Selected Publications
· Newman S, Nakitandwe J, Kesserwan CA, Azzato EM, Wheeler DA, Rusch M, Shurtleff S, Hedges DJ, Hamilton KV, Foy SG, Edmonson MN, Thrasher A, Bahrami A, Orr BA, Klco JM, Gu J, Harrison LW, Wang L, Clay MR, Ouma A, Silkov A, Liu Y, Zhang Z, Liu Y, Brady SW, Zhou X, Chang TC, Pande M, Davis E, Becksfort J, Patel A, Wilkinson MR, Rahbarinia D, Kubal M, Maciaszek JL, Pastor V, Knight J, Gout AM, Wang J, Gu Z, Mullighan CG, McGee RB, Quinn EA, Nuccio R, Mostafavi R, Gerhardt EL, Taylor LM, Valdez JM, Hines-Dowell SJ, Pappo AS, Robinson G, Johnson LM, Pui CH, Ellison DW, Downing JR, Zhang J, Nichols KE. Genomes for Kids: The scope of pathogenic mutations in pediatric cancer revealed by comprehensive DNA and RNA sequencing. Cancer Discov Jul 23, 2021.
Pinto EM, Maxwell KN, Halalsheh H, Phillips A, Powers J, MacFarland S, Walsh MF, Breen K, Formiga MN, Kriwacki R, Nichols KE, Mostafavi R, Wang J, Clay MR, Rodriguez-Galindo C, Ribeiro RC, Zambetti GP. Clinical and Functional Significance of TP53 Exon 4-Intron 4 Splice Junction Variants. Mol Cancer Res 20(2):207-216, 2022. PMID: 34675114; PMCID: PMC8816887
NICUSeq Study Group, Krantz ID, Medne L, Weatherly JM, Wild KT, Biswas S, Devkota B, Hartman T, Brunelli L, Fishler KP, Abdul-Rahman O, Euteneuer JC, Hoover D, Dimmock D, Cleary J, Farnaes L, Knight J, Schwarz AJ, Vargas-Shiraishi OM, Wigby K, Zadeh N, Shinawi M, Wambach JA, Baldridge D, Cole FS, Wegner DJ, Urraca N, Holtrop S, Mostafavi R, Mroczkowski HJ, Pivnick EK, Ward JC, Talati A, Brown CW, Belmont JW, Ortega JL, Robinson KD, Brocklehurst WT, Perry DL, Ajay SS, Hagelstrom RT, Bennett M, Rajan V, Taft RJ. Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial. JAMA Pediatr 175(12):1218-1226, 2021. doi: 10.1001/jamapediatrics.2021.3496. Erratum in: JAMA Pediatr 175(12):1295, 2021. PMID: 34570182; PMCID: PMC8477301
Sakaria RP, Mostafavi R, Miller S, Ward JC, Pivnick EK, Talati AJ. Kagami-Ogata Syndrome: Case Series and Review of Literature. AJP Rep 11(2):e65-e75, 2021. PMID: 34055463; PMCID: PMC8159623
Upadhyaya SA, Robinson GW, Onar-Thomas A, Orr BA, Johann P, Wu G, Billups CA, Tatevossian RG, Dhanda SK, Srinivasan A, Broniscer A, Qaddoumi I, Vinitsky A, Armstrong GT, Bendel AE, Hassall T, Partap S, Fisher PG, Crawford JR, Chintagumpala M, Bouffet E, Gururangan S, Mostafavi R, Sanders RP, Klimo P Jr, Patay Z, Indelicato DJ, Nichols KE, Boop FA, Merchant TE, Kool M, Ellison DW, Gajjar A. Relevance of Molecular Groups in Children with Newly Diagnosed Atypical Teratoid Rhabdoid Tumor: Results from Prospective St. Jude Multi-institutional Trials. Clin Cancer Res 27(10):2879-2889, 2021. PMID: 33737307; PMCID: PMC8127412
Murray A, McGee RB, Mostafavi R, Wang X, Lu Z, Valdez J, Terao M, Nichols KE. Creating a cancer genomics curriculum for pediatric hematology-oncology fellows: a national needs assessment. Cancer Med Feb 23, 2021. doi: 10.1002/cam4.3787. Epub ahead of print. PMID: 33624449
