2026
  • Integrating social determinants of health and genetic risk in disease risk models.
    Biji A, Ferar K, Pejaver V, Kenny EE, Liu B, Asgari S.
    Am J Hum Genet. 2026 Jul 2;113(7):1434-1447.
  • A Genome-First Study of Familial Hypercholesterolemia Comparing African and European Ancestry Individuals.
    Winters AH, Kelly MA, Syed MG, Bergquist T, Berry ASF, Mohammed N, Cawley D, Jones LK, Pejaver V, Gidding SS, Oetjens MT.
    Circulation. 2026 Jun 16;153(24):1928-1939.
  • Calibration of in-frame indel variant effect predictors for clinical variant classification.
    Abderrazzaq H, Singh M, Babb L, Bergquist T, Brenner SE, Pejaver V, O'Donnell-Luria A, Radivojac P; ClinGen Computational Working Group and ClinGen Variant Classification Working Group.
    bioRxiv [Preprint]. 2026 Apr 18:2026.04.15.718599.
  • Gene- and domain-aware calibration increases the clinical utility of variant effect predictors.
    Chen Y, Fayer S, Jain S, Benazouz M, Sverchkov Y, Stone J, Sharma H, Bergquist T, Stewart R, Mooney SD, Craven M, Radivojac P, Starita LM, Fowler DM, Pejaver V.
    bioRxiv [Preprint]. 2026 Mar 31:2026.02.17.706269.
  • Automated machine learning of echocardiographic strain enables identification of early myocardial changes in pre-symptomatic TTR carriers.
    Weigman A, Zhao W, Liao SL, Trivieri MG, Madiman S, Lerakis S, Kenny EE, Abul-Husn NS, Pejaver V, Kontorovich AR.
    medRxiv [Preprint]. 2026 Mar 5:2026.03.04.26347545.
  • A scalable approach to resolving variants of uncertain significance.
    Tejura M, Chen Y, McEwen AE, Stewart R, Sverchkov Y, Laval F, Woo I, Zeiberg D, Shen R, Fayer S, Stone J, Smith N, Casadei S, Wang ZR, Snyder MW, Capodanno BJ, Gupta P, Benazouz M, Jain S, Heidl S, Muffley L, Dong S, Hitz BC, Gabdank I, Lin K, Da EY, Best S, Grindstaff S, Reinhart D, Rodriguez-Salas L, Seid O, Vandi AJ, Wenman C, Wheelock MK, Pendyala S, Holmes D, Xu A, Hosokai A, Tixhon M, Reno C, Ewald JD, Spirohn-Fitzgerald K, Teelucksingh T, Hao T, Chen ZS, Haghighi M, Hamid AK, Miglietta EA, Weisbart E, Coppin G, Lambourne L, Gebbia M, Coté AG, van Loggerenberg W, Fawcett KM, Steiner RD, Johnsen JM, Stergachis AB, Iakoucheva LM, Singh S, Cimini BA, Roth FP, James RG; IGVF Coding Variants Focus Group; Vidal M, Taipale M, Carpenter AE, Calderwood MA, Craven M, Pejaver V, Rubin AF, Radivojac P, Fowler DM, Starita LM.
    bioRxiv [Preprint]. 2026 Feb 23:2026.02.14.705848.
  • Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features.
    Tinker RJ, Jacob N, Syed MG, Kelkar J, Donnelly C, Elsharkawi I, Ganesh J, Gelb BD, Pejaver V, Kozicz T, Morava E.
    JIMD Rep. 2026 Jan 22;67(1):e70068.
  • Developing a phenotype risk score for <i>TTR</i> V142I to capture undiagnosed variant transthyretin amyloidosis in health systems.
    Sarkar D, Ferar KD, Syed MG, Bastarache LA, Kenny EE, Abul-Husn NS, Pejaver V, Kontorovich AR.
    medRxiv [Preprint]. 2026 Jan 6:2026.01.05.26343489.
  • The IGVF catalog-from genetic variation to function.
