Quem Somos

Publicações dos pesquisadores do Genoma USP

(Publications by the HUG-CELL researchers)

 

2026	2025	2023	2022	2021	2020	2019	2018	2017
2016	2015	2014	2013	2012	2011
2010	2009	2008	2007	2006	2005
2004	2003	2002

 

 

2026

1. Abu Raya M, Suemoto CK, Paes VR, Leite REP, Pasqualucci CA, Naslavsky MS, Rodriguez RD, Nitrini R, Ferriolli E, Allen IE, La Joie R, Grinberg LT. Sex Differences in Amyloid Pathology by Race, Ancestry, and Apolipoprotein E ε4 in an Admixed Autopsy Sample. JAMA Neurol. 2026 Apr 1;83(4):392-401. doi: 10.1001/jamaneurol.2026.0054.

2. Albuquerque ALB, Dacoregio MI, Rodrigues CG, Bertola DR, Zattar Ribeiro PV. Real-world outcomes of vosoritide in achondroplasia: A systematic review and meta-analysis of multinational clinical evidence. Genet Med. 2026 Mar;28(3):101670. doi: 10.1016/j.gim.2025.101670. Epub 2025 Dec 19.

3. Alves Telles-Silva K, Pacheco L, Komatsu S, Chianca F, Chagas G, Cristine Martins G, Gridina M, Panchenko D, Melechco Carvalho V, G Caldini E, S Fishman V, Arkin M, Goulart E, Zatz M. FOXM1 inhibition primes terminal differentiation of human iPSC-derived hepatocytes. Cell Death Discov. 2026 Jul 8. doi: 10.1038/s41420-026-03178-9. Online ahead of print.

4. Alves-Paiva RM, Coa LL, Azevedo JT, da Silva JR, de Godoy JAP, Sielski MS, Zanetti LC, Oliveira DC, Okamoto OK, Kutner JM, Hamerschlak N, Kerbauy LN. Umbilical cord blood-derived natural killer cells as a viable and potent source for adoptive cell therapy. Cytotherapy. 2026 May;28(5):102079. doi: 10.1016/j.jcyt.2026.102079. Epub 2026 Feb

5. Boone PM, Erdin S, Mohamed A, Haghshenas S, Faour KNW, Kao E, Fu J, Auwerx C, Harripaul R, Jana B, Springer D, Hallstrom G, de Esch CEF, Denhoff E, Holmes L, Mohajeri K, Lemanski J, Kerkhof J, McConkey H, Rzasa J, McCune MJ, Levy MA, Grafstein J, Larson M, Wright Z, Beauchamp RL, Lucente D, Jamra RA, Agrawal N, Agrawal P, Andersen EF, Argilli E, Araiza R, Ballal S, Baxter MF, Bergant G, Bertsche A, Bhavsar R, Bortola DR, Bothe V, Brasch-Andersen C, Braun D, Bruel AL, Buchanan C, Burt ND, Carvalho LML, Chiriatti L, Cogne B, Collins R, Crunk A, Currall B, Delahaye-Duriez A, Delanne J, Denommé-Pichon AS, Devriendt K, Domingo A, Duncan L, Faivre L, Famularo L, Fulton A, Genetti C, Harel T, Havlovicova M, Higgs J, Houlier M, Iascone M, Immken L, Isidor B, Kaiser FJ, Karbone K, Kenna M, Khan A, Kimmig LK, Kleefstra T, Kraus EM, Krepischi ACV, Krey I, Ladda R, Lanoue L, Le Caignec C, Lewis ZK, Lima G, Lynch SA, Macek M Jr, Maier O, Maitz S, Male A, Malikova M, McKay V, Moldovan O, Monteil D, Oliveira MM, Munasinghe J, Nakamori S, Neuser S, Nizon M, Nuttle X, O'Keefe K, Orec L, Parenti I, Peterlin B, Pfundt R, Pouncey J, Radio FC, Robert L, Rodan L, Rosenberg-Fogler H, Rosenfeld JA. Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder. …See abstract for full author list ➔medRxiv [Preprint]. 2026 Feb 28:2026.02.23.26346364. doi: 10.64898/2026.02.23.26346364.Update in: Am J Hum Genet. 2026 Jul 10:S0002-9297(26)00238-7. doi: 10.1016/j.ajhg.2026.06.012. . Preprint.