Barrie ES, Overwater E, van Haelst MM, Motazacker MM, Truxal KV, Crist E, Mostafavi R, Pivnick EK, Choudhri AF, Narumanchi T, Castelluccio V, Walsh LE, Garganta C, Gastier-Foster JM. Expanding the spectrum of CEP55-associated disease to viable phenotypes. American journal of medical genetics Part A;182(5):1201–1208, 2020. https://doi.org/10.1002/ajmg.a.61512
Wilson CL, Wang Z, Liu Q, Ehrhardt MJ, Mostafavi R, Easton J, Mulder H, Hedges DJ, Wang S, Rusch M, Edmonson M, Levy S, Lanctot JQ, Currie K, Lear M, Patel A, Sapkota Y, Brooke RJ, Moon W, Chang TC, Chen W, Kesserwan CA, Wu G, Nichols KE, Hudson MM, Zhang J, Robison LL, Yasui Y. Estimated number of adult survivors o childhood cancer in United States with cancer-predisposing germline variants. Pediatr Blood Cancer. 2019 Nov 17: e28047.
Maciaszek, JL., Oak, N., Chen, W., Hamilton, KV., McGee, RB., Nuccio, R., Mostafavi, R., Hines-Dowell, S., Harrison, L., Taylor, L., Gerhardt, EL., Ouma, A., Edmonson, MN., Patel, A., Nakitandwe, J., Pappo, AS., Azzato, EM., Shurtleff, SA., Ellison, DW., Downing, JR., Hudson, MM., Robison, LL., Santana, V., Newman, S., Zhang, J., Wang, Z., Wu, G., Nichols, KE., Kesserwan, CA., Enrichment of germline RECQL4 loss-of-function variants in pediatric cancer. Cold Spring Harbor Molecular Case Studies, 5, a004218, 2019.
Zweier M, Begemann A, McWalter K, Cho MT, Abela L, Banka S, Behring B, Berger A, Brown CW, Carneiro M, Chen J, Cooper GM; Deciphering Developmental Disorders (DDD) Study, Finnila CR, Guillen Sacoto MJ, Henderson A, Hüffmeier U, Joset P, Kerr B, Lesca G, Leszinski GS, McDermott JH, Meltzer MR, Monaghan KG, Mostafavi R, Õunap K, Plecko B, Powis Z, Purcarin G, Reimand T, Riedhammer KM, Schreiber JM, Sirsi D, Wierenga KJ, Wojcik MH, Papuc SM, Steindl K, Sticht H, Rauch A: Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Eur J Hum Genet. 2019 May; 27(5): 747-759.
Knight S, VanHouwelingen L, Cervi D, Clay MR, Corkins M, Hines-Dowell S, Hamilton KV, Mostafavi R, Ward J, Furman WL, Murphy AJ. Genitopatellar syndrome and neuroblastoma: The multidisciplinary management of a previously unreported association. Pediatr Blood Cancer. 2018 Dec; 65(12):e27373.
Gambin T, Yuan B, Bi W, Coban-Akdemir Z, Liu P, Rosenfeld J, Pursley A,. Nagamani S, Marom R, Golla S, Dengle L, Petrie H, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao H, Hannele K, Brown CW, Urraca-Gutierrez N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck A, Immken L, Elton LE, Varghese S, Buchanan E, Schaaf CP, Walkiewicz M, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Yang Y, Breman AM, Smith JL, Cheung S, Lupski, JR, Patel A, Shaw CA, Stankiewicz P: Identification of novel disease genes from de novo exonic copy-number variants. Genome Medicine. Genome Med. 2017 Sep 21; 9(1):83. doi: 10.1186/s13073-017-0472-7.
Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U: Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. Am J Hum Genet 2015 Sep 3; 97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001.
Last update: March 2022