    Li D, Liu S, Assis PR, Li M, Dong S, Whaling I, Jolanki O, Kagda M, Zhang W, Macias-Velasco JF, Liu T, Cody S, Antonacci-Fulton L, Huang Y, Liu J, Montgomery MT, Zeiberg D, Jain S, Pejaver V, Bergquist T, Chen Y, Radivojac P, Gersbach CA, Sherpa RN, Castro CP, Boyle AP, Starita LM, Fowler DM, Ahituv N, Dey KK, Majoros WH, Reddy TE, Craven M, Sinha R, Sverchkov Y, Cai X, Nzima MZ, Calderwood MA, Rozowsky J, Gerstein M, Ma J, Yue F, Cherry JM, Love MI, Engreitz JM, Hitz BC, Wang T.
    Nucleic Acids Res. 2026 Jan 6;54(D1):D1437-D1445.
2025
  • Extracting and calibrating evidence of variant pathogenicity from population biobank data.
    Bhat V, Yu T, Brown L, Pejaver V, Lebo M, Harrison S, Cassa CA.
    Am J Hum Genet. 2025 Aug 7;112(8):1805-1817.
  • Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.
    Bergquist T, Stenton SL, Nadeau EAW, Byrne AB, Greenblatt MS, Harrison SM, Tavtigian SV, O'Donnell-Luria A, Biesecker LG, Radivojac P, Brenner SE, Pejaver V; ClinGen Sequence Variant Interpretation Working Group.
    Genet Med. 2025 Jun;27(6):101402.
  • Gene-based calibration of high- throughput functional assays for clinical variant classification.
    Zeiberg D, Tejura M, McEwen AE, Fayer S, Pejaver V, Rubin AF, Starita LM, Fowler DM, O'Donnell-Luria A, Radivojac P.
    bioRxiv [Preprint]. 2025 May 4:2025.04.29.651326.
  • Critical assessment of missense variant effect predictors on disease-relevant variant data.
    Rastogi R, Chung R, Li S, Li C, Lee K, Woo J, Kim DW, Keum C, Babbi G, Martelli PL, Savojardo C, Casadio R, Chennen K, Weber T, Poch O, Ancien F, Cia G, Pucci F, Raimondi D, Vranken W, Rooman M, Marquet C, Olenyi T, Rost B, Andreoletti G, Kamandula A, Peng Y, Bakolitsa C, Mort M, Cooper DN, Bergquist T, Pejaver V, Liu X, Radivojac P, Brenner SE, Ioannidis NM.
    Hum Genet. 2025 Mar;144(2-3):281-293.
  • Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
    Jain S, Trinidad M, Nguyen TB, Jones K, Neto SD, Ge F, Glagovsky A, Jones C, Moran G, Wang B, Rahimi K, Çalıcı SZ, Cedillo LR, Berardelli S, Özden B, Chen K, Katsonis P, Williams A, Lichtarge O, Rana S, Pradhan S, Srinivasan R, Sajeed R, Joshi D, Faraggi E, Jernigan R, Kloczkowski A, Xu J, Song Z, Özkan S, Padilla N, de la Cruz X, Acuna-Hidalgo R, Grafmüller A, Barrón LTJ, Manfredi M, Savojardo C, Babbi G, Martelli PL, Casadio R, Sun Y, Zhu S, Shen Y, Pucci F, Rooman M, Cia G, Raimondi D, Hermans P, Kwee S, Chen E, Astore C, Kamandula A, Pejaver V, Ramola R, Velyunskiy M, Zeiberg D, Mishra R, Sterling T, Goldstein JL, Lugo- Martinez J, Kazi S, Li S, Long K, Brenner SE, Bakolitsa C, Radivojac P, Suhr D, Suhr T, Clark WT.
    Hum Genet. 2025 Mar;144(2-3):295-308.
  • Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers.
    Chen Y, Lee K, Woo J, Kim DW, Keum C, Babbi G, Casadio R, Martelli PL, Savojardo C, Manfredi M, Shen Y, Sun Y, Katsonis P, Lichtarge O, Pejaver V, Seward DJ, Kamandula A, Bakolitsa C, Brenner SE, Radivojac P, O'Donnell-Luria A, Mooney SD, Jain S.
