Selected Publications

Ercan AB, Aronson M, Fernandez NR, Chang Y, Levine A, Liu ZA, Negm L, Edwards M, Bianchi V, Stengs L, Chung J, Al-Battashi A, Reschke A, Alex Lion, Ahmad A, Lassaletta A, Reddy AT, Al-Darraji AF, Shah AC, Van Damme A, Bendel A, Rashid A, Margol AS, Kelly BL, Pencheva B, Heald B, Lemieux-Anglin B, Crooks B, Koschmann C, Gilpin C, Porter CC, Gass D, Samuel D, Ziegler DS, Blumenthal DT, Kuo DJ, Hamideh D, Basel D, Khuong-Quang D, Stearns D, Opocher E, Carceller F, Feldman HB, Toledano H, Winer I, Scheers I, Fedorakova I, Su JM, Vengoechea J, Sterba J, Knipstein J, Hansford JR, Gonzales-Santos JR, Bhatia K, Bielamowicz KJ, Minhas K, Nichols KE, Cole KA, Penney L, Aasved Hjort M, Sabel M, Gil-da-Costa MJ, Murray MJ, Miller M, Blundell ML, Massimino M, Al-Hussaini M, Al-Jadiry MF, Comito MA, Osborn M, Link MP, Zapotocky M, Ghalibafian M, Shaheen N, Mushtaq N, Waespe N, Hijiya N, Fuentes-Bolanos N, Ahmad O, Chamdine O, Roy P, Pichurin PN, Nyman P, Pearlman R, Auer RC, Sukumaran RK, Kebudi R, Dvir R, Raphael R, Elhasid R, McGee RB, Chami R, Noss R, Tanaka R, Raskin S, Sen S, Lindhorst S, Perreault S, Caspi S, Riaz S, Constantini S, Albert S, Chaleff S, Bielack S, Chiaravalli S, Cramer SL, Roy S, Cahn S, Penna S, Hamid SA, Ghafoor T, Imam U, Larouche V, Issai VM, Foulkes WD, Lee YY, Nathan PC, Maruvka YE, Greer MC, Durno C, Shlien A, Ertl-Wagner B, Villani A, Malkin D, Hawkins C, Bouffet E, Das A, Tabori U: Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study. Lancet Oncol 25(5), May 2024.

Kim J, Vaksman Z, Egolf LE, Kaufman R, Evans JP, Conkrite KL, Danesh A, Lopez G, Randall MP, Dent MH, Farra LM, Menghani NL, Dymek M, Desai H, Hausler R, Hicks B, Auvil JG, Gerhard DS, Hakonarson H, Maxwell KN, Cole KA, Pugh TJ, Bosse KR, Khan J, Wei JS, Maris JM, Stewart DR, Diskin SJ: Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival. J Natl Cancer Inst Jan 2024.

Shapiro JA, Gaonkar KS, Savonen CL, Spielman SJ, Bethell CJ, Jin R, Rathi KS, Zhu Y, Egolf LE, Farrow BK, Miller DP, Yang Y, Koganti T, Noureen N, Koptyra MP, Duong N, Kraya AA, Kline C, Guo Y, Storm PB, Nazarian J, Mack SC, Raman P, Zheng S, Madsen PJ, Van Kuren N, Robins S, Huang X, Waanders AJ, Kim J, Hanson D, Koschmann CJ, Diskin SJ, Lulla RR, Brown MA, Wong J, Mason JL, Scolaro L, Kim MC, Xie HM, Rood BR, Cole KA, Margol AS, Vaksman Z, Kaufman RS, Heath AP, Ennis BM, Santi M, Poetsch AR, Viaene AN, Stewart DR, Foltz SM, Jain P, Zhang B, Kannan S, Prados M, Lilly JV, Mueller S, Resnick AC, Greene CS, Rokita JL, Taroni JN: OpenPBTA: An Open Pediatric Brain Tumor Atlas. Cell Genomics July 2023.

Cole KA, Ijaz H, Surrey LF, Santi M, Liu X, Minard J, Maris JM, Voss S, Reid JM,Fox E and Weigel BJ: Pediatric Phase 2 trial of a WEE1 inhibitor, adavosertib (AZD1775) and irinotecan for relapsed neuroblastoma, medulloblastoma and rhabdomyosarcoma. Cancer July 2023.

