Jurgens SJ, Melloni GEM, Kany S, Fabritz L, Rämö JT, Goette A, Kamanu FK, Berg DD, Magnussen C, Choi SH, Bonaca MP, Giugliano RP, Scirica BM, Wiviott SD, Bhatt DL, Steg PG, Raz I, Braunwald E, Pirruccello JP, Sabatine MS, Marston NA, Kirchhof P, Ellinor PT, Ruff CT. Pathogenic Cardiomyopathy-Associated Gene Variants and Prognosis in Atrial Fibrillation: Results in 18,000 Clinical Trial Participants. J Am Coll Cardiol. 2025 Sep 09; 86(10):738-753.

Selvaraj MS, Li X, Li Z, Van Buren E, Haidermota S, Postupaka D, Hornsby W, Bis JC, Brody JA, Cade BE, Chung RH, Curran JE, Damrauer SM, de Las Fuentes L, de Vries PS, Duggirala R, Freedman BI, Graff M, Guo X, Hidalgo BA, Hou L, Irvin R, Judy R, Kalyani RR, Kelly TN, Konigsberg IR, Kral BG, Kwee LC, Levy D, Li C, Manichaikul AW, Martin LW, Montasser ME, Morrison AC, Naseri T, North KE, O'Connell JR, Palmer ND, Peyser PA, Reiner AP, Shah SH, Smit RAJ, Smith JA, Taylor KD, Tiwari H, Tsai MY, Viali S, Wang Z, Wang Y, Zhao W, Arnett DK, Blangero J, Boerwinkle E, Bowden DW, Carlson JC, Chen YI, Ellinor PT, Fornage M, He J, Heard-Costa N, Kaplan RC, Kardia SLR, Kooperberg C, Kraus WE, Lange LA, Loos RJF, Mitchell BD, Psaty BM, Rader DJ, Redline S, Rich SS, Yanek LR, Gibbs R, Gabriel S, Viaud-Martinez KA, Dutcher SK, Germer S, Kim R, Rotter JI, Lin X, Peloso GM, Natarajan P. Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals. Genome Biol. 2025 Sep 09; 26(1):273.

Kronenberg Z, Nolan C, Porubsky D, Mokveld T, Rowell WJ, Lee S, Dolzhenko E, Chang PC, Holt JM, Saunders CT, Olson ND, Steely CJ, McGee S, Guarracino A, Koundinya N, Harvey WT, Watkins WS, Munson KM, Hoekzema K, Chua KP, Chen X, Fanslow C, Lambert C, Dashnow H, Garrison E, Smith JD, Lansdorp PM, Zook JM, Carroll A, Jorde LB, Neklason DW, Quinlan AR, Eichler EE, Eberle MA. The Platinum Pedigree: a long-read benchmark for genetic variants. Nat Methods. 2025 Aug; 22(8):1669-1676.

Logsdon GA, Ebert P, Audano PA, Loftus M, Porubsky D, Ebler J, Yilmaz F, Hallast P, Prodanov T, Yoo D, Paisie CA, Harvey WT, Zhao X, Martino GV, Henglin M, Munson KM, Rabbani K, Chin CS, Gu B, Ashraf H, Scholz S, Austine-Orimoloye O, Balachandran P, Bonder MJ, Cheng H, Chong Z, Crabtree J, Gerstein M, Guethlein LA, Hasenfeld P, Hickey G, Hoekzema K, Hunt SE, Jensen M, Jiang Y, Koren S, Kwon Y, Li C, Li H, Li J, Norman PJ, Oshima KK, Paten B, Phillippy AM, Pollock NR, Rausch T, Rautiainen M, Song Y, Söylev A, Sulovari A, Surapaneni L, Tsapalou V, Zhou W, Zhou Y, Zhu Q, Zody MC, Mills RE, Devine SE, Shi X, Talkowski ME, Chaisson MJP, Dilthey AT, Konkel MK, Korbel JO, Lee C, Beck CR, Eichler EE, Marschall T. Complex genetic variation in nearly complete human genomes. Nature. 2025 Aug; 644(8076):430-441.