    Hum Genet. 2025 Mar;144(2-3):127-142.
  • CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs).
    Aspromonte MC, Del Conte A, Zhu S, Tan W, Shen Y, Zhang Y, Li Q, Wang MH, Babbi G, Bovo S, Martelli PL, Casadio R, Althagafi A, Toonsi S, Kulmanov M, Hoehndorf R, Katsonis P, Williams A, Lichtarge O, Xian S, Surento W, Pejaver V, Mooney SD, Sunderam U, Srinivasan R, Murgia A, Piovesan D, Tosatto SCE, Leonardi E.
    Hum Genet. 2025 Mar;144(2-3):227-242.
2024
  • Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
    Stenton SL, Pejaver V, Bergquist T, Biesecker LG, Byrne AB, Nadeau EAW, Greenblatt MS, Harrison SM, Tavtigian SV, Radivojac P, Brenner SE, O'Donnell- Luria A; ClinGen Sequence Variant Interpretation Working Group.
    Genet Med. 2024 Nov;26(11):101213.
  • Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
    Stenton SL, O'Leary MC, Lemire G, VanNoy GE, DiTroia S, Ganesh VS, Groopman E, O'Heir E, Mangilog B, Osei-Owusu I, Pais LS, Serrano J, Singer-Berk M, Weisburd B, Wilson MW, Austin-Tse C, Abdelhakim M, Althagafi A, Babbi G, Bellazzi R, Bovo S, Carta MG, Casadio R, Coenen PJ, De Paoli F, Floris M, Gajapathy M, Hoehndorf R, Jacobsen JOB, Joseph T, Kamandula A, Katsonis P, Kint C, Lichtarge O, Limongelli I, Lu Y, Magni P, Mamidi TKK, Martelli PL, Mulargia M, Nicora G, Nykamp K, Pejaver V, Peng Y, Pham THC, Podda MS, Rao A, Rizzo E, Saipradeep VG, Savojardo C, Schols P, Shen Y, Sivadasan N, Smedley D, Soru D, Srinivasan R, Sun Y, Sunderam U, Tan W, Tiwari N, Wang X, Wang Y, Williams A, Worthey EA, Yin R, You Y, Zeiberg D, Zucca S, Bakolitsa C, Brenner SE, Fullerton SM, Radivojac P, Rehm HL, O'Donnell-Luria A.
    Hum Genomics. 2024 Apr 29;18(1):44.
2023
2022
  • Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
    Pejaver V, Byrne AB, Feng BJ, Pagel KA, Mooney SD, Karchin R, O'Donnell- Luria A, Harrison SM, Tavtigian SV, Greenblatt MS, Biesecker LG, Radivojac P, Brenner SE; ClinGen Sequence Variant Interpretation Working Group.
    Am J Hum Genet. 2022 Dec 1;109(12):2163-2177.
  • A Comparison of Natural Language Processing Methods for the Classification of Lumbar Spine Imaging Findings Related to Lower Back Pain.
    Jujjavarapu C, Pejaver V, Cohen TA, Mooney SD, Heagerty PJ, Jarvik JG.
    Acad Radiol. 2022 Mar;29 Suppl 3(Suppl 3):S188-S200.
2021
2020
2019
  • Assessment of predicted enzymatic activity of α-N- acetylglucosaminidase variants of unknown significance for CAGI 2016.
    Clark WT, Kasak L, Bakolitsa C, Hu Z, Andreoletti G, Babbi G, Bromberg Y, Casadio R, Dunbrack R, Folkman L, Ford CT, Jones D, Katsonis P, Kundu K, Lichtarge O, Martelli PL, Mooney SD, Nodzak C, Pal LR, Radivojac P, Savojardo C, Shi X, Zhou Y, Uppal A, Xu Q, Yin Y, Pejaver V, Wang M, Wei L, Moult J, Yu GK, Brenner SE, LeBowitz JH.
