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Journal Article

1. Gillani R, Camp SY, Han S, Jones JK, Chu H, OBrien S, Young EL, Hayes L, Mitchell G, Fowler T, Gusev A, Kamihara J, Janeway KA, Schiffman JD, Crompton BD, AlDubayan SH, Van Allen EM (2022). Germline predisposition to pediatric Ewing sarcoma is characterized by inherited pathogenic variants in DNA damage repair genes. Am J Hum Genet. ()
2. Ritchie JB, Frey LJ, Lamy JB, Bellcross C, Morrison H, Schiffman JD, Welch BM (2022). Automated Clinical Practice Guideline Recommendations for Hereditary Cancer Risk Using Chatbots and Ontologies: System Description. JMIR Cancer, 8(1), e29289. ()
3. Ritchie JB, Welch BM, Allen CG, Frey LJ, Morrison H, Schiffman JD, Alekseyenko AV, Dean B, Hughes Halbert C, Bellcross C (2021). Comparison of a Cancer Family History Collection and Risk Assessment Tool - ItRunsInMyFamily - with Risk Assessment by Health-Care Professionals. Public Health Genomics, 1-9. ()
4. Maxwell KN, Cheng HH, Powers J, Gulati R, Ledet EM, Morrison C, Le A, Hausler R, Stopfer J, Hyman S, Kohlmann W, Naumer A, Vagher J, Greenberg SE, Naylor L, Laurino M, Konnick EQ, Shirts BH, AlDubayan SH, Van Allen EM, Nguyen B, Vijai J, Abida W, Carlo MI, Dubard-Gault M, Lee DJ, Maese LD, Mandelker D, Montgomery B, Morris MJ, Nicolosi P, Nussbaum RL, Schwartz LE, Stadler Z, Garber JE, Offit K, Schiffman JD, Nelson PS, Sartor O, Walsh MF, Pritchard CC (2021). Inherited TP53 Variants and Risk of Prostate Cancer. Eur Urol, 81, 243-250. ()
5. Mangum DS, Meyer JA, Mason CC, Shams S, Maese LD, Gardiner JD, Downie JM, Pei D, Cheng C, Gleason A, Luo M, Pui CH, Aplenc R, Hunger SP, Loh M, Greaves M, Trede N, Raetz E, Frazer JK, Mullighan CG, Engel ME, Miles RR, Rabin KR, Schiffman JD (2022). Association of Combined Focal 22q11.22 Deletion and IKZF1 Alterations With Outcomes in Childhood Acute Lymphoblastic Leukemia. JAMA Oncol, 7(10), 1521-1528. ()
6. Spector LG, Hubbard AK, Diessner BJ, Machiela MJ, Webber BR, Schiffman JD (2021). Comparative international incidence of Ewing sarcoma 1988 to 2012. Int J Cancer, 149(5), 1054-1066. ()
7. Tollis M, Ferris E, Campbell MS, Harris VK, Rupp SM, Harrison TM, Kiso WK, Schmitt DL, Garner MM, Aktipis CA, Maley CC, Boddy AM, Yandell M, Gregg C, Schiffman JD, Abegglen LM (2021). Elephant Genomes Reveal Accelerated Evolution in Mechanisms Underlying Disease Defenses. Mol Biol Evol, 38(9), 3606-3620. ()
8. Ritchie JB, Bellcross C, Allen CG, Frey L, Morrison H, Schiffman JD, Welch BM (2021). Evaluation and comparison of hereditary Cancer guidelines in the population. Hered Cancer Clin Pract, 19(1), 31. ()
9. Pedersen BS, Brown JM, Dashnow H, Wallace AD, Velinder M, Tristani-Firouzi M, Schiffman JD, Tvrdik T, Mao R, Best DH, Bayrak-Toydemir P, Quinlan AR (2021). Effective variant filtering and expected candidate variant yield in studies of rare human disease. NPJ Genom Med, 6(1), 60. ()
10. Li H, Sisoudiya SD, Martin-Giacalone BA, Khayat MM, Dugan-Perez S, Marquez-Do DA, Scheurer ME, Muzny D, Boerwinkle E, Gibbs RA, Chi YY, Barkauskas DA, Lo T, Hall D, Stewart DR, Schiffman JD, Skapek SX, Hawkins DS, Plon SE, Sabo A, Lupo PJ (2020). Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. J Natl Cancer Inst, 113(7), 875-883. ()
