen M, Rossi PDionigi, Djurovic S, Duron E, Düzel E, Dufouil C, Eiriksdottir G, Engelborghs S, Escott-Price V, Espinosa A, Ewers M, Faber KM, Fabrizio T, Nielsen SFallgaard, Fardo DW, Farotti L, Fenoglio C, Fernández-Fuertes M, Ferrari R, Ferreira CB, Ferri E, Fin B, Fischer P, Fladby T, Fließbach K, Fongang B, Fornage M, Fortea J, Foroud TM, Fostinelli S, Fox NC, Franco-Macías E, Bullido MJ, Frank-García A, Froelich L, Fulton-Howard B, Galimberti D, García-Alberca JMaría, García-González P, García-Madrona S, Garcia-Ribas G, Ghidoni R, Giegling I, Giorgio G, Goate AM, Goldhardt O, Gomez-Fonseca D, González-Perez A, Graff C, Grande G, Green E, Grimmer T, Grünblatt E, Grunin M, Gudnason V, Guetta-Baranes T, Haapasalo A, Hadjigeorgiou G, Haines JL, Hamilton-Nelson KL, Hampel H, Hanon O, Hardy J, Hartmann AM, Hausner L, Harwood J, Heilmann-Heimbach S, Helisalmi S, Heneka MT, Hernández I, Herrmann MJ, Hoffmann P, Holmes C, Holstege H, Vilas RHuerto, Hulsman M, Humphrey J, Biessels GJan, Jian X, Johansson C, Jun GR, Kastumata Y, Kauwe J, Kehoe PG, Kilander L, Ståhlbom AKinhult, Kivipelto M, Koivisto A, Kornhuber J, Kosmidis MH, Kukull WA, Kuksa PP, Kunkle BW, Kuzma AB, Lage C, Laukka EJ, Launer L, Lauria A, Lee C-Y, Lehtisalo J, Lerch O, Lleo A, Longstreth W, Lopez O, de Munain ALopez, Love S, Löwemark M, Luckcuck L, Lunetta KL, Ma Y, Macías J, MacLeod CA, Maier W, Mangialasche F, Spallazzi M, Marquié M, Marshall R, Martin ER, Montes AMartín, Rodríguez CMartínez, Masullo C, Mayeux R, Mead S, Mecocci P, Medina M, Meggy A, Mehrabian S, Mendoza S, Menéndez-González M, Mir P, Moebus S, Mol M, Molina-Porcel L, Montrreal L, Morelli L, Moreno F, Morgan K, Mosley T, Nöthen MM, Muchnik C, Mukherjee S, Nacmias B, Ngandu T, Nicolas G, Nordestgaard BG, Olaso R, Orellana A, Orsini M, Ortega G, Padovani A, Paolo C, Papenberg G, Parnetti L, Pasquier F, Pastor P, Peloso G, Pérez-Cordón A, Pérez-Tur J, Pericard P, Peters O, Pijnenburg YAL, Pineda JA, Piñol-Ripoll G, Pisanu C, Polak T, Popp J, Posthuma D, Priller J, Puerta R, Quenez O, Quintela I, Thomassen JQvist, Rábano A, Rainero I, Rajabli F, Ramakers I, Real LM, Reinders MJT, Reitz C, Reyes-Dumeyer D, Ridge P, Riedel-Heller S, Riederer P, Roberto N, Rodriguez-Rodriguez E, Rongve A, Allende IRosas, Rosende-Roca M, Royo JLuís, Rubino E, Rujescu D, Sáez MEugenia, Sakka P, Saltvedt I, Sanabria Á, Sánchez-Arjona MBernal, Sanchez-Garcia F, Juan PSánchez, Sánchez-Valle R, Sando SB, Sarnowski C, Satizabal CL, Scamosci M, Scarmeas N, Scarpini E, Scheltens P, Scherbaum N, Scherer M, Schmid M, Schneider A, Schott JM, Selbæk G, Seripa D, Serrano M, Sha J, Shadrin AA, Skrobot O, Slifer S, Snijders GJL, Soininen H, Solfrizzi V, Solomon A, Song Y, Sorbi S, Sotolongo-Grau O, Spalletta G, Spottke A, Squassina A, Stordal E, Tartan JPablo, Tarraga L, Tesi N, Thalamuthu A, Thomas T, Tosto G, Traykov L, Tremolizzo L, Tybjærg-Hansen A, Uitterlinden