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1.

Germline predisposition to pediatric Ewing sarcoma is characterized by inherited pathogenic variants in DNA damage repair genes.

Gillani, Riaz; Camp, Sabrina Y; Han, Seunghun; Jones, Jill K; Chu, Hoyin; O'Brien, Schuyler; Young, Erin L; Hayes, Lucy; Mitchell, Gareth; Fowler, Trent; Gusev, Alexander; Kamihara, Junne; Janeway, Katherine A; Schiffman, Joshua D; Crompton, Brian D; AlDubayan, Saud H; Van Allen, Eliezer M.

Am J Hum Genet ; 109(6): 1026-1037, 2022 06 02.

Artículo en Inglés | MEDLINE | ID: mdl-35512711

2.

TP53 germline pathogenic variant frequency in anaplastic rhabdomyosarcoma: A Children's Oncology Group report.

Fair, Douglas; Maese, Luke; Chi, Yueh-Yun; Li, Minjie; Hawkins, Douglas S; Venkatramani, Rajkumar; Rudzinski, Erin; Parham, David; Teot, Lisa; Malkin, David; Plon, Sharon E; Li, He; Sabo, Aniko; Lupo, Philip J; Schiffman, Joshua D.

Pediatr Blood Cancer ; : e30413, 2023 May 17.

Artículo en Inglés | MEDLINE | ID: mdl-37194615

3.

Elephant Genomes Reveal Accelerated Evolution in Mechanisms Underlying Disease Defenses.

Tollis, Marc; Ferris, Elliott; Campbell, Michael S; Harris, Valerie K; Rupp, Shawn M; Harrison, Tara M; Kiso, Wendy K; Schmitt, Dennis L; Garner, Michael M; Aktipis, Christina Athena; Maley, Carlo C; Boddy, Amy M; Yandell, Mark; Gregg, Christopher; Schiffman, Joshua D; Abegglen, Lisa M.

Mol Biol Evol ; 38(9): 3606-3620, 2021 08 23.

Artículo en Inglés | MEDLINE | ID: mdl-33944920

4.

Neutrophil extracellular traps contribute to immunothrombosis in COVID-19 acute respiratory distress syndrome.

Middleton, Elizabeth A; He, Xue-Yan; Denorme, Frederik; Campbell, Robert A; Ng, David; Salvatore, Steven P; Mostyka, Maria; Baxter-Stoltzfus, Amelia; Borczuk, Alain C; Loda, Massimo; Cody, Mark J; Manne, Bhanu Kanth; Portier, Irina; Harris, Estelle S; Petrey, Aaron C; Beswick, Ellen J; Caulin, Aleah F; Iovino, Anthony; Abegglen, Lisa M; Weyrich, Andrew S; Rondina, Matthew T; Egeblad, Mikala; Schiffman, Joshua D; Yost, Christian Con.

Blood ; 136(10): 1169-1179, 2020 09 03.

Artículo en Inglés | MEDLINE | ID: mdl-32597954

5.

COVID-19 and Sepsis Are Associated With Different Abnormalities in Plasma Procoagulant and Fibrinolytic Activity.

Bouck, Emma G; Denorme, Frederik; Holle, Lori A; Middelton, Elizabeth A; Blair, Antoinette M; de Laat, Bas; Schiffman, Joshua D; Yost, Christian Con; Rondina, Matthew T; Wolberg, Alisa S; Campbell, Robert A.

Arterioscler Thromb Vasc Biol ; 41(1): 401-414, 2021 01.

Artículo en Inglés | MEDLINE | ID: mdl-33196292

6.

Comparative international incidence of Ewing sarcoma 1988 to 2012.

Spector, Logan G; Hubbard, Aubrey K; Diessner, Brandon J; Machiela, Mitchell J; Webber, Beau R; Schiffman, Joshua D.

Int J Cancer ; 149(5): 1054-1066, 2021 09 01.