6. Chatterjee S, Ishida M, Bertola DR, Agwu JC, Gaston-Massuet C, McGuffin LJ, Storr HL, Maharaj AV. Pathogenesis of Noonan Syndrome is Modulated by NOC2L, a Novel Interactor of LZTR1 Leading to Impaired P53 Signalling. J Clin Endocrinol Metab. 2026 Apr 22;111(5):1418-1430. doi: 10.1210/clinem/dgaf602.

7. Dauber A, Jorge AAL, Nilsson O, Dekkers OM, Argente J, Netchine I, Backeljauw P, Baron J, Bertola DR, Clayton P, Davies JH, Edouard T, Eggermann T, Gevers EF, Grigelioniene G, Heath KE, Jee YH, Lapunzina P, Mortier GR, Pruhova S, Storr HL, Wakeling E, Ferreira CR, Hasegawa T, Hokken-Koelega ACS, Linglart A, Luo X, Wang X, Hwa V, Gregory LC, Buonocore F, Dattani MT, Cianfarani S, Wit JM. International guideline on genetic testing of children with short stature. Eur J Endocrinol. 2026 Feb 4;194(2):R17-R36. doi: 10.1093/ejendo/lvag013.PMID: 41543979 Free article. Review.

8. de Castro MV, Guilherme JPLF, Zatz M. Case Report: Exceptional longevity in turner syndrome. Front Aging. 2026 Jun 10;7:1805342. doi: 10.3389/fragi.2026.1805342. eCollection 2026.

9. Farias de Alvarenga KA, Oliveira de Araújo J, Rezende da Silveira M, Silva NS, Coelho MR, Pimentel JA, Pereira Dos Reis A, Cappellano AM, Mançano BM, D'Almeida Costa F, Martins FD, Bellas GO, Teixeira GR, Gomy I, Gregianin LJ, Okamoto OK, Campregher PV, Camargo R, Ferman SE, Valera ET; Brazilian Committee of Precision Medicine in Pediatric Oncology (BC-PMPO) — the Brazilian Society of Pediatric Oncology (SOBOPE). Precision diagnosis and therapy for pediatric central nervous system tumors: consensus from the Brazilian Society of Pediatric Oncology (SOBOPE). Lancet Reg Health Am. 2026 Mar 2;57:101422. doi: 10.1016/j.lana.2026.101422. eCollection 2026 May.

10. Esposito J, de Souza Leite F, Barbosa IN, da Mata Martins TM, de Oliveira Olberg GG, Al Tanoury Z, Telles-Silva KA, da Silva Pardo MC, Jazedje T, Bortolin RH, Hirata MH, Pourquié O, Zatz M. iPSC-derived skeletal muscle spheroids for Duchenne Muscular Dystrophy modeling. Skelet Muscle. 2026 May 2;16(1):26. doi: 10.1186/s13395-026-00428-3.

11. Guima SES, Bischain B, Morais Gama LC, Faria AC, Lourenço T, Bueno DF, Heller D, Passos-Bueno MR, Setubal JC. The oral maternal microbiome plays a role in the development of cleft lip and palate condition in children. PeerJ. 2026 Apr 27;14:e21128. doi: 10.7717/peerj.21128. eCollection 2026.

12. Inoue Y, Tsuchida N, Kim CA, de Oliveira Stephan B, Castro MAA, Honjo RS, Bertola DR, Uchiyama Y, Hamanaka K, Fujita A, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Matsumoto N. Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability. J Hum Genet. 2026 Jan;71(1):59-62. doi: 10.1038/s10038-025-01422-1.

13. Josino R, Yokota-Moreno BY, Nóbrega IS, Silva ALTE, Moysés MBB, Ferreira GG, Branquinho MS, Branco EV, Passos-Bueno MR, Sertié AL. Guided and unguided neural organoids play complementary roles in studying neurodevelopment and neuroinflammation. Einstein (Sao Paulo). 2026 Mar 2;24:eAO1716. doi: 10.31744/einstein_journal/2026AO1716. eCollection 2026.