11. Kaphingst KA, Kohlmann W, Chambers RL, Goodman MS, Bradshaw R, Chan PA, Chavez-Yenter D, Colonna SV, Espinel WF, Everett JN, Gammon A, Goldberg ER, Gonzalez J, Hagerty KJ, Hess R, Kehoe K, Kessler C, Kimball KE, Loomis S, Martinez TR, Monahan R, Schiffman JD, Temares D, Tobik K, Wetter DW, Mann DM, Kawamoto K, Del Fiol G, Buys SS, Ginsburg O, BRIDGE research team (2021). Comparing models of delivery for cancer genetics services among patients receiving primary care who meet criteria for genetic evaluation in two healthcare systems: BRIDGE randomized controlled trial. BMC Health Serv Res, 21(1), 542. ()
12. Fedak EA, Adler FR, Abegglen LM, Schiffman JD (2021). ATM and ATR Activation Through Crosstalk Between DNA Damage Response Pathways. Bull Math Biol, 83(4), 38. ()
13. Pearson VR, Bosse JB, Koyuncu OO, Scherer J, Toruno C, Robinson R, Abegglen LM, Schiffman JD, Enquist LW, Rall GF (2021). Identification of African Elephant Polyomavirus in wild elephants and the creation of a vector expressing its viral tumor antigens to transform elephant primary cells. PLoS One, 16(2), e0244334. ()
14. Allen CG, Ritchie JB, Morrison H, Lauzon SD, Nichols M, Schiffman JD, Hughes Halbert C, Welch BM (2020). A thematic analysis of health information technology use among cancer genetic counselors. J Genet Couns, 30(1), 170-179. ()
15. Kim J, Light N, Subasri V, Young EL, Wegman-Ostrosky T, Barkauskas DA, Hall D, Lupo PJ, Patidar R, Maese LD, Jones K, Wang M, Tavtigian SV, Wu D, Shlien A, Telfer F, Goldenberg A, Skapek SX, Wei JS, Wen X, Catchpoole D, Hawkins DS, Schiffman JD, Khan J, Malkin D, Stewart DR (2021). Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma. JCO Precis Oncol, 5. ()
16. Bouck EG, Denorme F, Holle LA, Middelton EA, Blair AM, de Laat B, Schiffman JD, Yost CC, Rondina MT, Wolberg AS, Campbell RA (2020). COVID-19 and Sepsis Are Associated With Different Abnormalities in Plasma Procoagulant and Fibrinolytic Activity. Arterioscler Thromb Vasc Biol, 41(1), 401-414. ()
17. Taber P, Ghani P, Schiffman JD, Kohlmann W, Hess R, Chidambaram V, Kawamoto K, Waller RG, Borbolla D, Del Fiol G, Weir C (2020). Physicians' strategies for using family history data: having the data is not the same as using the data. JAMIA Open, 3(3), 378-385. ()
18. Middleton EA, He XY, Denorme F, Campbell RA, Ng D, Salvatore SP, Mostyka M, Baxter-Stoltzfus A, Borczuk AC, Loda M, Cody MJ, Manne BK, Portier I, Harris ES, Petrey AC, Beswick EJ, Caulin AF, Iovino A, Abegglen LM, Weyrich AS, Rondina MT, Egeblad M, Schiffman JD, Yost CC (2020). Neutrophil extracellular traps contribute to immunothrombosis in COVID-19 acute respiratory distress syndrome. Blood, 136(10), 1169-1179. ()
19. Fortuno C, Mester J, Pesaran T, Weitzel JN, Dolinsky J, Yussuf A, McGoldrick K, Garber JE, Savage SA, Khincha PP, Gareth Evans D, Achatz MI, Nichols KE, Maxwell KN, Schiffman JD, Sandoval R, Li-Fraumeni Exploration LIFE Consortium, James PA, Spurdle AB (2020). Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines. Hum Mutat, 41(9), 1555-1562. ()