A, Ullgren A, Ulstein I, Valero S, Valladares O, Van Broeckhoven C, Vance J, Vardarajan BN, van der Lugt A, Van Dongen J, van Rooij J, van Swieten J, Vandenberghe R, Verhey F, Vidal J-S, Vogelgsang J, Vyhnalek M, Wagner M, Wallon D, San Wang L-, Wang R, Weinhold L, Wiltfang J, Windle G, Woods B, Yannakoulia M, Zare H, Zhao Y, Zhang X, Zhu C, Zulaica M, Farrer LA, Psaty BM, Ghanbari M, Raj T, Sachdev P, Mather K, Jessen F, M Ikram A, de Mendonça A, Hort J, Tsolaki M, Pericak-Vance MA, Amouyel P, Williams J, Frikke-Schmidt R, Clarimon J, Deleuze J-F, Rossi G, Seshadri S, Andreassen OA, Ingelsson M, Hiltunen M, Sleegers K, Schellenberg GD, van Duijn CM, Sims R, van der Flier WM, Ruiz A, Ramirez A, Lambert J-C. New insights into the genetic etiology of Alzheimer's disease and related dementias. Nat Genet. 2022 ;54(4):412-436.
Riveiro-Álvarez R, Xie YAngela, López-Martínez M-Á, Gambin T, Pérez-Carro R, Ávila-Fernández A, López-Molina M-I, Zernant J, Jhangiani S, Muzny DM, Yuan B, Boerwinkle E, Gibbs RA, Lupski JR, Ayuso C, Allikmets R. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 ;133(2):133-9.
Xie YAngela, Lee W, Cai C, Gambin T, Nõupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny D, Boerwinkle E, Gibbs R, Greenstein VC, Lupski JR, Tsang SH, Allikmets R. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet. 2014 ;23(21):5774-80.
Baumert J, Huang J, McKnight B, Sabater-Lleal M, Steri M, Chu AY, Trompet S, Lopez LM, Fornage M, Teumer A, Tang W, Rudnicka AR, Mälarstig A, Hottenga J-J, Kavousi M, Lahti J, Tanaka T, Hayward C, Huffman JE, Morange P-E, Rose LM, Basu S, Rumley A, Stott DJ, Buckley BM, de Craen AJM, Sanna S, Masala M, Biffar R, Homuth G, Silveira A, Sennblad B, Goel A, Watkins H, Müller-Nurasyid M, Rückerl R, Taylor K, Chen M-H, de Geus EJC, Hofman A, Witteman JCM, de Maat MPM, Palotie A, Davies G, Siscovick DS, Kolcic I, Wild SH, Song J, McArdle WL, Ford I, Sattar N, Schlessinger D, Grotevendt A, Franzosi MGrazia, Illig T, Waldenberger M, Lumley T, Tofler GH, Willemsen G, Uitterlinden AG, Rivadeneira F, Räikkönen K, Chasman DI, Folsom AR, Lowe GD, Westendorp RGJ, P Slagboom E, Cucca F, Wallaschofski H, Strawbridge RJ, Seedorf U, Koenig W, Bis JC, Mukamal KJ, van Dongen J, Widen E, Franco OH, Starr JM, Liu K, Ferrucci L, Polasek O, Wilson JF, Oudot-Mellakh T, Campbell H, Navarro P, Bandinelli S, Eriksson J, Boomsma DI, Dehghan A, Clarke R, Hamsten A, Boerwinkle E, J Jukema W, Naitza S, Ridker PM, Völzke H, Deary IJ, Reiner AP, Trégouët D-A, O'Donnell CJ, Strachan DP, Peters A, Smith NL. No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects. PLoS One. 2014 ;9(12):e111156.
Dardas Z, Fatih JM, Jolly A, Dawood M, Du H, Grochowski CM, Jones EG, Jhangiani SN, Wehrens XHT, Liu P, Bi W, Boerwinkle E, Posey JE, Muzny DM, Gibbs RA, Lupski JR, Coban-Akdemir Z, Morris SA. NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome Med. 2024 ;16(1):53.