Yeo KK, Alexandrescu S, Cotter JA, Vogelzang J, Bhave V, Li MM, Ji J, Benhamida JK, Rosenblum MK, Bale TA, Bouvier N, Kaneva K, Rosenberg T, Lim Fat MJ, Ghosh H, Martinez M, Aguilera D, Smith A, Goldman S, Diamond EL, Gavrilovic I, MacDonald TJ, Wood MD, Nazemi KJ, Truong AL, Cluster A, Ligon KL, Cole K, Bi WL, Margol AS, Karajannis MA, Wright KD.: Multi-institutional study of the frequency, genomic landscape and outcome of IDH-mutant glioma in paediatrics. Neuro Oncol Jan 2023.

Stundon JL, Ijaz H, Gaonkar KS, Kaufman RS, Run J, Karras A, Vaksman Z, Kim J, Corbett RJ, Lueder MR, Miller DP, Guo Y, Santi M, Li M, Lopez G, Storm PB, Resnick AC, Waanders AJ, MacFarland SP, Stewart DR, Diskin SJ, Rokita JL, Cole KA: ALT in Pediatric High-Grade Gliomas Can Occur without ATRX Mutation and is Enriched in Patients with Pathogenic Germline MMR Variants. Neuro Oncol Jan 2023.

Coy S, Wang S, Stopka SA, Lin J, Yapp C, Ritch CC, Salhi L, Baker GJ, Rashid R, Baquer G, Regan M, Khadka P, Cole KA, Hwang J, Wen PY, Bandopadhayay P, De Raedt T, Ligon KL, Agar N, Sorger PK, Touat M, Santagata S: Single Cell Spatial Analysis Reveals the Topology of Immunomodulatory Purinergic Signaling in Glioblastoma. Nat Comm Aug 2022.

Feng X, Viaene A, Ruiz J, Schubert J, Wu J, Chen J; Kajia Cao, Fu W, Bagatell R, Fan Z, Long A, Pagliaroli L, Zhong Y, Kreiger P, Surrey L, Wertheim GB, Cole KA, M Li M, Santi M, Storm P: Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas: Expanding the scope of “CIC-rearranged” sarcoma without CIC-related fusion. Acta Neuropath July 2022.

Das A, Sudhaman S, Morgenstern D, Coblentz A, Chung J, Stone SC, Alsafwani N, Liu ZA, Karsaneh OAA, Soleimani S, Ladany H, Chen D, Zatzman M, Cabric V, Nobre L, Bianchi V, Edwards M, Sambira Nahum LC, Ercan AB, Nabbi A, Constantini S, Dvir R, Yalon-Oren M, Campino GA, Caspi S, Larouche V, Reddy A, Osborn M, Mason G, Lindhorst S, Bronsema A, Magimairajan V, Opocher E, De Mola RL, Sabel M, Frojd C, Sumerauer D, Samuel D, Cole K, Chiaravalli S, Massimino M, Tomboc P, Ziegler DS, George B, Van Damme A, Hijiya N, Gass D, McGee RB, Mordechai O, Bowers DC, Laetsch TW, Lossos A, Blumenthal DT, Sarosiek T, Yen LY, Knipstein J, Bendel A, Hoffman LM, Luna-Fineman S, Zimmermann S, Scheers I, Nichols KE, Zapotocky M, Hansford JR, Maris JM, Dirks P, Taylor MD, Kulkarni AV, Shroff M, Tsang DS, Villani A, Xu W, Aronson M, Durno C, Shlien A, Malkin D, Getz G, Maruvka YE, Ohashi PS, Hawkins C, Pugh TJ, Bouffet E, Tabori U.: Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency. Nat Med Jan 2022.

Chung J, Maruvka YE, Sudhaman S, Kelly J, Haradhvala NJ, Bianchi V, Edwards M, Forster VJ, Nunes NM, Galati MA, Komosa M, Deshmukh S, Cabric V, Davidson S, Zatzman M, Light N, Hayes R, Brunga L, Anderson ND, Ho B, Hodel KP, Siddaway R, Morrissy AS, Bowers DC, Larouche V, Bronsema A, Osborn M, Cole KA, Opocher E, Mason G, Thomas GA, George B, Ziegler DS, Lindhorst S, Vanan M, Yalon-Oren M, Reddy AT, Massimino M, Tomboc P, Van Damme A, Lossos A, Durno C, Aronson M, Morgenstern DA, Bouffet E, Huang A, Taylor MD, Villani A, Malkin D, Hawkins CE, Pursell ZF, Shlien A, Kunkel TA, Getz G, Tabori U.: DNA Polymerase and Mismatch Repair Exert Distinct Microsatellite Instability Signatures in Normal and Malignant Human Cells. Cancer Discov 11(5): 1176-1191, May 2021.