    Hum Mutat. 2019 Sep;40(9):1519-1529.
  • Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
    Cline MS, Babbi G, Bonache S, Cao Y, Casadio R, de la Cruz X, Díez O, Gutiérrez-Enríquez S, Katsonis P, Lai C, Lichtarge O, Martelli PL, Mishne G, Moles-Fernández A, Montalban G, Mooney SD, O'Conner R, Ootes L, Özkan S, Padilla N, Pagel KA, Pejaver V, Radivojac P, Riera C, Savojardo C, Shen Y, Sun Y, Topper S, Parsons MT, Spurdle AB, Goldgar DE; ENIGMA Consortium.
    Hum Mutat. 2019 Sep;40(9):1546-1556.
  • Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer.
    Voskanian A, Katsonis P, Lichtarge O, Pejaver V, Radivojac P, Mooney SD, Capriotti E, Bromberg Y, Wang Y, Miller M, Martelli PL, Savojardo C, Babbi G, Casadio R, Cao Y, Sun Y, Shen Y, Garg A, Pal D, Yu Y, Huff CD, Tavtigian SV, Young E, Neuhausen SL, Ziv E, Pal LR, Andreoletti G, Brenner SE, Kann MG.
    Hum Mutat. 2019 Sep;40(9):1612-1622.
  • Assessment of methods for predicting the effects of PTEN and TPMT protein variants.
    Pejaver V, Babbi G, Casadio R, Folkman L, Katsonis P, Kundu K, Lichtarge O, Martelli PL, Miller M, Moult J, Pal LR, Savojardo C, Yin Y, Zhou Y, Radivojac P, Bromberg Y.
    Hum Mutat. 2019 Sep;40(9):1495-1506.
2018
2017
  • Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework.
    Glusman G, Rose PW, Prlić A, Dougherty J, Duarte JM, Hoffman AS, Barton GJ, Bendixen E, Bergquist T, Bock C, Brunk E, Buljan M, Burley SK, Cai B, Carter H, Gao J, Godzik A, Heuer M, Hicks M, Hrabe T, Karchin R, Leman JK, Lane L, Masica DL, Mooney SD, Moult J, Omenn GS, Pearl F, Pejaver V, Reynolds SM, Rokem A, Schwede T, Song S, Tilgner H, Valasatava Y, Zhang Y, Deutsch EW.
    Genome Med. 2017 Dec 18;9(1):113.
  • Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.
    Daneshjou R, Wang Y, Bromberg Y, Bovo S, Martelli PL, Babbi G, Lena PD, Casadio R, Edwards M, Gifford D, Jones DT, Sundaram L, Bhat RR, Li X, Pal LR, Kundu K, Yin Y, Moult J, Jiang Y, Pejaver V, Pagel KA, Li B, Mooney SD, Radivojac P, Shah S, Carraro M, Gasparini A, Leonardi E, Giollo M, Ferrari C, Tosatto SCE, Bachar E, Azaria JR, Ofran Y, Unger R, Niroula A, Vihinen M, Chang B, Wang MH, Franke A, Petersen BS, Pirooznia M, Zandi P, McCombie R, Potash JB, Altman RB, Klein TE, Hoskins RA, Repo S, Brenner SE, Morgan AA.
    Hum Mutat. 2017 Sep;38(9):1182-1192.
  • Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges.
    Pejaver V, Mooney SD, Radivojac P.
    Hum Mutat. 2017 Sep;38(9):1092-1108.
  • Physicochemical sequence characteristics that influence S-palmitoylation propensity.
    Reddy KD, Malipeddi J, DeForte S, Pejaver V, Radivojac P, Uversky VN, Deschenes RJ.
    J Biomol Struct Dyn. 2017 Aug;35(11):2337-2350.
  • When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.
    Pagel KA, Pejaver V, Lin GN, Nam HJ, Mort M, Cooper DN, Sebat J, Iakoucheva LM, Mooney SD, Radivojac P.
    Bioinformatics. 2017 Jul 15;33(14):i389-i398.