14. Kim GJ, Malaquias AC, Bertola DR, Rezende RC, Cellin LP, Pires LVL, Santillan-Vasconez AM, Lerario AM, Scalco RDC, Jorge AAL. Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome. Am J Med Genet A. 2026 Mar;200(3):661-672. doi: 10.1002/ajmg.a.64291. Epub 2025 Oct 25.PMID: 41137536

15. Kobachuk LDG, Moraes VMS, Wang JYT, Toledo VHC, Bueno MRP, Duarte YAO, Zatz M, Naslavsky MS, Castelli EC, Mendes-Junior CT. Comparative evaluation of an original microhaplotype panel and its expanded version for human identification and ancestry inference in Brazilian and admixed American populations. Forensic Sci Int Genet. 2026 Apr;83:103446. doi: 10.1016/j.fsigen.2026.103446. Epub 2026 Feb 10.

16. Leite JA, Bos NN, Luísa Menezes-Silva, da Silva EM, Leandro GS , de Goes GCM ,da Silva P, Oliveira S, Santos ESA, Ranfley H, Palagi I, Andrade-Silva M, Ferreira CP, Nery Neto JAO, Yariwake VY, Cipelli M, Leocata B, Gonçalves T, da Silveira AG, Baroni S, Weiner HL, Hofmann TG, Scheu S, Neves BJ, Souza-Pinto NC, Colli LM, Waisman A, Muxel SM , Menck CFM, Câmara NOS. Th17 cells require the DNA repair sensor xeroderma pigmentosum complementation Group C to control oxidative DNA damage in a murine model. Nat Commun. 2026 Apr 1;17(1):3157. doi: 10.1038/s41467-026-69914-y.

17. Ma HL, Garcia LSA, Ishiba R, Dametto LC, da Silva Moraes KA, Oliveira Ferreira R, Okamoto OK, Zatz M. Modeling glioblastoma in 3D hydrogels enables investigation of Zika virus targeting and immune modulation in oncolytic virotherapy. Biomater Adv. 2026 Feb;179:214492. doi: 10.1016/j.bioadv.2025.214492. Epub 2025 Sep 11.PMID: 40957303

18. Nascimento-Vidoti CG, Fabbri-Scallet H, Guaragna MS, de Wallau MB, de Souza VS, da Costa SS, Krepischi ACV, Mazzeu JF, Carvalho CMB, Maciel-Guerra AT, Guerra-Júnior G, Vieira TP. Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development. Biol Sex Differ. 2026 Feb 12;17(1):51. doi: 10.1186/s13293-025-00822-4.

19. Natividad Avila M, Jung S, Satterstrom FK, Fu JM, Levy T, Sloofman LG, Klei L, Pichardo T, Marquez D, Stevens CR, Cusick CM, Ames JL, Campos GS, Cerros H, Chaskel R, Costa CIS, Cuccaro ML, Lopez ADP, Fernandez M, Ferro E, Galeano L, Girardi ACDES, Griswold AJ, Hernandez LC, Lourenço N, Ludena Y, Núñez-Ríos D, Oyama R, Peña KP, Pessah I, Schmidt R, Sweeney HM, Tolentino L, Wang JYT, Albores-Gallo L, Croen LA, Cruz-Fuentes CS, Hertz-Picciotto I, Kolevzon A, Lattig MC, Mayo L, Passos-Bueno MR, Pericak-Vance MA, Siper PM, Tassone F, Trelles MP; GALA Consortium; Autism Sequencing Consortium (ASC); Talkowski ME, Daly MJ, Mahjani B, De Rubeis S, Cook EH, Roeder K, Betancur C, Devlin B, Buxbaum JD. Deleterious coding variation associated with autism is shared across ancestries. Nat Med. 2026 Apr;32(4):1519-1529. doi: 10.1038/s41591-026-04228-6. Epub 2026 Mar 30.