20. Welch BM, Allen CG, Ritchie JB, Morrison H, Hughes-Halbert C, Schiffman JD (2020). Using a Chatbot to Assess Hereditary Cancer Risk. JCO Clin Cancer Inform, 4, 787-793. ()
21. Ritchie JB, Allen CG, Morrison H, Nichols M, Lauzon SD, Schiffman JD, Hughes Halbert C, Welch BM (2020). Utilization of health information technology among cancer genetic counselors. Mol Genet Genomic Med, 8(8), e1315. ()
22. Boddy AM, Abegglen LM, Aktipis A, Schiffman JD, Maley CC, Witte C (2020). Does placental invasiveness lead to higher rates of malignant transformation in mammals?: Response to: 'Available data suggests positive relationship between placental invasion an malignancy'. Evol Med Public Health, 2020(1), 215-216. ()
23. Boddy AM, Abegglen LM, Pessier AP, Aktipis A, Schiffman JD, Maley CC, Witte C (2020). Lifetime cancer prevalence and life history traits in mammals. Evol Med Public Health, 2020(1), 187-195. ()
24. Mai PL, Sand SR, Saha N, Oberti M, Dolafi T, DiGianni L, Root EJ, Kong X, Bremer RC, Santiago KM, Bojadzieva J, Barley D, Novokmet A, Ketchum KA, Nguyen N, Jacob S, Nichols KE, Kratz CP, Schiffman JD, Evans DG, Achatz MI, Strong LC, Garber JE, Ladwa SA, Malkin D, Weitzel JN (2020). Li-Fraumeni Exploration Consortium Data Coordinating Center: Building an Interactive Web-Based Resource for Collaborative International Cancer Epidemiology Research for a Rare Condition. Cancer Epidemiol Biomarkers Prev, 29(5), 927-935. ()
25. Del Fiol G, Kohlmann W, Bradshaw RL, Weir CR, Flynn M, Hess R, Schiffman JD, Nanjo C, Kawamoto K (2020). Standards-Based Clinical Decision Support Platform to Manage Patients Who Meet Guideline-Based Criteria for Genetic Evaluation of Familial Cancer. JCO Clin Cancer Inform, 4, 1-9. ()
26. Abbott D, OBrien S, Farnham JM, Young EL, Yap J, Jones K, Lessnick SL, Randall RL, Schiffman JD, Cannon-Albright LA (2019). Increased risk for other cancers in individuals with Ewing sarcoma and their relatives. Cancer Med, 8(18), 7924-7930. ()
27. Lupo PJ, Schraw JM, Desrosiers TA, Nembhard WN, Langlois PH, Canfield MA, Copeland G, Meyer RE, Brown AL, Chambers TM, Sok P, Danysh HE, Carozza SE, Sisoudiya SD, Hilsenbeck SG, Janitz AE, Oster ME, Scheuerle AE, Schiffman JD, Luo C, Mian A, Mueller BA, Huff CD, Rasmussen SA, Scheurer ME, Plon SE (2019). Association Between Birth Defects and Cancer Risk Among Children and Adolescents in a Population-Based Assessment of 10 Million Live Births. JAMA Oncol, 5(8), 1150-1158. ()
28. Mowery DL, Kawamoto K, Bradshaw R, Kohlmann W, Schiffman JD, Weir C, Borbolla D, Chapman WW, Del Fiol G (2019). Determining Onset for Familial Breast and Colorectal Cancer from Family History Comments in the Electronic Health Record. AMIA Jt Summits Transl Sci Proc, 2019, 173-181. ()
29. Tak CR, Biltaji E, Kohlmann W, Maese L, Hainaut P, Villani A, Malkin D, Sherwin CMT, Brixner DI, Schiffman JD (2019). Cost-effectiveness of early cancer surveillance for patients with Li-Fraumeni syndrome. Pediatr Blood Cancer, 66(5), e27629. ()