Feitosa MF, Kraja AT, Chasman DI, Sung YJ, Winkler TW, Ntalla I, Guo X, Franceschini N, Cheng C-Y, Sim X, Vojinovic D, Marten J, Musani SK, Li C, Bentley AR, Brown MR, Schwander K, Richard MA, Noordam R, Aschard H, Bartz TM, Bielak LF, Dorajoo R, Fisher V, Hartwig FP, Horimoto ARVR, Lohman KK, Manning AK, Rankinen T, Smith AV, Tajuddin SM, Wojczynski MK, Alver M, Boissel M, Cai Q, Campbell A, Chai JFang, Chen X, Divers J, Gao C, Goel A, Hagemeijer Y, Harris SE, He M, Hsu F-C, Jackson AU, Kähönen M, Kasturiratne A, Komulainen P, Kühnel B, Laguzzi F, Luan J'an, Matoba N, Nolte IM, Padmanabhan S, Riaz M, Rueedi R, Robino A, M Said A, Scott RA, Sofer T, Stančáková A, Takeuchi F, Tayo BO, van der Most PJ, Varga TV, Vitart V, Wang Y, Ware EB, Warren HR, Weiss S, Wen W, Yanek LR, Zhang W, Zhao JHua, Afaq S, Amin N, Amini M, Arking DE, Aung T, Boerwinkle E, Borecki I, Broeckel U, Brown M, Brumat M, Burke GL, Canouil M, Chakravarti A, Charumathi S, Chen Y-DIda, Connell JM, Correa A, Fuentes Lde Las, de Mutsert R, H de Silva J, Deng X, Ding J, Duan Q, Eaton CB, Ehret G, Eppinga RN, Evangelou E, Faul JD, Felix SB, Forouhi NG, Forrester T, Franco OH, Friedlander Y, Gandin I, Gao H, Ghanbari M, Gigante B, C Gu C, Gu D, Hagenaars SP, Hallmans G, Harris TB, He J, Heikkinen S, Heng C-K, Hirata M, Howard BV, M Ikram A, John U, Katsuya T, Khor CChuen, Kilpeläinen TO, Koh W-P, Krieger JE, Kritchevsky SB, Kubo M, Kuusisto J, Lakka TA, Langefeld CD, Langenberg C, Launer LJ, Lehne B, Lewis CE, Li Y, Lin S, Liu J, Liu J, Loh M, Louie T, Mägi R, McKenzie CA, Meitinger T, Metspalu A, Milaneschi Y, Milani L, Mohlke KL, Momozawa Y, Nalls MA, Nelson CP, Sotoodehnia N, Norris JM, O'Connell JR, Palmer ND, Perls T, Pedersen NL, Peters A, Peyser PA, Poulter N, Raffel LJ, Raitakari OT, Roll K, Rose LM, Rosendaal FR, Rotter JI, Schmidt CO, Schreiner PJ, Schupf N, Scott WR, Sever PS, Shi Y, Sidney S, Sims M, Sitlani CM, Smith JA, Snieder H, Starr JM, Strauch K, Stringham HM, Tan NYQ, Tang H, Taylor KD, Teo YYing, Tham YChung, Turner ST, Uitterlinden AG, Vollenweider P, Waldenberger M, Wang L, Wang YXing, Bin Wei W, Williams C, Yao J, Yu C, Yuan J-M, Zhao W, Zonderman AB, Becker DM, Boehnke M, Bowden DW, Chambers JC, Deary IJ, Esko T, Farrall M, Franks PW, Freedman BI, Froguel P, Gasparini P, Gieger C, Jonas JBruno, Kamatani Y, Kato N, Kooner JS, Kutalik Z, Laakso M, Laurie CC, Leander K, Lehtimäki T, Study LCohort, Magnusson PKE, Oldehinkel AJ, Penninx BWJH, Polasek O, Porteous DJ, Rauramaa R, Samani NJ, Scott J, Shu X-O, van der Harst P, Wagenknecht LE, Wareham NJ, Watkins H, Weir DR, Wickremasinghe AR, Wu T, Zheng W, Bouchard C, Christensen K, Evans MK, Gudnason V, Horta BL, Kardia SLR, Liu Y, Pereira AC, Psaty BM, Ridker PM, van Dam RM, W Gauderman J, Zhu X, Mook-Kanamori DO, Fornage M, Rotimi CN, L Cupples A, Kelly TN, Fox ER, Hayward C, van Duijn CM, E Tai S, Wong TYin, Kooperberg C, Palmas W, Rice K, Morrison AC, Elliott P, Caulfield MJ, Munroe PB, Rao DC, Province MA, Levy D. Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. PLoS One. 2018 ;13(6):e0198166.
