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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: ben ami t. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
NUT Carcinoma in Children and Adolescents: The Expert European Standard Clinical Practice Harmonized Recommendations.
Lemelle L, Flaadt T, Fresneau B, Moya-Plana A, Timmermann B, Roganovic J, Ferrari A, Fichera G, Lauer UM, Ben-Ami T, Schneider DT, Vokuhl C, Bolle S, Fox E, DuBois SG, Rodriguez-Galindo C, Bisogno G, Surun A, Brecht IB, Orbach D. Lemelle L, et al. Among authors: ben ami t. J Pediatr Hematol Oncol. 2023 May 1;45(4):165-173. doi: 10.1097/MPH.0000000000002568. Epub 2022 Oct 10. J Pediatr Hematol Oncol. 2023. PMID: 36219702
Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.
Gilad O, Dgany O, Noy-Lotan S, Krasnov T, Yacobovich J, Rabinowicz R, Goldberg T, Kuperman AA, Abu-Quider A, Miskin H, Kapelushnik N, Mandel-Shorer N, Shimony S, Harlev D, Ben-Ami T, Adam E, Levin C, Aviner S, Elhasid R, Berger-Achituv S, Chaitman-Yerushalmi L, Kodman Y, Oniashvilli N, Hameiri-Grosman M, Izraeli S, Tamary H, Steinberg-Shemer O. Gilad O, et al. Among authors: ben ami t. Haematologica. 2022 Sep 1;107(9):2081-2095. doi: 10.3324/haematol.2021.280116. Haematologica. 2022. PMID: 35295078 Free PMC article.
Facing the challenges of very rare tumors of pediatric age: The European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) background, goals, and achievements.
Ferrari A, Schneider DT, Bisogno G, Reguerre Y, Godzinski J, Bien E, Stachowicz-Stencel T, Cecchetto G, Brennan B, Roganovic J, Ben-Ami T, Virgone C, Farinha NR, Mancini S, Orbach D, Brecht IB. Ferrari A, et al. Among authors: ben ami t. Pediatr Blood Cancer. 2021 Jun;68 Suppl 4:e28993. doi: 10.1002/pbc.28993. Pediatr Blood Cancer. 2021. PMID: 34174158
Pancreatoblastoma in children: EXPeRT/PARTNER diagnostic and therapeutic recommendations.
Bien E, Roganovic J, Krawczyk MA, Godzinski J, Orbach D, Cecchetto G, Barthlen W, Defachelles AS, Ferrari A, Weldon CB, Brecht IB, Schneider DT, Bisogno G, Kolenova A, Ben-Ami T, Martinova K, Virgone C, Stachowicz-Stencel T, Kachanov D, Reguerre Y. Bien E, et al. Among authors: ben ami t. Pediatr Blood Cancer. 2021 Jun;68 Suppl 4:e29112. doi: 10.1002/pbc.29112. Pediatr Blood Cancer. 2021. PMID: 34174157
Thymoma and thymic carcinoma in children and adolescents: The EXPeRT/PARTNER diagnostic and therapeutic recommendations.
Stachowicz-Stencel T, Synakiewicz A, Cornet M, Ferrari A, Garassino M, Masip JR, Julien R, Virgone C, Schneider DT, Brecht IB, Ben-Ami T, Bien E, Reguerre Y, Godzinski J, Bisogno G, Orbach D, Sarnacki S. Stachowicz-Stencel T, et al. Among authors: ben ami t. Pediatr Blood Cancer. 2021 Jun;68 Suppl 4:e29042. doi: 10.1002/pbc.29042. Epub 2021 Apr 21. Pediatr Blood Cancer. 2021. PMID: 33881200
Nasopharyngeal carcinoma in children and adolescents: The EXPeRT/PARTNER diagnostic and therapeutic recommendations.
Ben-Ami T, Kontny U, Surun A, Brecht IB, Almaraz RL, Dragomir M, Pourtsidis A, Casanova M, Fresneau B, Bisogno G, Schneider DT, Reguerre Y, Bien E, Stachowicz-Stencel T, Österlundh G, Wygoda M, Janssens GO, Zsiros J, Jehanno N, Brisse HJ, Gandola L, Christiansen H, Claude L, Ferrari A, Rodriguez-Galindo C, Orbach D. Ben-Ami T, et al. Pediatr Blood Cancer. 2021 Jun;68 Suppl 4:e29018. doi: 10.1002/pbc.29018. Epub 2021 Apr 12. Pediatr Blood Cancer. 2021. PMID: 33844410
88 results