Selected Publications
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: November 2019