20. Pietrobon AJ, De Mendonça Oliveira L, Guilherme JPLF, De Toledo VHC, De Lima VA, Da Silva MVR, Da Silva SR, Dell'aquila LP, Razuk-Filho Á, Batista-Júnior PB, Sato MN, Zatz M, De Castro MV. Distinct post-infectious TLR2 immune remodeling in COVID-19-recovered centenarians. Mech Ageing Dev. 2026 Aug;232:112214. doi: 10.1016/j.mad.2026.112214. Epub 2026 Jun 17.PMID: 42309258 Free article.

21. Rosa E Silva I, do Prado PFV, Benevenutti FZ, de Oliveira RR, Passos AR, Canateli C, Messias IG, Trindade DM, Bortot LO, Guerra JVS, Hancio T, Sforça ML, Nascimento AFZ, Mercaldi GF, Pereira JGC, Fonseca MC, de Oliveira PSL, de Carvalho M, Smetana JHC, Krepischi ACV, Franchini KG, de Oliveira JF. DDX3X is a Cl--sensitive RNA helicase. Sci Signal. 2026 Mar 24;19(930):eadv4376. doi: 10.1126/scisignal.adv4376. Epub 2026 Mar 24.

22. Rots D, de Oliveira BC, Carvalho LML, Zhao X, Sadikovic B, Sim T, Rigobello R, Tedder M, Donoghue S, Maripuri DP, Hnizda A, Barr E, Fletcher R, Noskova L, Li D, Kleefstra T, Zackai EH, Barrero MJ, Krepischi ACV, Strong A. A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report. Front Genet. 2026 Jun 26;17:1824138. doi: 10.3389/fgene.2026.1824138. eCollection 2026.PMID: 42434347 Free PMC article.

23. Sertié AL, Josino R, Goll VR, Nunes Goussain Filippo AL, Campos GDS, do Rego F, Siqueira ES, Farias de Alcântara N, Zachi EC, Passos-Bueno MR. Catatonia and regression in an autism spectrum disorder patient harbouring a BRSK2 frameshift mutation. J Med Genet. 2026 Mar 20;63(4):269-274. doi: 10.1136/jmg-2025-111102.PMID: 41423339

24. Varella-Branco E, Shephard E, Toledo VHC, Ramos IC, Lacerda ECM, Carvalho LLM, Fiuza MA, Paschalidis M, Costa CIS, Girardi ACS, Krepischi ACV, Casella EB, Polanczyk G, Griesi-Oliveira K, Papes F, Alvizi L, Kobayashi GS, Dos Santos E Passos Bueno MR. "SHANK3 deficiency alters early progenitor dynamics and reveals shared pathways with neurodegeneration". Mol Psychiatry. 2026 Jun;31(6):3033-3048. doi: 10.1038/s41380-025-03433-y. Epub 2026 Jan 31.

25. Watts LM, Chang MSM, Lewis-Orr E, Walton IS, Leinhos L, Tooze RS, Pei Y, Calpena E, Vedovato-Dos-Santos JH, Steel D, Reid KM, Kurian MA, Mohammad SS, Cantagrel V, Siquier K, Boddaert N, Rio M, Blyth M, Kraus A, Al Mutairi F, Holder SE, Clowes VE, Cobben JM, Timberlake AT, Elias ER, Stewart H, Johnson D, Cohen JS, Barañano KW, Ceulemans S, Jones MC, Ortega Rico RI, Haug MG, Berland S, Bombei HM, Paulson A, Sidhu A, Gooch CF, da Rocha KM, Passos Bueno MR, Ţopa A, Muslimovic AZ, Maltese G, Tan TY, McCann E, Lord H, Chin HL, Lin J, Li-Meng Goh D, Keren B, Charles P, Delchev T, Avdjieva-Tzavella D, Alawbathani S, Almeida L, Kdissa A, Al-Ali R, Bertoli-Avella AM, Johnson D, Wilkie AOM, Arkell RM, Shears DJ, Twigg SRF. Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis. Genet Med. 2026 Jun;28(6):102585. doi: 10.1016/j.gim.2026.102585. Epub 2026 Apr 22.