O
Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet. 2011 ;20(17):3366-75.
P
Wang M, Beck CR, English AC, Meng Q, Buhay C, Han Y, Doddapaneni H, Yu F, Boerwinkle E, Lupski JR, Muzny DM, Gibbs RA. PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. BMC Genomics. 2015 ;16(1):214.
Fornage M, Lopez DS, Roseman JM, Siscovick DS, Wong ND, Boerwinkle E. Parental history of stroke and myocardial infarction predicts coronary artery calcification: The Coronary Artery Risk Development in Young Adults (CARDIA) study. Eur J Cardiovasc Prev Rehabil. 2004 ;11(5):421-6.
Zarate S, Carroll A, Mahmoud M, Krasheninina O, Jun G, Salerno WJ, Schatz MC, Boerwinkle E, Gibbs RA, Sedlazeck FJ. Parliament2: Accurate structural variant calling at scale. Gigascience. 2020 ;9(12).
Smith HStevens, Sanchez CE, Maag R, Buentello A, Murdock DR, Metcalf GA, Hadley TD, Riconda DL, Boerwinkle E, Wehrens XHT, Ballantyne CM, Gibbs RA, McGuire AL, Pereira S. Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study. Circ Genom Precis Med. 2022 ;15(6):e003605.
Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin C-F, Stevens C, San Wang L-, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012 ;485(7397):242-5.
Gawlinski P, Posmyk R, Gambin T, Sielicka D, Chorazy M, Nowakowska B, Jhangiani SN, Muzny DM, Bekiesinska-Figatowska M, Bal J, Boerwinkle E, Gibbs RA, Lupski JR, Wiszniewski W. PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. Pediatr Neurol. 2016 ;60:83-7.
Liu X, Li C, Boerwinkle E. The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes. J Med Genet. 2017 ;54(2):134-144.
Volcik KA, Nettleton JA, Ballantyne CM, Boerwinkle E. Peroxisome proliferator-activated receptor [alpha] genetic variation interacts with n-6 and long-chain n-3 fatty acid intake to affect total cholesterol and LDL-cholesterol concentrations in the Atherosclerosis Risk in Communities Study. Am J Clin Nutr. 2008 ;87(6):1926-31.
van der Zee A-HMaitland-, Boerwinkle E. Pharmacogenetics of response to statins: where do we stand?. Curr Atheroscler Rep. 2005 ;7(3):204-8.
Floyd JS, Bloch KM, Brody JA, Maroteau C, Siddiqui MK, Gregory R, Carr DF, Molokhia M, Liu X, Bis JC, Ahmed A, Liu X, Hallberg P, Yue Q-Y, Magnusson PKE, Brisson D, Wiggins KL, Morrison AC, Khoury E, McKeigue P, Stricker BH, Lapeyre-Mestre M, Heckbert SR, Gallagher AM, Chinoy H, Gibbs RA, Bondon-Guitton E, Tracy R, Boerwinkle E, Gaudet D, Conforti A, van Staa T, Sitlani CM, Rice KM, van der Zee A-HMaitland-, Wadelius M, Morris AP, Pirmohamed M, Palmer CAN, Psaty BM, Alfirevic A. Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing. PLoS One. 2019 ;14(6):e0218115.
Xu J, Liu G, Hegde SM, Palta P, Boerwinkle E, Gabriel KP, Yu B. Physical Activity-Related Metabolites Are Associated with Mortality: Findings from the Atherosclerosis Risk in Communities (ARIC) Study. Metabolites. 2021 ;11(1).