Lovell JT, Walstead R, Lawrence A, Stark-Dykema E, Farnitano MC, Harder A, Bruna T, Barry K, Goodstein D, Jenkins J, Lipzen A, Boston L, Webber J, Chovatia M, Eichenberger J, Talag J, Grimwood J, Schmutz J, Kelly JK, Sweigart AL, Fishman L, Willis JH. Comparative Analyses of Four Reference Genomes Reveal Exceptional Diversity and Weak Linked Selection in the Yellow Monkeyflower (Mimulus guttatus) Complex. Mol Ecol Resour. 2025 Nov; 25(8):e70012.

Thomsen M, Ott F, Loens S, Kilic-Berkmen G, Tan AH, Lim SY, Lohmann E, Schröder KM, Ipsen L, Nothacker LA, Welzel L, Rudnik AS, Hinrichs F, Odorfer T, Zeuner KE, Schumann F, Kühn AA, Zittel S, Moeller M, Pfister R, Kamm C, Lang AE, Tay YW, de Almeida Marcelino AL, Vidailhet M, Roze E, Perlmutter JS, Feuerstein JS, Fung VSC, Chang F, Barbano RL, Bellows S, Wagle Shukla AA, Espay AJ, LeDoux MS, Berman BD, Reich S, Deik A, Franke A, Wittig M, Franzenburg S, Volkmann J, Brüggemann N, Jinnah HA, Bäumer T, Klein C, Busch H, Lohmann K. Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing. Ann Clin Transl Neurol. 2025 Aug; 12(8):1648-1659.

Moya-Mendez ME, Bidzimou MT, Muralidharan P, Zhang Z, Ezekian JE, Perelli RM, Parker LE, Prange L, Boggs A, Kim JJ, Howard TS, Word TA, Wehrens XHT, Reyes Valenzuela G, Caraballo R, Garone G, Vigevano F, Weckhuysen S, Millevert C, Troncoso M, Matamala M, Balestrini S, Sisodiya SM, Poole J, Zucca C, Panagiotakaki E, Papadopoulou MT, Tchaicha S, Zawadzka M, Mazurkiewicz-Beldzinska M, Fons C, Anticona J, De Grandis E, Cordani R, Pisciotta L, Groppa S, Paryjas S, Ragona F, Mangia E, Granata T, Megvinov A, Pavlicek M, Ess K, Simmons CQ, George AL, Vavassori R, Mikati MA, Landstrom AP. ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias. JAMA Pediatr. 2025 May 01; 179(5):529-539.

Alonso-González A, Jáspez D, Lorenzo-Salazar JM, Ma SF, Strickland E, Mychaleckyj J, Kim JS, Huang Y, Adegunsoye A, Oldham JM, Stewart I, Molyneaux PL, Maher TM, Wain LV, Allen RJ, Gisli Jenkins R, Kropski JA, Yaspan B, Blackwell TS, Zhang D, Garcia CK, Martinez FJ, Noth I, Flores C. Rare variants and survival of patients with idiopathic pulmonary fibrosis: analysis of a multicentre, observational cohort study with independent validation. Lancet Respir Med. 2025 Jun; 13(6):495-504.

Santos-Cortez RLP, Elling CL, Gomez HZ, Einarsdottir E, Kere J, Mattila PS, Hafrén L, Ryan AF. Rare and low-frequency variants in families with otitis media. J Mol Med (Berl). 2025 May; 103(5):559-570.

Cheerie D, Meserve MM, Beijer D, Kaiwar C, Newton L, Taylor Tavares AL, Verran AS, Sherrill E, Leonard S, Sanders SJ, Blake E, Elkhateeb N, Gandhi A, Liang NSY, Morgan JT, Verwillow A, Verheijen J, Giles A, Williams S, Chopra M, Croft L, Dafsari HS, Davidson AE, Friedman J, Gregor A, Haque B, Lechner R, Montgomery KA, Ryten M, Schober E, Siegel G, Sullivan PJ, Whittle EF, Zardetto B, Yu TW, Synofzik M, Aartsma-Rus A, Costain G, Lauffer MC. Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments. Am J Hum Genet. 2025 May 01; 112(5):975-983.