2016
  • REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
    Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D, Cannon-Albright LA, Teerlink CC, Stanford JL, Isaacs WB, Xu J, Cooney KA, Lange EM, Schleutker J, Carpten JD, Powell IJ, Cussenot O, Cancel-Tassin G, Giles GG, MacInnis RJ, Maier C, Hsieh CL, Wiklund F, Catalona WJ, Foulkes WD, Mandal D, Eeles RA, Kote-Jarai Z, Bustamante CD, Schaid DJ, Hastie T, Ostrander EA, Bailey-Wilson JE, Radivojac P, Thibodeau SN, Whittemore AS, Sieh W.
    Am J Hum Genet. 2016 Oct 6;99(4):877-885.
  • The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease.
    Lugo-Martinez J, Pejaver V, Pagel KA, Jain S, Mort M, Cooper DN, Mooney SD, Radivojac P.
    PLoS Comput Biol. 2016 Aug 26;12(8):e1005091.
2015
2014
2012
2011
2010
  • Functional and evolutionary insights from the genomes of three parasitoid Nasonia species.
    Werren JH, Richards S, Desjardins CA, Niehuis O, Gadau J, Colbourne JK; Nasonia Genome Working Group; Werren JH, Richards S, Desjardins CA, Niehuis O, Gadau J, Colbourne JK, Beukeboom LW, Desplan C, Elsik CG, Grimmelikhuijzen CJ, Kitts P, Lynch JA, Murphy T, Oliveira DC, Smith CD, van de Zande L, Worley KC, Zdobnov EM, Aerts M, Albert S, Anaya VH, Anzola JM, Barchuk AR, Behura SK, Bera AN, Berenbaum MR, Bertossa RC, Bitondi MM, Bordenstein SR, Bork P, Bornberg- Bauer E, Brunain M, Cazzamali G, Chaboub L, Chacko J, Chavez D, Childers CP, Choi JH, Clark ME, Claudianos C, Clinton RA, Cree AG, Cristino AS, Dang PM, Darby AC, de Graaf DC, Devreese B, Dinh HH, Edwards R, Elango N, Elhaik E, Ermolaeva O, Evans JD, Foret S, Fowler GR, Gerlach D, Gibson JD, Gilbert DG, Graur D, Gründer S, Hagen DE, Han Y, Hauser F, Hultmark D, Hunter HC 4th, Hurst GD, Jhangian SN, Jiang H, Johnson RM, Jones AK, Junier T, Kadowaki T, Kamping A, Kapustin Y, Kechavarzi B, Kim J, Kim J, Kiryutin B, Koevoets T, Kovar CL, Kriventseva EV, Kucharski R, Lee H, Lee SL, Lees K, Lewis LR, Loehlin DW, Logsdon JM Jr, Lopez JA, Lozado RJ, Maglott D, Maleszka R, Mayampurath A, Mazur DJ, McClure MA, Moore AD, Morgan MB, Muller J, Munoz-Torres MC, Muzny DM, Nazareth LV, Neupert S, Nguyen NB, Nunes FM, Oakeshott JG, Okwuonu GO, Pannebakker BA, Pejaver VR, Peng Z, Pratt SC, Predel R, Pu LL, Ranson H, Raychoudhury R, Rechtsteiner A, Reese JT, Reid JG, Riddle M, Robertson HM, Romero-Severson J, Rosenberg M, Sackton TB, Sattelle DB, Schlüns H, Schmitt T, Schneider M, Schüler A, Schurko AM, Shuker DM, Simões ZL, Sinha S, Smith Z, Solovyev V, Souvorov A, Springauf A, Stafflinger E, Stage DE, Stanke M, Tanaka Y, Telschow A, Trent C, Vattathil S, Verhulst EC, Viljakainen L, Wanner KW, Waterhouse RM, Whitfield JB, Wilkes TE, Williamson M, Willis JH, Wolschin F, Wyder S, Yamada T, Yi SV, Zecher CN, Zhang L, Gibbs RA.
    Science. 2010 Jan 15;327(5963):343-8.