Artículo en Inglés | MEDLINE | ID: mdl-33961701

7.

ATM and ATR Activation Through Crosstalk Between DNA Damage Response Pathways.

Fedak, Elizabeth A; Adler, Frederick R; Abegglen, Lisa M; Schiffman, Joshua D.

Bull Math Biol ; 83(4): 38, 2021 03 11.

Artículo en Inglés | MEDLINE | ID: mdl-33704589

8.

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.

Kaphingst, Kimberly A; Kohlmann, Wendy; Chambers, Rachelle Lorenz; Goodman, Melody S; Bradshaw, Richard; Chan, Priscilla A; Chavez-Yenter, Daniel; Colonna, Sarah V; Espinel, Whitney F; Everett, Jessica N; Gammon, Amanda; Goldberg, Eric R; Gonzalez, Javier; Hagerty, Kelsi J; Hess, Rachel; Kehoe, Kelsey; Kessler, Cecilia; Kimball, Kadyn E; Loomis, Shane; Martinez, Tiffany R; Monahan, Rachel; Schiffman, Joshua D; Temares, Dani; Tobik, Katie; Wetter, David W; Mann, Devin M; Kawamoto, Kensaku; Del Fiol, Guilherme; Buys, Saundra S; Ginsburg, Ophira.

BMC Health Serv Res ; 21(1): 542, 2021 Jun 02.

Artículo en Inglés | MEDLINE | ID: mdl-34078380

9.

A thematic analysis of health information technology use among cancer genetic counselors.

Allen, Caitlin G; Ritchie, Jordon B; Morrison, Heath; Lauzon, Steven D; Nichols, Michelle; Schiffman, Joshua D; Hughes Halbert, Chanita; Welch, Brandon M.

J Genet Couns ; 30(1): 170-179, 2021 02.

Artículo en Inglés | MEDLINE | ID: mdl-32643297

10.

Evaluation and comparison of hereditary Cancer guidelines in the population.

Ritchie, Jordon B; Bellcross, Cecelia; Allen, Caitlin G; Frey, Lewis; Morrison, Heath; Schiffman, Joshua D; Welch, Brandon M.

Hered Cancer Clin Pract ; 19(1): 31, 2021 Jul 17.

Artículo en Inglés | MEDLINE | ID: mdl-34274008

11.

Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.

Fortuno, Cristina; Mester, Jessica; Pesaran, Tina; Weitzel, Jeffrey N; Dolinsky, Jill; Yussuf, Amal; McGoldrick, Kelly; Garber, Judy E; Savage, Sharon A; Khincha, Payal P; Gareth Evans, D; Achatz, Maria Isabel; Nichols, Kim E; Maxwell, Kara N; Schiffman, Joshua D; Sandoval, Renata; James, Paul A; Spurdle, Amanda B.

Hum Mutat ; 41(9): 1555-1562, 2020 09.

Artículo en Inglés | MEDLINE | ID: mdl-32485079

12.

Cost-effectiveness of early cancer surveillance for patients with Li-Fraumeni syndrome.

Tak, Casey R; Biltaji, Eman; Kohlmann, Wendy; Maese, Luke; Hainaut, Pierre; Villani, Anita; Malkin, David; Sherwin, Catherine M T; Brixner, Diana I; Schiffman, Joshua D.

Pediatr Blood Cancer ; 66(5): e27629, 2019 05.

Artículo en Inglés | MEDLINE | ID: mdl-30719841

13.

Melanoma risk assessment based on relatives' age at diagnosis.

Wu, Yelena P; Kohlmann, Wendy; Curtin, Karen; Yu, Zhe; Hanson, Heidi A; Hashibe, Mia; Parsons, Bridget G; Wong, Jathine; Schiffman, Joshua D; Grossman, Douglas; Leachman, Sancy A.

Cancer Causes Control ; 29(2): 193-199, 2018 02.