30. Colonna S, Curtin K, Johnson E, Kohlmann W, Wright J, Kirchhoff A, Tavtigian S, Schiffman J (2019). Family History of Breast Cancer Associated with Breast Cancer in Survivors of Hodgkin Lymphoma. Int J Cancer Clin Res, 6(1). ()
31. Dubard Gault M, Mandelker D, DeLair D, Stewart CR, Kemel Y, Sheehan MR, Siegel B, Kennedy J, Marcell V, Arnold A, Al-Ahmadie H, Modak S, Robson M, Shukla N, Roberts S, Vijai J, Topka S, Kentsis A, Cadoo K, Carlo M, Latham Schwark A, Reznik E, Dinatale R, Hechtman J, Borras Flores E, Jairam S, Yang C, Li Y, Bayraktar EC, Ceyhan-Birsoy O, Zhang L, Kohlman W, Schiffman J, Stadler Z, Birsoy K, Kung A, Offit K, Walsh MF (2018). Germline SDHA mutations in children and adults with cancer. Cold Spring Harb Mol Case Stud, 4(4). ()
32. Meyer JA, Zhou D, Mason CC, Downie JM, Rodic V, Abromowitch M, Wistinghausen B, Termuhlen AM, Angiolillo AL, Perkins SL, Lones MA, Barnette P, Schiffman JD, Miles RR (2016). Genomic characterization of pediatric B-lymphoblastic lymphoma and B-lymphoblastic leukemia using formalin-fixed tissues. Pediatr Blood Cancer, 64(7). ()
33. Weldon CB, Madenci AL, Boikos SA, Janeway KA, George S, von Mehren M, Pappo AS, Schiffman JD, Wright J, Trent JC, Pacak K, Stratakis CA, Helman LJ, La Quaglia MP (2016). Surgical Management of Wild-Type Gastrointestinal Stromal Tumors: A Report From the National Institutes of Health Pediatric and Wildtype GIST Clinic. J Clin Oncol, 35(5), 523-528. ()
34. Aziz A, Pflieger L, OConnell N, Schiffman J, Welch BM (2017). Compatibility of Family History Cancer Guidelines With Meaningful Use Standards. JCO Clin Cancer Inform, 1. ()
35. Welch BM, OConnell NS, Qanungo S, Halbert-Hughes C, Schiffman JD (2015). Collecting Family Health History using an Online Social Network: a Nationwide Survey among Potential Users. AMIA Annu Symp Proc, 2015, 1316-25. ()
36. Jones KB, Schiffman JD, Kohlmann W, Randall RL, Lessnick SL, Cannon-Albright LA (2011). Complex genotype sarcomas display familial inheritance independent of known cancer predisposition syndromes. Cancer Epidemiol Biomarkers Prev, 20(5), 751-7. ()
37. Meeker ND, Yang JJ, Schiffman JD (2010). Pharmacogenomics of pediatric acute lymphoblastic leukemia. Expert Opin Pharmacother, 11(10), 1621-32. ()
38. Vasconcelos GM, Kang M, Pombo-de-Oliveira MS, Schiffman JD, Lorey F, Buffler P, Wiemels JL (2008). Adenovirus detection in Guthrie cards from paediatric leukaemia cases and controls. Br J Cancer, 99(10), 1668-72. ()

Other

1. Schienda J, Church AJ, Corson LB, Decker B, Clinton CM, Manning DK, Imamovic-Tuco A, Reidy D, Strand GR, Applebaum MA, Bagatell R, DuBois SG, Glade-Bender JL, Kang W, Kim A, Laetsch TW, Macy ME, Maese L, Pinto N, Sabnis AJ, Schiffman JD, Colace SI, Volchenboum SL, Weiser DA, Nowak JA, Lindeman NI, Janeway KA, Crompton BD, Kamihara J (2021). Germline Sequencing Improves Tumor-Only Sequencing Interpretation in a Precision Genomic Study of Patients With Pediatric Solid Tumor. JCO Precis Oncol (5). United States. ()

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