Damotte V, van der Lee SJ, Chouraki V, Grenier-Boley B, Simino J, Adams H, Tosto G, White C, Terzikhan N, Cruchaga C, Knol MJ, Li S, Schraen S, Grove ML, Satizabal C, Amin N, Berr C, Younkin S, Gottesman RF, Buée L, Beiser A, Knopman DS, Uitterlinden A, DeCarli C, Bressler J, DeStefano A, Dartigues J-F, Yang Q, Boerwinkle E, Tzourio C, Fornage M, M Ikram A, Amouyel P, de Jager P, Reitz C, Mosley TH, Lambert J-C, Seshadri S, van Duijn CM. Plasma amyloid β levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants. Alzheimers Dement. 2021 ;17(10):1663-1674.
Zhang J, Dutta D, Köttgen A, Tin A, Schlosser P, Grams ME, Harvey B, Yu B, Boerwinkle E, Coresh J, Chatterjee N. Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies. Nat Genet. 2022 ;54(5):593-602.
Eicher JD, Chami N, Kacprowski T, Nomura A, Chen M-H, Yanek LR, Tajuddin SM, Schick UM, Slater AJ, Pankratz N, Polfus L, Schurmann C, Giri A, Brody JA, Lange LA, Manichaikul A, W Hill D, Pazoki R, Elliot P, Evangelou E, Tzoulaki I, Gao H, Vergnaud A-C, Mathias RA, Becker DM, Becker LC, Burt A, Crosslin DR, Lyytikäinen L-P, Nikus K, Hernesniemi J, Kähönen M, Raitoharju E, Mononen N, Raitakari OT, Lehtimäki T, Cushman M, Zakai NA, Nickerson DA, Raffield LM, Quarells R, Willer CJ, Peloso GM, Abecasis GR, Liu DJ, Deloukas P, Samani NJ, Schunkert H, Erdmann J, Fornage M, Richard M, Tardif J-C, Rioux JD, Dube M-P, de Denus S, Lu Y, Bottinger EP, Loos RJF, Smith AVernon, Harris TB, Launer LJ, Gudnason V, Edwards DRVelez, Torstenson ES, Liu Y, Tracy RP, Rotter JI, Rich SS, Highland HM, Boerwinkle E, Li J, Lange E, Wilson JG, Mihailov E, Mägi R, Hirschhorn J, Metspalu A, Esko T, Vacchi-Suzzi C, Nalls MA, Zonderman AB, Evans MK, Engström G, Orho-Melander M, Melander O, O'Donoghue ML, Waterworth DM, Wallentin L, White HD, Floyd JS, Bartz TM, Rice KM, Psaty BM, Starr JM, Liewald DCM, Hayward C, Deary IJ, Greinacher A, Völker U, Thiele T, Völzke H, van Rooij FJA, Uitterlinden AG, Franco OH, Dehghan A, Edwards TL, Ganesh SK, Kathiresan S, Faraday N, Auer PL, Reiner AP, Lettre G, Johnson AD. Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. Am J Hum Genet. 2016 ;99(1):40-55.
van der Lee SJ, Holstege H, Wong THang, Jakobsdottir J, Bis JC, Chouraki V, van Rooij JGJ, Grove ML, Smith AV, Amin N, Choi S-H, Beiser AS, Garcia ME, van IJcken WFJ, Pijnenburg YAL, Louwersheimer E, Brouwer RWW, van den Hout MCGN, Oole E, Eirkisdottir G, Levy D, Rotter JI, Emilsson V, O'Donnell CJ, Aspelund T, Uitterlinden AG, Launer LJ, Hofman A, Boerwinkle E, Psaty BM, DeStefano AL, Scheltens P, Seshadri S, van Swieten JC, Gudnason V, van der Flier WM, M Ikram A, van Duijn CM. PLD3 variants in population studies. Nature. 2015 ;520(7545):E2-3.
Li Q, Qu H-Q, Rentfro AR, Grove ML, Mirza S, Lu Y, Hanis CL, Fallon MB, Boerwinkle E, Fisher-Hoch SP, McCormick JB. PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population. Clin Invest Med. 2012 ;35(4):E237-45.
White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, V Sutton R. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 ;8(1):3.
Alkis T, Luo X, Wall K, Brody J, Bartz T, Chang PP, Norby FL, Hoogeveen RC, Morrison AC, Ballantyne CM, Coresh J, Boerwinkle E, Psaty BM, Shah AM, Yu B. A polygenic risk score of atrial fibrillation improves prediction of lifetime risk for heart failure. ESC Heart Fail. 2024 ;11(2):1086-1096.