Artículo en Inglés | MEDLINE | ID: mdl-29243179

14.

Discussing and managing hematologic germ line variants.

Kohlmann, Wendy; Schiffman, Joshua D.

Blood ; 128(21): 2497-2503, 2016 11 24.

Artículo en Inglés | MEDLINE | ID: mdl-27881370

15.

Racial/ethnic disparities and incidence of malignant peripheral nerve sheath tumors: results from the Surveillance, Epidemiology, and End Results Program, 2000-2014.

Peckham-Gregory, Erin C; Montenegro, Roberto E; Stevenson, David A; Viskochil, David H; Scheurer, Michael E; Lupo, Philip J; Schiffman, Joshua D.

J Neurooncol ; 139(1): 69-75, 2018 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-29663170

16.

An overview of disparities in childhood cancer: Report on the Inaugural Symposium on Childhood Cancer Health Disparities, Houston, Texas, 2016.

Scheurer, Michael E; Lupo, Philip J; Schüz, Joachim; Spector, Logan G; Wiemels, Joseph L; Aplenc, Richard; Gramatges, M Monica; Schiffman, Joshua D; Pombo-de-Oliveira, Maria S; Yang, Jun J; Heck, Julia E; Metayer, Catherine; Orjuela-Grimm, Manuela A; Bona, Kira; Aristizabal, Paula; Austin, Mary T; Rabin, Karen R; Russell, Heidi V; Poplack, David G.

Pediatr Hematol Oncol ; 35(2): 95-110, 2018 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-29737912

17.

Genomic characterization of pediatric B-lymphoblastic lymphoma and B-lymphoblastic leukemia using formalin-fixed tissues.

Meyer, Julia A; Zhou, Delu; Mason, Clinton C; Downie, Jonathan M; Rodic, Vladimir; Abromowitch, Minnie; Wistinghausen, Birte; Termuhlen, Amanda M; Angiolillo, Anne L; Perkins, Sherrie L; Lones, Mark A; Barnette, Phillip; Schiffman, Joshua D; Miles, Rodney R.

Pediatr Blood Cancer ; 64(7)2017 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-27957801

18.

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.

Villani, Anita; Shore, Ari; Wasserman, Jonathan D; Stephens, Derek; Kim, Raymond H; Druker, Harriet; Gallinger, Bailey; Naumer, Anne; Kohlmann, Wendy; Novokmet, Ana; Tabori, Uri; Tijerin, Marta; Greer, Mary-Louise C; Finlay, Jonathan L; Schiffman, Joshua D; Malkin, David.

Lancet Oncol ; 17(9): 1295-305, 2016 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-27501770

19.

Monogenic and polygenic determinants of sarcoma risk: an international genetic study.

Ballinger, Mandy L; Goode, David L; Ray-Coquard, Isabelle; James, Paul A; Mitchell, Gillian; Niedermayr, Eveline; Puri, Ajay; Schiffman, Joshua D; Dite, Gillian S; Cipponi, Arcadi; Maki, Robert G; Brohl, Andrew S; Myklebost, Ola; Stratford, Eva W; Lorenz, Susanne; Ahn, Sung-Min; Ahn, Jin-Hee; Kim, Jeong Eun; Shanley, Sue; Beshay, Victoria; Randall, Robert Lor; Judson, Ian; Seddon, Beatrice; Campbell, Ian G; Young, Mary-Anne; Sarin, Rajiv; Blay, Jean-Yves; O'Donoghue, Seán I; Thomas, David M.

Lancet Oncol ; 17(9): 1261-71, 2016 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-27498913

20.

Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1.

Braddock, Stephen R; South, Sarah T; Schiffman, Joshua D; Longhurst, Maria; Rowe, Leslie R; Carey, John C.

Am J Med Genet A ; 170(10): 2580-6, 2016 10.

Artículo en Inglés | MEDLINE | ID: mdl-27549381

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